Curriculum Vitae Prof. Giacomo Pietro Comi Ottobre 2014

Curriculum Vitae
Prof. Giacomo Pietro Comi
Settore scientifico-disciplinare:
MED/26 –Neurologia
Settore concorsuale:
06/D6- Neurologia
Ottobre 2014
CURRICULUM VITAE
Nome e cognome:
Nascita:
Cittadinanza:
Residenza:
Giacomo Pietro Comi
7/11/58 a Bergamo
Italiana
Viale Ercole Marelli 132
20099 Sesto S.Giovanni, Milano
Tel.: 02/2424287
Stato civile: coniugato
Indirizzo del luogo di lavoro:
Dipartimento di Fisiopatologia Medica e Chirugica e dei Trapianti
Sezione di Neuroscienze
Universita' degli Studi di Milano
Padiglione Monteggia
Divisione di Neurologia
IRCCS Fondazione Ca’ Granda Ospedale Maggiore Policlinico
Via Francesco Sforza 35,
20122 Milano
Tel: 02/55033817
FAX: 02/55033800
E-mail: [email protected]
FORMAZIONE
Diplomato nell'anno 1979 presso il Liceo Ginnasio Classico Statale G. Zucchi di Monza, con
punteggio finale di 60 e lode.
Allievo interno presso l'Istituto di Clinica Medica dell'Universita' degli Studi di Milano, diretto dal
Prof. Alberto Zanchetti nell'anno accademico 1983-84.
Allievo interno presso l'Istituto di Clinica Neurologica dell'Universita' degli Studi di Milano, diretto
dal Prof. Guglielmo Scarlato, nell'annno accademico 1984-1985.
Laureato in Medicina e Chirurgia il 1/4/85 a pieni voti (110 e Lode), presso l'Universita' degli Studi
di Milano, con una tesi sperimentale dal titolo "Taratura del test di Poppelreuter", relatore Prof. Edoardo
Bisiach.
Ha conseguito il diploma di Specialita' in Neurologia, nel novembre '89, con una Tesi dal titolo "6[18F] Fluoro-L-Dopa in scimmie rhesus: profilo metabolico ed effetti del trattamento con OR-462 e
carbidopa", relatore Prof. Guglielmo Scarlato.
ATTIVITA' SCIENTIFICA
Dal 1985 il Dott. Comi ha svolto attivita' di ricerca nell'ambito delle encefalomiopatie mitocondriali
presso l'Istituto di Clinica Neurologica, Universita' degli Studi di Milano.
Nell'anno accademico 1986-'87 ha ottenuto una borsa di studio presso l'Universita' degli Studi di
Milano, avendo come principale terreno di ricerca lo studio del metabolismo cerebrale in ratti senescenti
e microencefalici.
Dal settembre 1987 al settembre 1989 e' stato Visiting Fellow presso la Neuroimaging Section del
National Institute of Neurological and Communicative Disorders and Stroke (NINCDS), National
Institutes of Health (NIH), Bethesda, Maryland, U.S.A., diretta dal Dott. Giovanni Di Chiro, dove ha
collaborato, nell'ambito del programma di Positron Emission Tomography (PET), a protocolli
sperimentali riguardanti lo studio in vivo delle vie catecolaminergiche nel sistema nervoso centrale
umano e dei primati. Le due principali linee di ricerca in cui e' stato coinvolto riguardano l'imaging del
sistema catecolaminergico tramite 6-[18F] Fluoro-L-Dopa in primati MPTP-lesi ed in pazienti affetti da
Morbo di Parkinson, con particolare interesse alla ricerca di nuove forme di terapia tramite trapianti
autologhi ed eterologhi. Una seconda linea di ricerca era relativa allo sviluppo ed applicazione di nuovi
traccianti radioattivi positroni emittenti, per la determinazione in vivo dei recettori dopaminergici tramite
PET.
Dall'ottobre '89 ha lavorato presso l'Istituto di Clinica Neurologica dell'Universita' di Milano. I
principali settori di interesse riguardano gli aspetti biochimici e genetici delle miopatie metaboliche, delle
encefalomiopatie mitocondriali e delle distrofie muscolari.
Nel periodo 1 maggio 1990- 30 aprile 1991 ha ricevuto una Borsa di Ricerca dell'Ospedale Maggiore
Policlinico, R.C. 1987, Tema n. 86 dal titolo "Analisi del DNA mitocondriale, correlata alle alterazioni
biochimiche nelle miopatie dismetaboliche".
Nel periodo 1 gennaio 1992- 31 dicembre 1992 ha ricevuto una Borsa di Ricerca dell'Ospedale
Maggiore Policlinico, R..C: 1989, Tema n. 83 dal titolo "Analisi del DNA mitocondriale, correlata alle
alterazioni biochimiche nelle miopatie dismetaboliche".
Tale Borsa di Ricerca è stata rinnovata nel periodo 1/1/93 al 31/12/93.
Nel periodo 1 aprile '94- 31 marzo 1995 e' stato Borsista dell'Ospedale Maggiore presso l'Istituto di
Clinica Neurologica, R.C. 1991, Tema n. 121 dal titolo: Studio delle attività enzimatiche della catena
respiratoria nelle malattie degenerative neurologiche".
Dal 1 luglio 1995 e' ricercatore universitario presso l'Istituto di Clinica Neurologica dell'Universita'
degli Studi di Milano.
Dal 1 luglio 1998 ricercatore universitario confermato presso l'Istituto di Clinica Neurologica
dell'Universita' degli Studi di Milano.
Riconosciuto idoneo al ruolo di Professore Associato per il settore scientifico-disciplinare F11B,
tramite concorso pubblico di valutazione comparativa presso l'Università degli Studi di Milano, bandito il
14/04/2000 e completato con certificazione della regolarità degli atti il 30/01/2001.
Dal 1/10/2002 ricopre il ruolo di Professore Associato presso il Dipartimento di Scienze
Neurologiche dell’Università degli Studi di Milano.
Riconosciuto idoneo al ruolo di Professore Ordinario per il settore scientifico-disciplinare 06/D6
Febbraio 2014
I prinicipali temi di ricerca a cui il Prof. Comi ha dedicato interesse nel corso della sua carriera
scientifica sono stati costituti da: (i) neuroimaging sperimentale e clinico, (ii) genetica delle patologie
muscolari, con particolare attenzione alle malattie neurodegenerative e neuromuscolari, in particolare
mitocondriopatie, distrofie muscolari, miopatie metaboliche e malattie del motoneurone. (iii) staminalità
neuronale come modello di malattia ed approccio terapeutico sperimentale (iv) biogenesi mitocondriale,
senescenza e patologie degenerative del sistema nervoso centrale; (v) terapia genica delle malattie
neuromuscolari ad eziologia genetica..
Principali tematiche di ricerca:
1) Neuroimaging clinico:
- programma di Positron Emission Tomography (PET), a protocolli sperimentali riguardanti lo studio in
vivo delle vie catecolaminergiche nel sistema nervoso centrale umano e dei primati. Le due principali
linee di ricerca in cui e' stato coinvolto riguardano l'imaging del sistema catecolaminergico tramite 6[18F] Fluoro-L-Dopa in primati MPTP-lesi ed in pazienti affetti da Morbo di Parkinson, con particolare
interesse alla ricerca di nuove forme di terapia tramite trapianti autologhi ed eterologhi. Una seconda
linea di ricerca era relativa allo sviluppo ed applicazione di nuovi traccianti radioattivi positroni emittenti,
per la determinazione in vivo dei recettori dopaminergici tramite PET.
-Studio di RMN muscolare nelle Miopatie e Distrofie Muscolari
2) Basi molecolari delle encefalomiopatie mitocondriali e delle malattie metoboliche con interessamento del
sistema nervoso centrale e/o periferico e dell'apparato neuromuscolare
-
Caratterizzazione clinica e patologica di casi familiari di malattie mitocondriali
Analisi genica high throughput per l'identifcazione di nuovi geni responsabili di malattie mitocondriali
Studi funzionali in modelli in vitro e in vivo di mutazioni in proteine mitocondriali
Studio molecolare di del meccanismo di trasporto dello spazio intermembrana mitocondriale
Studio delle miopatie metaboliche attraverso un'indagine clinico-biochimica e poi molecolare, con
caratterizzazione dei difetti della via glicogeno e glicolitica (deficit dell'enzima deramificante, di maltasi
acida, di miofosforilasi di fosfogliceratomutasi, di -enolasi) e lipolitica (deficit della beta-ossidazione
mitocondriale, di carnitina e dell'enzima carnitina palmitoiltranferasi
3)
Analisi bio-molecolari dell'eziopatogenesi delle distrofie muscolari e terapie sperimentali
-
Studio dell'eziologia molecolare, della patogenesi e delle correlazioni genotipo-fenotipo delle Distrofie
Muscolari dei Cingoli (Limb Girdle Muscular Dystrophies, LGMD)
Caratterizzazione clinico genetica delle distrofinopatie e delle Distrofie Muscolari Congenite
Protocolli terapeutici farmacologici sperimentali nelle distrofinopatie (PTC124, oligonucleotidi antisenso,
inibitori delle istone-deacetilasi)
4)
Analisi clinico-molecolare delle Canalopatie muscolari
5)
Meccanismi molecolari delle malattie neurodegenerative
-
Studio eziopatogenetico molecolare e correlazioni genotipo fenotipo nella Malattia di Alzheimer, Demenza
Fronto-temporale e Malattia di Parkinson
6)
Meccanismi molecolari delle malattie del motoneurone
-
Analisi molecolare e correlazioni genotipo/fenotipo in pazienti affetti da forme sporadiche e familiari di
malattie del motoneurone
7)
-
Studio di strategie terapeutiche cellulo-mediate nelle malattie del motoneurone
Strategie terapeutiche basate sul trapianto di cellule staminali per la Sclerosi Laterale Amiotrofica
Trapianto di cellule staminali neuronali come strategia terapeutica per l'Atrofia Muscolare Spinale (SMA)
Sviluppo di approcci cellulo-mediati come terapia per l'Atrofia Muscolare Spinale con Distress
Respiratorio di tipo 1 (SMARD1)
Definizione di protocolli pre-clinici di trapianto cellulare in vivo
Identificazione dei meccanismi molecolari alla base dell'effetto terapeutico di cellule staminali neuronali in
modelli di malattie del Motoneurone
8)
Meccanismi molecolari del mantenimento della staminalità e del differenziamento in senso neuronale e
moto neuronale
-
Generazione e analisi delle caratteristiche biologiche di diverse popolazioni di cellule staminali tra cui
cellule staminali somatiche riprogrammate "induced pluripotent stem cells" (iPS)
Isolamento di popolazioni di cellule staminali neuronali primitive basato sull'uso di markers di superficie e
di proprietà fisiche e biochimiche
Studio del differenziamento di cellule staminali in senso motoneuronale in termini di definizione di
protocolli in vitro e di studio molecolare degli eventi differenziativi
Identificazione di motivi genici motoneurono-specifici mediante analisi comparativa genomica e screening
in vitro
9)
Studio di strategie terapeutiche di terapia genica nelle malattie neurodegenerative e neuromuscolari
-
Sviluppo di un approccio combinato di molecole farmacologiche e di oligonucleotidi antisenso come
potenziale strategia terapeutica per l'Atrofia Muscolare Spinale
Sviluppo di approcci molecolari come terapia per l'Atrofia Muscolare Spinale con Distress Respiratorio di
tipo I
-
Collaborazioni nazionali ed internazionali
Il Prof. Giacomo P. Comi collabora ai seguenti progetti:
1. Prof. Y.C. Chen. Department of Medical Genetics, Duke University North Carolina USA. "Molecular
basis of Glycogenosis type III"
2. Dr. M Zeviani. Istituto Neurologico Nazionali C. Besta. Autosomally inherited mitochondrial disorders
3. “Studio di nuovi approcci di terapia genica per l’Atrofia Muscolare Spinale con Distress Respiratorio
(SMARD1)”, Brian K Kaspar, Ph.D, Professore Associato, The Research Institute at Nationwide
Children’s Hospital/ The Ohio State University, Center for Gene Therapy, Columbus, Ohio, USA
4. Studio dei meccanismi molecolari non-cell autonomous nella SLA, Motor Neuron Center, Columbia
Università
5. “Basi Molecolari della Sclerosi Laterale Amiotrofica” SLAGEN consortium, Prof. Vincenzo Silani,
Università degli Studi di Milano, IRCCS Istituto Auxologico Italiano, Milano
6. “Studi elettrofisiologici di motoneuroni derivati da cellule staminali in vitro e in vivo”, Prof. Luca
Imeri, Dipartimento di Fisiologia Umana, Università degli Studi di Milano, Milano
7. “Basi molecolari genomica di popolazione”, Dr. M. Siorni e Dr Uberto Pozzoli, IRCCS E. Medea
Bosisio, Parini, Italy
Responsabilità in progetti scientifici
Responsabilità scientifica per progetti di ricerca internazionali e nazionali, ammessi al
finanziamento sulla base di bandi competitivi che prevedano la revisione tra pari
Progetto
PRIN 2001: BIOPATOLOGIA DELLA FIBRA MUSCOLARE SCHELETRICA
Durata Ruolo Ricoperto
24
Responsabile
Unità
PRIN 2003: IperCkemia idiopatica familiare: studio genetico, ultrastrutturale
e di espressione genica. Relazione con la suscettibilità all'ipertermia maligna
e basi fisiopatologiche
24
Responsabile
Unità
PRIN 2006: Un approccio integrato allo studio della eziopatogenesi delle
mitocondriopatie
24
Coordinatore
Progetto
FIRB Progetti Negoziali 2001: Animali geneticamente modificati per lo studio
di patologie neurodegenerative
36
Responsabile
Unità
IRCCS Ospedale Maggiore Policlinico 1997: Progetto di ricerca corrente
"Caratterizzazione genetico-clinica di encefalomiopatie mitocondriali negative
per mutazioni comuni del genoma mitocondriale".
12
Responsabile
Progetto
. IRCCS Ospedale Maggiore Policlinico 1998: "Costruzione di un vettore
retrovirale ad espressione muscolo specifica da utilizzare nell'ambito della
terapia genica dei disordini muscolari ereditari"
24
Responsabile
Progetto
Telethon Grants 1090 (1999-2000), dal titolo: Molecular basis of
glycogenosis type III.
24
Responsabile
Progetto
IRCCS E. Medea 2000: Progetto di ricerca "Risposta alla esposizione a dosi
variabili di aminoglicoside di colture muscolari di pazienti DMD non deleti".
24
Responsabile
Progetto
Ricerca Finalizzata 2000, Ministero della Salute "Cognitive and psychic
24
Responsabile
functions in Steinert Myotonic Dystrophy: correlations with
genotype and neuroimaging"
Ricerca Finalizzata 2000 Markers Biologici Periferici nei
meccanismi patogenetici della malattia di Alzheimer
Unità
24
Responsabile di
Unità
2001-03: Progetto di Ricerca Finalizzata Ministero della Salute Unit
"'Isolation, expansion and characterization of stem cell for transplantation
and tissue repair; (STEM 2001)"
36
Responsabile
Unità
2002 Progetto Strategico M.I.U.R. Legge 449/97 dal titolo Basi Molecolari e
cellulari delle Malattie (Molecular basis of the diseases) " Sottoprogetto
"Eziopatogenesi molecolare delle malattie mitocondriali in un'ampia coorte di
pazienti formata da casi con mutazioni note del DNA mitocondriale e casi
senza mutazioni comuni" (Molecular etiopathogenesis of mitochondrial
disorders in a large series of patients with recurrent and rare mutations of
mitochondrial DNA)
24
Responsabile
Progetto
Ricerca Finalizzata 2002, Ministero della Salute, "Mitochondrial disorders:
diagnostic screening of disease gene end identification of modulator genes".
24
Responsabile
Unità
IRCCS Ospedale Maggiore di Milano: Progetto a concorso 2002 : Modulazione
della neuroneogenesi originata da cellule staminali emopoietiche e
valutazione del relativo significato terapeutico nel modello murino della
Sclerosi Laterale Amiotrofica"
24
Responsabile
Progetto
Progetto di Ricerca Finalizzata 2004, Ministero della Salute", entitled Limb
Girdle Muscular Dystrophies: clinico-genetic correlations, pathogenesis and
prognostic factors"
24
Coordinatore
nazionale
Progetto di Ricerca Finalizzata 2004, Ministero della Salute, entitled "Miosite
a corpi inclusi: network tra aging muscolare, stress cellulare, risposta
immunitaria innata e autoimmunità".
24
Responsabile
Unità
Progetto di "Ricerca Finalizzata 2004 Ministero della Salute", entitled "Studio
di protocolli di terapia cellulo-mediata nelle patologie neurodegenerative e
nelle distrofie muscolari"
24
Coordinatore
nazionale
"Progetto a Concorso Anno 2004, Ospedale Maggiore di Milano, entitled:
Trapianto di cellule staminali di derivazione emopoietica come strategia di
rigenerazione neuronale in topi nmd, modello animale di Amiotrofia Spinale".
24
Responsabile
Progetto
Progetto di Ricerca Finalizzata" 2004, Ministero della Salute, entitled
"hereditary optic neuropathies with mitochondrial pathogenesis as a model of
selective neurodegeneration"
24
Responsabile
Unità
"Ricerca Finalizzata 2004 Ministero della Salute, entitled "Study of protocols
of cell-mediated therapy in the neurodegenerative disorders and muscular
dystrophies"
36
Coordinatore
nazionale
Progetto a Concorso Fondazione IRCCS Ospedale Maggiore Policlinico,
Mangiagalli e Regina Elena, dal titolo: Caratterizzazione delle vie
patogeneticamente rilevanti nelle encefalo miopatie"
24
Responsabile
Progetto
Progetto "Istituto Superiore di Sanità 2006, Prof. G.P. Comi "Validazione
preclinica dell'utilizzo di cellule staminali mesenchimali quale possibile terapia
cellulo-mediata della SLA"
24
Responsabile
Unità
Telethon grant 2006: GGP06043, "Development of cellular and molecular
therapeutic approaches for Spinal Muscular Atrophy with Respiratory Distress
(SMARD1).
24
Responsabile
Progetto
Association Française contre les Myopathies, CL/NM 2006.0783/11750,
24
Responsabile
Pag. 77 di 81
Development of neural stem cell transplantation as a potential therapy of
Spinal Muscular Atrophy;
Progetto
Ministero della salute Ex-Articolo 56, 2006 Motoneuron disease: genomics
and proteomics to investigate diagnostic biological markers in cells and
human fluids with translation to murine models"
24
Responsabile
Unità
Ministero della Salute, Progetto ex art 56 legge 289/2002. "The technique of
the opto-electronic pletysmography in the evaluation of the respiratory
kinematic in the different stages of the Duchenne muscular dystrophy and its
relation to different techniques of non invasive ventilation".
24
Responsabile
Unità
Ricerca Finalizzata 2002 Sviluppo di modelli in vitro e in vivo di paraparesi
spastica ereditaria
24
Responsabile di
Unità
Ministero della Salute, Ricerca Finalizzata 2007 "The motor neuron disease:
molecular and cellular pathways in neuronal and muscular degeneration in
Amyotrophic Lateral Sclerosis"
24
Responsabile
Unità
Fondazione Cariplo 2007-2008: Development of a cell-mediated therapy for
Amyotrophic Lateral Sclerosis using Multipotent Adult Progenitor
Cells(MAPCs).
24
Responsabile
Progetto
Ministero della Salute, Ricerca Finalizzata, 2007, "Juvenile and perinatal
stroke: population genetics analysis for the identification of pathogenic alleles
and predisposing factors"
24
Responsabile
Unità
Telethon-UILDM 2008-10 "Outcome measures in Duchenne Muscular
Dystrophy".
24
Responsabile
Unità
Telethon-UILDM 2009- "Clinical, morphological and molecular study of Italian
patients with congenital myopathy"
24
Responsabile
Unità
SMA Europe/FSMA grant 2008-2010, " Development of a stem cell approach
for treating Spinal Muscular Atrophy"
24
Responsabile
Progetto
Progetto a Concorso Ospedale Maggiore Policlinico 2006-2007 e 2008-2009
48
Responsabile
Progetto
Progetto di Ricerca Finalizzata 2007 Ministero della Salute, "Mitochondrial
Disorders: from medical genetics to molecular mechanisms, toward the
developmenof therapeutic strategies"
24
Responsabile
Progetto
Ricerca Finalizzata 2006 Malattie del primo motoneurone integrazione di
approccio genetico molecolare clinico strumentale
24
Responsabile di
Unità
2011 Progetto UILDM-Telethon Clinical and laboratory network for LGMD
diagnosis, in view of a national registry
24
Responsabile
Progetto
2012 Progetto UILDM-Telethon "Sviluppo di un data base sulle distrofie
muscolari congenite nel contesto di un network collaborativo nazionale per
ricostruire elementi di storia naturale di queste malattie
24
Responsabile
Unità
2010-13 Telethon-UILDM "Constructing a database for a nation-wide Italian
collaborative network of mitochondrial diseases
24
Responsabile
Progetto
2010-2014 Progetto " iPSALS" iPS derived neural stem cells for Amyotrophic
Lateral Sclerosis" Agenzia di Ricerca per la Sclerosi Laterale Amiotrofica
36
Responsabile
Progetto
Telethon 2010-2104: "Development of stem cell therapy for SMARD1"
24
Responsabile
Progetto
Pag. 80 di 81
Ricerca Finalizzata 2009 From BioEngineering new tools for identification of
early markers of respiratory and cardiac impairment in Duchenne Muscular
Dystrophy
36
Responsabile di
Unità
Ricerca Finalizzata 2007 Genome wide association and copy number variation
analysis of sporadic amyotrophic lateral sclerosis (GW-SLA)
24
Responsabile di
Unità
Pag. 81 di 81
Pubblicazioni
Nel corso di questi anni e' stato autore di più di 893 pubblicazioni di interesse neurologico,
comprensive di :
-
>321 lavori originali pubblicari su riviste internazionali e recensite dal Current Contents,
>362 abstracts di comunicazioni a congressi neurologici internazionali,
>197 abstracts di comunicazioni a congressi neurologici nazionali,
17 capitoli di libri.
ESPERIENZA DIDATTICA
Il Prof. Giacomo Pietro Comi ha svolto attività tutoriale relativa al Corso di Neurologia per gli
studenti della Facoltà di Medicina e Chirurgia dell'Universita' degli Studi di Milano, negli anni
accademici 1992-93, 1993-94, 1994-95. In questi anni di attività didattica il Prof Comi è stato correlatore
di tesi di Laurea in Medicina e Chirurgia, tesi di specialità in Neurologia, tesi di Laurea in Scienze
Biologiche e per il Diploma universitario di tecnico di laboratorio biomedico.
A partire dall’anno accademico 1994-95 ha svolto attività didattica seminariale presso la Scuola di
Specializzazione di Neurologia dell'Università degli Studi di Milano.
Ha inoltre tenuto, in qualità di docente, i corsi di Neurologia negli anni 1990-91 e 1992-93, 1995-96
e di Anatomo-fisiologia del sistema nervoso negli anni 1991-92, 1993-94, presso la Scuola Regionale
Terapisti della Riabilitazione, Istituto Scientifico E. Medea, Bosisio Parini, Como.
Dall'anno accademico 1995/96 a oggi, fa parte dell'elenco ufficiale dei docenti della Scuola di
Specializzazione in Neurologia della Facoltà di Medicina e Chirurgia dell'Università degli Studi di
Milano, nell'ambito della quale tiene lezioni di Neurologia Pediatrica per il IV anno di corso.
Dall'anno 1997/98 ad 2000/2001, ha insegnato elementi di neurologia nell'ambito del Corso Integrato
di Tecniche Infermieristiche applicate alla Medicina Clinica Specialistica, presso la Scuola Infermieri
dell'Ospedale Maggiore Policlinico di Milano.
Dall'anno accademico 1997-98 a oggi, è responsabile del Corso di Neurologia al II anno del Corso di
Diploma Universitario per Ortottisti e Assistenti di Oftalmologia, presso l'Istituto di Clinica Oculistica
dell'Università degli Studi di Milano.
Dall'Aprile 2000 è membro del Collegio dei Docenti del Dottorato di Ricerca in Medicina
Molecolare.
Dal 2002 a oggi, svolge attività didattica nel Corso di Laurea Triennale in Biotecnologie Mediche
(Patologia Medica- Neurologia), Facoltà di Medicina e Chirurgia, Università degli Studi di Milano (20022014) e nel Corso di Laurea Triennale in Tecniche di Laboratorio Biomedico (Fisiopatologia MedicaNeurologia), Facoltà di Medicina e Chirurgia, Università degli Studi di Milano (2002-2004)
Dal 2006 al 2010, è stato titolare del Corso di Laurea in Malattie del Sistema Nervoso per la Laurea
Magistrale in Medicina e Chirurgia per il Polo Centrale della facoltà di Medicina e Chirurgia.
Dal 2011 a oggi, docente nel Corso di Laurea in Malattie del Sistema Nervoso per la Laurea Magistrale in
Medicina e Chirurgia per il Polo Centrale della facoltà di Medicina e Chirurgia
Pag. 82 di 81
ATTIVITA' CLINICO-ASSISTENZIALE
Abilitato all'esercizio della Professione di Medico Chirugo in data 29/5/1985
Iscritto all'Albo Professionale dell'Ordine dei Medici di Milano il 26/6/1985
Ha frequentato dal 1985 al 1987, e dal 1990 al 1997 come medico interno l'Istituto di Clinica Neurologica
di Milano, svolgendo attività assistenziali di sala. Ha inoltre svolto durante questi anni attività clinica
ambulatoriale presso l'ambulatorio del "Centro Dino Ferrari per le patologie neuromuscolari e
neurodegenerative".
Nel 1992-1993 ha inoltre svolto attività di consulente specialista neurologo presso l'Ospedale Militare di
Milano.
Dal 1993 al 1995 ha prestato servizio in qualità di medico Specialista nella branca di neurologia presso le
USSL di Sesto S. Giovanni e Cologno Monzese, e Corsico.
Nell'anno 1994, ha svolto attività clinico-assistenziali in qualità di consulente in convenzione presso
l'Istituto Scientifico E. Medea.
Dal 1 marzo 1997 svolge funzioni assistenziali presso la Divisione di Neurologia dell'Ospedale Maggiore
Policlinico di Milano (recentemente ridenominato Fondazione I.R.C.C.S Ca' Granda, Ospedale Maggiore
Policlinico).
Il Prof. Comi svolge attività di reparto dal 1997, dal 2007 è Capo Reparto Degenza, responsabile di una
sezione del reparto di Neurologia, dotato di 9 letto di degenza ordinaria. In tale veste svolge turni di
guardia interna ed esterna ed ambulatorio specialistico neurologico generale.
E' inoltre responsabile dell'attività ambulatoriale e di day Hospital per la Sclerosi Laterale Amiotrofica e
le neuropatie
Inoltre il Prof. Comi continua a svolgere l'attività specialistica nell'ambulatorio del "Centro Dino Ferrari
per lo studio e la terapia delle neuromuscolari e neurodegenerative" dedicato principalmente alle malattie
muscolari.
Inoltre dal 2001 il Prof. Comi dirige l'attività di diagnostica biochimica e biomolecolare del Laboratorio
Radioisotopi di Biochimica e Genetica del Dipartimento di Scienze Neurologiche. In particolare sulla
base della attività di ricerca applicata, ha introdotto e validato tests diagnostici per un ampio spettro di
malattie neuromuscolari e neurodegenerative. Le indagini di biologia molecolare a fini diagnostici,
eseguite presso
il Laboratorio, sono le seguenti
- Distrofia muscolare di Duchenne/Becker Gene della distrofina, delezioni e coding sequence.
- Distrofia muscolare dei Cingoli (LGMD1A): gene della Miotilina
- Distrofia Muscolare dei Cingoli tipo 1B: LGMD1B; LAMIN A/C; gene LMNA
- Distrofia Muscolare dei Cingoli tipo 1C: gene della Caveolina 3
- Distrofia Muscolare dei Cingoli tipo 2A: gene della Calpaina 3
- Distrofia Muscolare dei Cingoli tipo 2B. LGMD2B- Miopatia di MIYOSHI, MM; disferlina, gene
DYSF.
- Distrofia Muscolare dei Cingoli (LGMD2C): gene del Sarcoglicano gamma (SGCG)
- Distrofia Muscolare dei Cingoli (LGMD2D): gene del Sarcoglicano (SGCA)
- Distrofia Muscolare dei Cingoli (LGMD2E): gene del Sarcoglicano beta (SGCB)
- Distrofia Muscolare dei Cingoli (LGMD2F): gene del Sarcoglicano delta (SGCD)
-- Distrofia Muscolare dei Cingoli tipo 2I: gene della Fukutin Related Protein
- Forma Familiare di Sclerosi Laterale Amiotrofica (SLA): Gene Cu-Zn Superoxide Dismutasi
(SOD1)
- Forma Familiare di Sclerosi Laterale Amiotrofica; Angiogenina ANG.
Pag. 83 di 81
- Forma Familiare di Sclerosi Laterale Amiotrofica, ALS8; VESICLE-ASSOCIATED MEMBRANE
PROTEIN-ASSOCIATED PROTEIN B, gene VAPB.
- Amiotrofia Spinale con Distress Respiratorio tipo 1 (SMARD1) Proteina 2 IMMUNOGLOBULIN
MU BINDING; gene IGHMBP2.
- Atrofia Muscolare Spinale distale tipo V. DSMAV: Glicil tRNA sintetasi: gene GARS.
- Forma autosomico-recessiva di Miopatia a Corpi Inclusi, IBM2. gene UDP-NACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE, GNE.
- Deficit di Carnitina Palmitoil-Trasferasi(CPT): Gene CPT2
- Deficit primario di Carnitina. Gene OCTN2
- Deficit di Enzima Deramificante (GSDIII): Gene AGL
- Deficit di Enzima Ramificante: Gene Branching
- Deficit di Maltasi Acida. Gene alfa,2-glucosidasi (GAA)
- Sindrome di Leigh con deficit di Citocromo c Ossidasi:Gene Surf-1
- Oftalmoplegia Estrinseca Progressiva con delezioni multiple del DNA mitocondriale, Autosomica
Dominante 1:Gene Adenina nucleotide traslocasi (ANT1)
- Oftalmoplegia Estrinseca Progressiva con delezioni multiple del DNA mitocondriale, Autosomica
Dominante 2:Gene Twinkle
- Oftalmoplegia Estrinseca Progressiva con delezioni multiple del DNA mitocondriale, Autosomica
Dominante 3 e Autosomica Recessiva: Gene Polimerasi gamma (POLG1)
-Oftalmoplegia Estrinseca Progressiva con delezioni multiple del DNA mitocondriale, Autosomica
Dominante 4:Gene Subunità accessoria della Polimerasi gamma( POLG 2)
- Sindrome da Deplezione del DNA mitocondriale: Desossiguanosina Chinasi(dGK)
- Sindrome da Deplezione del DNA mitocondriale: Timidina Chinasi 2 (TK2)
- Atrofia Ottica Autosomico Dominante: OPA1. Gene OPA1. 28PCR,
- Forma familiare di Malattia di Creutzfeldt-Jakob. Gene della proteina prionica, gene PRPN.
Miopatia a corpi inclusi con malattia di Paget e demenza frontotemporale; IBMPFD. VALOSINCONTAINING PROTEIN; VCP.
- PARK1: Forma familiare autosomica dominante di Morbo di Parkinson: Sinucleina alfa
- PARK2: Forma giovanile autosomica recessiva di Morbo di Parkinson: Parkina
- PARK7: Forma giovanile autosomica recessiva di Morbo di Parkinson: DJ1
- PARK8 Mutazione comune.
- Polineuropatia amiloidotica autosomica dominante Gene della transtiretina, TTR.
- Malattia di Charcot-Marie-Tooth (CMT) tipo 2A; CMT2A. Mitofusina2; gene MFN2.
- Malattia di Charcot-Marie-Tooth (CMT) tipo 2D; CMT2D. Glicil tRNA sintetasi gene GARS.
Malattia di Charcot-Marie-Tooth (CMT) tipo 2B1; CMT2B1. LAMIN A/C; gene LMNA.
- Malattia di Charcot-Marie-Tooth (CMT) tipo4A; CMT4A. GANGLIOSIDE-INDUCED
DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1.
- Malattia di Wilson WND. ATPasi, Cu(2+)-trasportatore, polipeptide beta; ATP7B.(25 PCR, 50 seq.)
- Gene Adenilato Kinasi (AK2)
- Analisi di sequenza dell'intero genoma mitocondriale
- Canalopatie: deficit canale del Calcio: gene CACNA1S, deficit canale del Potassio: gene KCNJ2
- Deficit enzima Enolasi: gene ENO3
- Deficit enzima Mioadenilato Deaminasi (MAD): gene AMPD1
- Analisi del DNA ed ibridazione con sonda molecolare (Southern blot)
- Distrofia Miotonica di Steinert (DM1): XL-PCR e Southern blotting
- DNA mitocondriale southern blot +digestione enzimatica
- Distrofia Miotonica di tipo II (DM2): XL-PCR e Southern blotting
Pag. 84 di 81
- Amiotrofia Spinale, AR, Cr. 5: Survival Motor Neuron gene(SMN1 e 2):Analisi di delezione esoni 7
e 8 I test biochimici
Enzimi della via glicogeno- e glicolitica: Enzimi mitocondriali:
Catena Respiratoria Mitocondriale Beta-ossidazione:
Altre attività enzimatiche:
Metaboliti plasmatici:Lattato basale Test di MunsatCarnitina totale e libera
Proteine muscolari (Western blotting):Distrofina (NH2, Rod domain, COOH), Caveolina 3, Disferlina,
Calpaina 3, Alfa-Sarcoglicano, Beta-Sarcoglicano, Gamma-Sarcoglicano, Delta-Sarcoglicano,
Telethonina, Desmina, Alfa-distroglicano
Pag. 85 di 81
Direzione di enti o istituti di ricerca di alta qualificazione internazionale
Ente
Dal
Al
"Centro Dino Ferrari per lo studio e la terapia delle malattieneuromuscolari e
neurodegenerative" , Vicedirettore
1/2002
07/2002
Centro Dino Ferrari per lo studio e la terapia delle malattieneuromuscolari e
neurodegenerative" , Direttore
07/2002 12/2002
Pag. 86 di 81
Partecipazione ad accademie aventi prestigio nel settore
Membro dell'Associazione Italiana di Neuropatologia 01/1999
Membro dell'Associazione Italiana di Miologia 01/1999
Membro della Society for Neuroscience (SfN)
01/2004
Partecipazione a comitati editoriali di riviste, collane editoriali, enciclopedie e
trattati di riconosciuto prestigio
Riviste
Reviewer per riviste internazionali quali: Brain - Neurology - Annals of
Neurology-Muscle and Nerve-Neurobiology of Disease-Journal of The Neurological
Sciences-European Journal of Human Genetics, Molecular Genetics, Stem Cell Research
1/1995
Membro dell’Editorial Board della rivista Journal of Neuromuscular Disorder
Pag. 87 di 81
Altri titoli
Dal 1 marzo 1997 svolge funzioni assistenziali presso la Divisione di
Neurologia dell'Ospedale Maggiore Policlinico di Milano (recentemente
ridenominato Fondazione I.R.C.C.S Ca' Granda, Ospedale Maggiore
Policlinico.
Il Prof. Comi svolge attività di reparto dal 1997, dal 2007 è Capo Reparto
Degenza, responsabile di una sezione del reparto di Neurologia, dotato di 9
letto di degenza ordinaria. In tale veste svolge turni di guardia interna ed
esterna ed ambulatorio specialistico neurologico generale.
E' inoltre responsabile dell'attività ambulatoriale e di day Hospital per la
Sclerosi Laterale Amiotrofica e le neuropatie. Inoltre il Prof. Comi continua a
svolgere l'attività specialistica nell'ambulatorio del "Centro Dino Ferrari per lo
studio e la terapia delle neuromuscolari e neurodegenerative" dedicato
principalmente alle malattie muscolari.
Attività di docenza dal 1992 nella Facoltà di Medicina e Chirurgia
dell'Università degli Studi di Milano (dettaglio attività descritto nel campo
"altre informazioni").
Dal 2001 il Prof. Comi dirige l'attività di diagnostica biochimica e
biomolecolare del Laboratorio Radioisotopi di Biochimica e Genetica del
Dipartimento di Scienze Neurologiche. In particolare sulla base della attività di
ricerca applicata, ha introdotto e validato tests diagnostici per un ampio spettro
di malattie neuromuscolari e neurodegenerative. Inoltre nel laboratorio è
eseguita ricerca di base e pre-clinica in merito allo studio dei meccanismi
eziopatogenetici molecolari delle malattie neurologiche e neurodegenerative e
allo sviluppo di nuove strategie terapeutiche molecolari e cellulomediate.
L'attività di ricerca è svolta anche in collaborazione con Centri di ricerca
internazionali in particolare con la Columbia University of New York, con la
Ohio State University, e l'Harvard Medical School. E' stato relatore e
moderatore in congressi nazionali ed internazionali.
Partecipazioni a Sperimentazioni farmacologiche
1990-1991: Investigator "Multicenter trial with Ubidecarenone: treatment of
mitochondrial myopathies" 2008-09 Principal Investigator. Phase 2b Study of
PTC124 in Duchenne/Becker Muscular Dystrophy
(DMD/BMD). Protocollo PTC124-GD-007-DMD
2009-2010 Principal Investigator. Phase 2b Study of PTC124 in
Duchenne/Becker Muscular Dystrophy (DMD/BMD). Protocollo PTC124-GD007e-DMD
Pag. 88 di 81
2010-2012 Principal Investigator. A randomized, double-blind, placebocontrolled clinical study to assess the efficacy and safety of GSK2402968 in
ambulant subjects with Duchenne muscular dystrophy. Protocollo
GSK2402968
2010-2012 Principal Investigator. "Phase II, multicenter, randomized, adaptive,
double-blind, placebo controlled study to assess safety and efficacy of
olesoxime TRO19622) in 3-25 year old Spinal Muscular Atrophy (SMA)
patients"Studio di fase II, multicentrico, randomizzato, adattivo, in doppio
cieco, controllato con placebo per valutare la sicurezza e l'efficacia di
olesoxime (TRO19622) in pazienti affetti da atrofia muscolare spinale (SMA)
tra i 3 e 25 anni" (Prot. Promotore N. TRO19622 CL E Q 1275-1).
2012-2014 Principal Investigator "Protocol No. PTC124-GD-019-DMD
entitled "An Open-Label Study for Previously Treated Ataluren (PTC124®)
Patients with Nonsense Mutation Dystrophinopathy".
2013-2014 "Studio in due parti per valutare la sicurezza e la tollerabilità, la
farmacocinetica, e gli effetti sull’istologia e i diversi paramentri clinici di
Givinostat in bambini deambulanti affetti da distrofia muscolare di Duchenne”,
secondo il Protocollo di studio n DSC/11/2357/43, relativa al farmaco
Givinostat”.
2013-2015 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial of
Tadalafil for Duchenne Muscular Dystrophy. H6D-MC-LVJJ
Pag. 89 di 81
Elenco Pubblicazioni
Prof. Giacomo Pietro Comi
Settore scientifico-disciplinare: MED/26-Neurologia
Anni 1987-2014
Pag. 90 di 81
Lavori originali su riviste recensite da "Current Contents" del Prof. Giacomo Pietro Comi:
In parentesi è riportato, ai fini comparativi, lo Scientific Journal Impact Factor da "Journal
of Citation Reports" riferito all'anno di pubblicazione o al valore dell'anno più prossimo.
Impact Factor Lavori Originali:
1.
Bresolin N., Bet L., Moggio M., Meola G., Comi G., Scarlato G.
Muscle G6PD deficiency
The Lancet, July 25, 212-213, 1987.
2.
Bresolin N., Bet L., Binda A., Moggio M., Comi G., Nador F., Ferrante C., Carenzi
A., Scarlato G.
Clinical and biochemical correlations in mitochondrial myopathies treated with
Coenzyme Q10.
Neurology, 38, 6, 892-899, 1988.
3.
Bresolin N., Bet L., Moggio M., Meola G., Fortunato F., Comi G., Adobbati L.,
Geremia L., Pittalis S., Scarlato G.
Muscle glucose-6-phosphate dehydrogenase deficiency.
Journal of Neurology, 236, 193-198, 1989.
4.
Doriguzzi C., Palmucci L., Mongini T., Bresolin N., Bet L.,
Comi G., Lala R.
Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome
c oxidase deficency.
Journal of Neurology, Neurosurgery and Psychiatry, 52, 122-125, 1989.
5.
Scarlato G., Bresolin N., Moroni I., Doriguzzi C., Castelli E., Comi G., Angelini C.,
Carenzi A.
Multicenter trial with Ubidecarenone: treatment of 44 patients with mitochondrial
myopathies.
Revue Neurologique, 6-7, 542-548, 1991.
6.
Bresolin N., Martinelli P., Barbiroli B., Zaniol P., Ausenda C., Montagna P.,
Gallanti A., Comi G.P., Scarlato G., Lugaresi E.
Muscle mitochondrial DNA deletion and 31P-MR spectroscopy alterations in a
migraine patient.
J Neurol Sci, 104, 182-189, 1991.
7.
Prelle A., L. Chianese, M. Moggio, Gallanti A., M. Sciacco, N. Checcarelli,
G. Comi, E. Scarpini, E. Bonilla, G. Scarlato.
Appearance and localization of dystrophin in normal human fetal muscle.
Int J Dev Neuroscience, 9, 6, 607-612, 1991.
8.
Ninfali P., Bresolin N., Baronciani L., Fortunato F., Comi G., Magnani M.,
Scarlato G.
Glucose-6-Phospate Dehydrogenase Lodi844C: a study of its expression in blood
cells and muscle.
Enzyme, 45, 180-187, 1991.
Pag. 91 di 81
9.
A. Prelle, M. Moggio, G.P. Comi, A.Gallanti, N. Checcarelli, N. Bresolin,
P. Ciscato, F. Fortunato, G. Scarlato.
Congenital myopathy associated with abnormal accumulation of desmin and
dystrophin.
Neuromuscular Disorders, 2 (3), 169-175, 1992.
10.
Bresolin N., Moroni I., Meola G., Comi G.P., Scarlato G.
The biochemistry of mitochondrial myopathies.
The Italian Journal of Neurological Sciences.Aprile 1992
vol 13 Suppl 3. pg.25-34.
11.
Meola G, Rotondo G, Velicogna M, Bresolin N., Comi G.P., Scarlato G.
Expression of respiratory chain deficiencies in human cell cultures.
The Italian Journal of Neurological Sciences. Aprile 1992
vol 13, Suppl 3, pg. 65-70
12.
Comi G.P., Bresolin N., Meola G., Moroni I., Gonano E.F., Ausenda C.,
Scarlato G.
Therapeutic trials of mitochondrial encephalomyopathies.
The Italian Journal of Neurological Sciences.Aprile 1992
vol 13, Suppl 3, pg. 81-86.
13.
Ravasio A., Piscaglia M.G., Bresolin N., Pasquinelli M, Comi G.P., Moggio M.,
Curro' Dossi B.
Familial CPEO with multiple deletions of mitochondrial DNA: clinical, histological,
biochemical, and genetic studies.
The Italian Journal of Neurological Sciences.
vol 13 Suppl 3. pg.99-101, 1992.
14.
Ciucci G., Serra G., Neri W., Callegarini C., Comi G.P., Rebucci G.G.
Neurophysiological findings in mitochondrial cytopathy: observations in 6 cases.
The Italian Journal of Neurological Sciences.Aprile 1992
vol 13, Suppl 3. pg. 111-116.
15.
N. Bresolin, G.P. Comi, F. Fortunato, G. Meola, A. Gallanti, A. Tajana,
M. Velicogna, E.F. Gonano, P. Ninfali, S. Pifferi, G. Scarlato.
Clinical and biochemical evidence of skeletal muscle involvement in galactose-1phosphate uridyl transferase deficiency.
Journal of Neurology, 240, 272-277, 1993.
16.
Prelle A., Moggio M., Checcarelli N, Comi G., Bresolin N, Battistel A., Bordoni A.,
Scarlato G.
Multiple deletions of mitochondrial DNA in a patient with periodic attacks of
paralysis.
Journal of the Neurological Sciences ,11, 24-27, 1993.
17.
Miletich R.S., Comi G., Bankiewicz K., Plunkett R., Adams R., Di Chiro, G.
Kopin I.
Pag. 92 di 81
6-[18F]Fluoro-L-Dopa metabolism and positron emission tomography after catecholO-methyl transferase inhibition in normal and hemiparkinsonian monkeys.
Brain Research, 626, 1-13, 1993.
18.
G.P. Comi, A. Prelle, N. Bresolin , M. Moggio, A. Bardoni, A. Gallanti, G. Vita,
A. Toscano, M.T. Ferro', A. Bordoni, F. Fortunato, P. Ciscato, G. Felisari,
S. Tedeschi, E. Castelli, R. Garghentino, A. Turconi, P. Fraschini, E. Marchi,
G.G. Negretto, L. Adobbati, G. Meola, P. Tonin, A. Papadimitriou, G. Scarlato.
Clinical variability in Becker muscular dystrophy. Genetic, biochemical and
immunohistochemical correlates.
Brain, 117, 1-14, 1994.
19.
Prelle A., Fagiolari G., Checcarelli N., Moggio M., Battistel A., Comi G.P.,
Bazzi P., Bordoni A., Zeviani M., Scarlato G.
Mitochondrial myopathy: correlation between oxidative defect and mitochondrial
DNA deletions at single fiber level.
Acta Neuropathologica, 87: 371-376, 1994.
20.
Checcarelli N, Prelle A., Moggio M., Comi G., Bresolin N., Papadimitriou A.,
Fagiolari G., Bordoni A., Scarlato G.
Multiple deletions of mitochondrial DNA in sporadic and atypical cases of
encephalomyopathy.
Journal of the Neurological Sciences, 123: 74-79, 1994.
21.
Bet L., Moggio M., Comi G.P., Mariani C., Prelle A., Checcarelli N., Bordoni A.,
Bresolin N., Scarpini E., Scarlato G.
Multiple sclerosis and mitochondrial myopathy: an unusual combination of diseases.
Journal of Neurology, 241: 511-516, 1994
22.
Fassati A., Bordoni A., Amboni P., Fortunato F., Fagiolari G., Bresolin N.,
Prelle A., Comi G., Scarlato G.
Chronic progressive external ophthalmoplegia: a comparative study of quantitative
molecular data and histochemical and biochemical profile.
Journal of the Neurological Sciences, 123: 140-146, 1994.
23.
Bresolin N., Castelli E., Comi G.P., Felisari G., Bardoni A., Perani D., Grassi F.,
Turconi A., Mazzucchelli F., Gallotti D., Moggio M., Prelle A., Ausenda C., Fazio
G., Scarlato G.
Cognitive impairment in Duchenne Muscular Dystrophy.
Neuromuscular Disorders, 4 (4): 359-369, 1994.
24.
Mariotti C., Savarese N., Soumalainen A., Rimoldi M., Comi G., Prelle A., Antozzi
C., Servidei S., Jarre L., Di Donato S., Zeviani M.
Genotype to phenotype correlations in mitochondrial encephalomyopathies associated
with the A3243G mutation of mitochondrial DNA.
Journal of Neurology, 242: 304-213, 1995.
25.
Bresolin N., Comi G.P., Ausenda C., Mazzucchelli F., Bardoni A., Robotti M.
Recent advances on molecular genetics of neuromuscular diseases.
Neuropathology and Applied Neurobiology, 21(S1), 30-31, 1995.
Pag. 93 di 81
26.
Moroni I., Gonano E.F., Comi G.P., Tegazzin V., Prelle A., Bordoni A.,
Bresolin N., Scarlato G.
Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.
Journal of Neurology, 242: 127-133, 1995.
27.
Toscano A., Vitiello L., Comi G.P., Cavagni F., Prelle A., Fortunato F., Bardoni A.,
Fiumara A., Falsaperla R., Tomelleri G., Tonin P., Danieli G.A., Messina C. Vita G.
Duplication of dystrophin gene and dissimilar clinical phenotype in the same
family.
Neuromuscular disorders, 4: 475-481, 1995.
28.
Rigoletto C., Prelle A., Ciscato P., Moggio M., Comi G., Fortunato F., Scarlato G.
Utrophin expression during human fetal development
Int J Dev Neuroscience, 13: 585-593, 1995.
29.
Comi G.P., Ciafaloni E., Da Silva R.H.A., Prelle A., Bardoni A., Rigoletto C.,
Robotti M., Bresolin N., Moggio M., Fortunato F., Ciscato P., Turconi A., Roses
A.D., Scarlato G.
A G+1>A transversion at the 5' splice site of intron 69 of the dystrophin gene causing
the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD
patient
Human Molecular Genetics, 4: 2171-2174, 1995.
30.
Rapuzzi S., Prelle A., Moggio M., Rigoletto C., Ciscato P., Comi G., Francesca F.,
Scarlato G.
High serum creatin kinase levels associated with cylindrical spirals at muscle biopsy.
Acta Neuropathologica, 90: 660-664, 1995.
31.
Zeviani M., Amati P., Comi G., Fratta G., Mariotti C., Tiranti V.
Searching for genes affecting the structural integrity of mitochondrial genome.
Biochimica et Biophysica Acta, 1271: 153-158, 1995.
32.
Papadimitriou A., Hadjigeorgiou G.M., Divari R., Papagalanis N., Comi G.,
Bresolin N.
The influence of Coenzyme Q10 on total serum calcium concentration in two
patients with Kearns-Sayre Syndrome and hypoparathyroidism.
Neuromuscular Disorders, 6: 49-53, 1996.
33.
Kaukonen J.A., Amati P., Soumalainen A., Rotig A., Piscaglia M.G., Salvi F.,
Weissenbach J., Fratta G., Comi G., Peltonen L., Zeviani M.
An autosomal locus predisposing to multiple deletions of mtDNA on chromosome
3p.
American Journal of Human Genetics, 58: 763-769, 1996.
34.
Toscano A., Santoro M., Vita G., Girlanda P., Sinicropi S., Fazio M.C., Mazzeo
Rodolico C., Agennouz M., Bartolone S., Bet L., Comi G.P., Messina C.
Late-onset mitochondrial neuromyopathy: an age-related phenomenon?
Archives of Gerontology and Geriatrics, S5: 577-584, 1996.
35.
Ausenda C.D:, Bresolin N., De Liso A., D'Angelo M.G., Moggio M., Del Bo R.,
Gallanti A., Comi G.P., Torrente Y., Bordoni A., Scarlato G.
A.,
Pag. 94 di 81
In vivo biolistic technique in control and mdx dystrophic mice.
Muscle and Nerve, 19 (7) 912-914, 1996.
36.
Bresolin N., Comi G.P., Ausenda C., Robotti M., Colucci M., Scarlato G.
MtDNA defects in degenerative disorders
Basic and Applied Myology, 6 (2), 79-89,
37.
Prelle A., Rigoletto C., Moggio M., Sciacco M., Comi G.P., Ciscato P., Fagiolari S.,
Rapuzzi S., Bignotti V., Scarlato G.
Asymptomatic familial hyperCKemia associated with desmin accumulation in
skeletal muscle.
Journal of the Neurological Sciences, 140: 132-136, 1996.
38.
R. Del Bo, G.P. Comi, N. Bresolin, E. Castelli, E. Conti, A. Degiuli, C.D. Ausenda and G.
Scarlato.
The Apolipoprotein E 4 allele causes a faster decline of cognitive performances in
Down’s syndrome subjects.
Journal of the Neurological Sciences, 145: 87-91, 1997.
39.
Bresolin N., Ausenda C.D., Casati R., Torrente Y., De Liso A., D'Angelo M.G.,
Benti R., Moggio M., Baldessari S., Comi G.P., Colombo F., Gerundini P., Scarlato G.
Intra-aortic injection of myoblasts in mdx mice: genetic and Tc-99m cell labelling and
biodistribution.
Muscle and Nerve, 20:757-759, 1997.
40.
Prelle A, Comi GP, Rigoletto C, Turconi A, Felisari G, Ciscato P, Fortunato F, Messina S,
Bresolin N, Mora M, Moggio M, Scarlato.G.
An atypical case of partial merosin deficiency congenital muscular dystrophy.
Journal of Neurology, 391-395,1997.
41.
Ausenda CD, D'Angelo MG, Bresolin N, Nesti S, Bordoni A, Del Bo R, Baldessari S, Comi
GP, Scarlato G.
Forced expression of MyoD creates a muscle-specific test system for exogenous genes.
Basic and Applied Myology,7:375-380, 1997.
42.
Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, Fortunato F, Zeviani M,
Napoli L, Bresolin N, Moggio M, Ausenda CD, Taanman JW, Scarlato G. Cytochrome c
Oxidase Subunit I microdeletion in a patient with Motor Neuron Disease.
Annals of Neurology, 43, 110-116, 1998.
43.
Manning B.M., Quane K.A., Lynch P.J., Urwyler A., Tegazzin V, Krivosic-Horber R.,
Censier K., Comi G., Adner P, Wolz W., Lunardi J, Muller C.R., McCarthy TV.
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hypertermia.
Human Mutation, 11:45-50, 1998
44.
Manning BM, Quane KA, Ording H, Urwyler A, Tegazzin V, Lehane M, Halloren JO,
Hartung E, Giblin L, Lynch P, Vaughan P, Censier K, Bendixen D, Comi G, Heytens L,
Monsieurs K, Fagerlund T, Woltz W, Heffron JJA, Muller CR, Mc Carthy TV
Identification of novel mutations in the ryanodine receptor gene (RYR1) in malignant
hyperthermia: genotype-phenotype correlations.
American Journal of Human Genetics, 62: 599-609, 1998.
Pag. 95 di 81
45.
Prelle A, Comi GP, Tancredi L, Rigoletto C, Ciscato P, Fortunato F, Nesti S, Sciacco
M, Robotti M, Bazzi P, Felisari G, Moggio M, Scarlato G.
Sarcoglycan deficiency in a large italian population of myopathic patients.
Acta Neuropathologica, 96: 509-514, 1998.
46.
Franceschina L, Salani S, Bordoni A, Sciacco M, Napoli L, Comi GP, Prelle A,
Fortunato F, Hadjigeorgiou GM, Farina E, Bresolin N, D'Angelo MG, Scarlato G.
A novel mitochondrial tRNAIle point mutation in chronic progressive external
ophthalmoplegia.
Journal of Neurology, 245: 755-758, 1998.
47.
Papadimitriou A, Comi GP, Hadjigeorgiou GM, Bordoni A, Sciacco M, Napoli L,
Prelle A, Moggio M,. Fagiolari G, Bresolin N, Salani S, Anastasopoulos I, Giassakis
G, Divari R, Scarlato G.
Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE
syndrome.
Neurology, 51: 1086-1092, 1998.
48.
D'Angelo MG, Ausenda CD, Torrente Y, Bordoni A, Corti S, Perini MP, Colucci M,
Comi GP, Bresolin N, Scarlato G.
5' Azacytidine enhances exogenous gene expression in skeletal muscle
Basic and Applied Myology, 9 (1): 1-6; 1999.
49.
Arbustini E., Fasani R., Morbini P., Diegoli M., Grasso M., Dal Bello B., Marangoni
E., Banfi P., Bancheri N., Bellini O., Comi G., Narula J., Campana C., Gavazzi A.,
Danesino C., Viganò M.
Coexistence of mitochondrial DNA and β miosin heavy chain mutations
in hypertrophic cardiomyopathy with late congestive heart failure
Heart, 80: 548-558, 1998
50.
Torrente Y., M.G. D'Angelo, R. Del Bo, A. DeLiso, R. Casati, R. Benti, S. Corti, G.P. Comi,
P. Gerundini, A. Anichini, G. Scarlato, N. Bresolin
Extracorporeal circulation as a new experimental pathway for myoblast implantation in mdx
mice.
Cell Transplantation, 8: 247-258; 1999.
51.
Bardoni A., Sironi M., Felisari G., Comi G.P., Bresolin N.
Absence of brain Dp140 isoform and cognitive impairment in Becker muscular
dystrophy.
The Lancet, 353: 897-898; 1999.
52.
Hadjigeorgiou G.M., Comi G.P., Bordoni A., Shen J., Chen Y-T., Salani S., Toscano A.,
Fortunato F., Lucchiari S., Bresolin N., Rodolico C., Piscaglia M.G., Franceschina L.,
Papadimitriou A., Scarlato G.
Novel donor splice site mutations of AGL gene in Glycogen Storage Disease type IIIa
Journal of Inherited Metabolic Disease, 22: 762-763; 1999.
53.
Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff
L, Gerbitz KD, Comi GP, Uziel G, Zeviani M, Meitinger T
Pag. 96 di 81
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with
cytochrome c oxidase deficiency
Annals of Neurology, 46(2):161-6, 1999.
54
Kaukonen J, Zeviani M, Comi GP, Piscaglia MG, Peltonen L, Suomalainen A
A third locus predisposing to multiple deletions of mtDNA in autosomal
dominant progressive external ophthalmoplegia
American Journal of Human Genetics 1999 Jul;65(1):256-6.
55.
Turconi A.C., Benti R., Castelli E., Pochintesta S. Felisari G., Comi G., Gagliardi C.,
Del Piccolo L., Bresolin N.
Focal cognitive impairment in mitochondrial encephalomyopathies: a
neuropsychological and neuroimaging study.
Journal of the Neurological Sciences 170: 57-63; 1999.
56.
Bardoni A, Felisari G., Sironi M., Comi G., Lai M., Robotti M. Bresolin N.
Loss of Dp140 regulatory sequences is associated with cognitive impairment in
dystrophinopathies.
Neuromuscular Disorders 10(3):194-199; 2000.
57.
Prelle A., Sciacco M., Comi G.P., Messina M., Carpo M., Ciscato P., Nobile-Orazio
E., Fortunato F., Mora G:, Bignotti V., Fagiolari G., Moggio M., Scarlato G.
A sporadic, atypical case of desminopathy: morphological and immunological
characterization.
Clinical Neuropathology, 19 (4):208-212; 2000.
58.
Musumeci O., Andreu A.L., Shanke S., Bresolin N., Comi G.P., Rothstein R., Schon
E.A. DiMauro. S.
Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with
mitochondrial myopathy.
American Journal of Human Genetics, 66: 1900-1904; 2000.
59.
Felisari G., Martinelli Boneschi F., Bardoni A., Sironi , Comi G.P., Bresolin N.
Loss of Dp140 apodystrophin and intellectual impairment in Duchenne Dystrophy.
Neurology, 55: 559-564, 2000.
60.
Torrente Y, D'Angelo M.G., Li Z., Del Bo R, Corti S., Mericskay M., DeLiso A.,
Fassati A, Paulin D., Comi G.P., Scarlato G., Bresolin N.,
Transplacental injection of somite-derived cells in mdx mouse embryos for the
correction of dystrophin deficiency .
Human Molecular Genetics, 9: 1843-1852; 2000.
61.
Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP, Keranen S,
Peltonen L, Suomalainen A.
Role of adenine nucleotide translocator 1 in mtDNA maintenance.
Science, 289: 782-785, 2000.
61.
Del Bo R, Torrente Y; Corti S, D'Angelo M.G, G.P. Comi, G. Fagiolari, S. Salani, A. Cova,
F. Pisati, M.Moggio, C. Ausenda, G. Scarlato, N. Bresolin
In vitro and in vivo tetracycline-controlled myogenic conversion of NIH-3T3 cells: evidence
Pag. 97 di 81
of programmed cell death after muscle cell transplantation
.
Cell Transplantation,. 10:209-221, 2001.
63.
Roberto Del Bo, Giacomo Pietro Comi, Maria Paola Perini, Sandra Strazzer, Nereo Bresolin,
Guglielmo Scarlato
Down syndrome fibroblasts anticipate the accumulation of specific ageing-related mtDNA
mutations.
Annals of Neurology, 49:137-138, 2001.
64.
R. Cagliani, G.P. Comi, L. Tancredi, M. Sironi, F. Fortunato, R. Giorda, A. Bardoni, M.
Moggio, A. Prelle, N. Bresolin, G. Scarlato
Primary Beta-Sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria.
Neuromuscular disorders, 11:389-394, 2001.
65.
Corti S., Salani S., Del Bo R. Torrente Y., Strazzer S., Belicchi M., Paganoni S., Li Z., Comi
G.P., Bresolin N., Paulin D., Scarlato G.
T-antigen regulated expression reduces apoptosis of Tag transformed myoblasts.
Cellular and Molecular Life Science, 58:135-140, 2001.
66.
Savasta S. Comi G. P., Perini M. P., Lupi A., Strazzer S., Rognone F., Rossone R.
Leigh's Syndrome: clinical, neuroradiological and biochemical study of three new cases with
Cytochrome c Oxidase deficiency.
Journal of Child Neurology. 16: 608-613, 2001.
67.
Sciacco M., Fagiolari G., Lamperti C., Messina M., Bazzi P., Napoli L., Chiveri L., Prelle A.,
Comi G.P., Bresolin N., Scarlato G.
Lack of apoptosis in mitochondrial encephalomyopathies.
Neurology, 56:1070-1074, 2001.
68.
M. Sironi, S. Corti, F. Locatelli, R. Cagliani, Comi G.P.
A novel splice site mutation in the dystrophin gene determining total exon skipping and DMD
phenotype
Human Mutation, 17 (3): 239, 2001.
69.
Sironi M., Bardoni A., Felisari G., Cagliani R., Robotti M., Comi G.P., Moggio M., Bresolin
N.
Transcriptional activation of the non muscle full-length dystrophin isoforms in Duchenne
Muscular Dystrophy skeletal muscle.
Journal of the Neurological Sciences, 186: 51-7, 2001.
70. Lucchiari S., Fogh I., Parini R., Bresolin N., Prelle A., Melis D., Scarlato G., Comi G.P.
Heterogeneous mutations of amylo-1,6-glucosidase, 4-glucanotransferase enzyme gene in
Mediterranean Glycogen Storage Disease type IIIa patients.
American Journal of Medical Genetics, 109: 183-190, 2002.
71.
Sciacco M., Prelle A., Comi G.P., Napoli L., Battistel A., Bresolin N., Tancredi L., Lamperti
C., Bordoni A., Fagiolari G., Chiveri L., Perini M.P., Fortunato F., Adobbati L., Messina S.,
Toscano A., Martinelli-Boneschi F., Papadimitriuou A., Scarlato G., Moggio M.
Retrospective study of a large population of patients affected with mitochondrial disorders:
clinical, morphological and molecular genetic evaluation.
Journal of Neurology, 248: 778-788, 2001.
Pag. 98 di 81
72.
Comi G.P, Fortunato F., Lucchiari S., Bordoni A., Prelle A., Jann S., Keller A., Ciscato P.,
Galbiati S., Chiveri L., Torrente Y., Scarlato G., Bresolin N.
Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.
Annals of Neurology, 50: 202-207, 2001.
73.
Corti S., Salani S., Del Bo R. Sironi M., Strazzer S., D'Angelo M.G., Comi G.P., Bresolin N.,
Scarlato G.
Chemotactic factors enhance myogenic cells migration across an endothelial monolayer.
Experimental Cell Research, 268: 36-44, 2001
74.
Sironi M., Pozzoli U., Cagliani R., Comi G.P, Bardoni A., Bresolin N.
Analysis of splicing parameters in the dystrophin gene: relevance for physiological and
pathogenetic splicing mechanisms
Human Genetics, 109: 73-84, 2001.
75.
Spelbrink J.N., Li F.-Y., Tiranti V., Nikali K., Yuan Q.-P., Tariq M., Wanrooij S., Garrido N.,
Comi G., Morandi L., Santoro L., Toscano A., Fabrizi G.M., Somer H., Croxen R., Beeson
D., Poulton J., Suomalainen A., Jacobs H.T., Zeviani M., Larsson C.
Human mitochondrial DNA deletions associated with mutations in the gene for TWINKLE, a
phage T7 gene 4-like protein localized to mitochondrial nucleoids.
Nature Genetics, 28:223-31, 2001.
76.
Prelle A., Tancredi L., Chiveri L., Comi G.P., Sciacco M., Battistel A., Ciscato P.,
Bordoni A., Fortunato F., Strazzer S., Napoli L., Scarlato G., Moggio M.
Retrospective study of a large population of patients with asymptomatic or minimally
symptomatic raised serum creatine kinase levels.
Journal of Neurology, 249(3):305-11, 2002.
77.
Napoli L. , Bordoni A., Zeviani M., Hadjigeorgiou G.M., Sciacco M., Tiranti V., Terentiou A,
Moggio M., Papadimitriou A., Scarlato G., Comi G.P.
A novel missense Adenine Nucleotide Translocator-1 gene mutation in a Greek adPEO
family.
Neurology, 57: 2295-2298, 2001.
78.
Pozzoli U., Sironi M., Cagliani R., Comi G.P., Bardoni A., Bresolin N.
Comparative analysis of the human dystrophin and utrophin gene structures.
Genetics, 160(2):793-798. 2002.
79.
Fagiolari G., Sciacco M., Lamperti C., Prelle A., Chiveri L., Comi G.P., Scarlato G., Moggio
M. A
Lack of of apoptosis in skeletal muscle tissue of PEO patients with mutations in the Adenine
Nucleotide Translocator-1 gene.
Muscle Nerve, 26: 265-269, 2002.
80.
Sironi M., Caglian R., Bardoni A., Comi G.P., Bresolin N.
The dystrophin gene is alternatively spliced throughout its coding sequence.
FEBS Letters 517:163-166, 2002.
81.
Lamantea E., Tiranti V., Bordoni A., Toscano A., Bono F., Servidei S., Papadimitriou A.,
Spelbrink H., Silvestri L., Casari G., Comi G.P., Zeviani M..
Pag. 99 di 81
Mutations of mitochondrial DNA polymerase  are a frequent cause of autosomal dominant
or recessive Progressive External Ophthalmoplegia.
Annals of Neurology, 52:211-219, 2002
82. Corti S, Strazzer S, Del Bo R., Salani S., Bossolasco P., Fortunato F., Locatelli F.,
Soligo D., Moggio M., Ciscato P., Prelle A., Bresolin N., Scarlato N., Comi G.P.
A subpopulation of murine bone marrow cells fully differentiates along the myogenic
pathway and participates in muscle repair in the mdx dystrophic mouse.
Experimental Cell Research, 277:74-85, 2002.
83.
Corti S, Locatelli F., Strazzer S, Salani S., Del Bo R., Soligo D., Bossolasco P., Bresolin N.,
Scarlato N., Comi G.P.
Modulated generation of neuronal cells from bone marrow by expansion and mobilization of
circulating stem cells with in vivo cytokine treatment.
Experimental Neurology, 177: 443-52; 2002
84.
Corti S, Locatelli F., Donadoni C., Strazzer S, Salani S., Del Bo R., Caccialanza M., Bresolin
N., Scarlato N., Comi G.P.
Neuroectodermal and microglial differentiation of bone marrow cells in the mouse spinal cord
and sensory ganglia.
Journal of Neuroscence Research, 70:721-33, 2002
85.
Crimi M., Sciacco M., Galbiati S., Bordoni A., Malferrari G., Del Bo R. Biunno I, Bresolin
N., Comi GP.
A collection of nuvel unpublished human mtDNA homoplasmic variants.
Human Mutation, 20: 409, 2002.
86.
Del Bo R., Bordoni A., Martinelli Boneschi F., Crmi M., Sciacco M, Bresolin N, Scarlato G,
Comi G.P.
Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle
from healthy subjects and mitochondrial patients.
Journal of Neurological Science 202: 85-91, 2002.
87.
Cagliani R, Bardoni A., Sironi M., Fortunato F., Prelle A., Felisari G., Bonaglia M.C.,
D’Angelo M.G. , Moggio M., Bresolin N., Comi G.P.
Two dystrophin proteins and transcripts in a mild dystrophinopatic patient. Neuromuscular
Disorders, 2003 Jan;13(1):13-6
88.
Lucchiari S., Parrini R., Bresolin N., Scarlato G. Comi G.P.
Molecular Characterization of GSD III Subjects: Identification of Six Novel Mutations
in AGL Gene
Human Mutation, 20(6):480, 2002.
89.
Scarlato G., Comi G.P.
Metabolic and drug-induced muscle disorders.
Current Opinion in Neurology, 15(5):533-8. 2002.
90.
Sironi M., Pozzoli U., Cagliani R., Giorda R., Comi G.P., Bardoni A., Menozzi G., Bresolin N.
Relevance of sequence and structure elements for deletion events in the dystrophin gene
major hot-spot.
Pag. 100 di
Human Genetics, 2003 Mar;112(3):272-88.
91.
Prelle A, Sciacco M, Tancredi L, Fagiolari G, Comi GP, Ciscato P, Serafini M, Fortunato F,
Zecca C, Gallanti A, Chiveri L, Bresolin N, Scarlato G, Moggio M.
Clinical, morphological and immunological evaluation of six patients with dysferlin
deficiency.
Acta Neuropathologica, 2003 Jun;105(6):537-42.
92.
Del Bo R., Crimi M. , Sciacco M., Malferrari G., Napoli L., Prelle A., Biunno I., Moggio M.,
Bresolin N., Scarlato G., Comi G.P.
High mutational burden in the mtDNA control region from aged muscles: a single-fiber
study.
Neurobiology of Aging, 2003 Oct;24(6):829-38.
93.
Crimi M., Galbiati S., Perini M.P., Bordoni A., Malferrari G., Sciacco M., Biunno I.,
Strazzer S., Moggio M., Bresolin N., Comi G.P.
A mitochondrial tRNAHis gene mutation causing pigmentary retinopathy and neurosensorial
deafness.
Neurology, 2003 Apr 8;60(7):1200-3.
94.
Sironi M, Cagliani R, Comi GP, Pozzoli U, Bardoni A, Giorda R, Bresolin N.
Trans-acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles.
FEBS Letters. 2003 Feb 27;537(1-3):30-4
95.
Pozzoli U, Elgar G, Cagliani R, Riva L, Comi GP, Bresolin N, Bardoni A, Sironi M.
Comparative analysis of vertebrate dystrophin loci indicate intron gigantism as a common
feature.
Genome Research. 2003 May;13(5):764-72.
96. Del Bo R, Comi GP, Giorda R, Crimi M, Locatelli F, Martinelli-Boneschi F, Pozzoli U,
Castelli E, Bresolin N, Scarlato G.
The 129 codon polymorphism of the Prion Protein gene influences earlier cognitive
performance in Down syndrome subjects.
Journal of Neurology 2003 Jun;250(6):688-92.
97. Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MP, Lamantea E, Sciacco M, Zeviani M,
Biunno I, Moggio M, Scarlato G, Comi GP.
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS
overlap syndrome.
Neurology. 2003 Jun 10;60(11):1857-61.
98.
Del Bo R, Baron P, Prelle A, Serafini M, Moggio M, Di Fonzo A, Castagni M, Bresolin N,
Comi GP.
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusionbody myopathy.
Muscle Nerve. 2003 Jul;28(1):113-7.
99.
Corti S, Locatelli F, Strazzer S, Guglieri M, Comi GP.
Neuronal generation from somatic stem cells: current knowledge and perspectives on the
treatment of acquired and degenerative central nervous system disorders.
Current Gene Therapy. 2003 Jun;3(3):247-72.
Pag. 101 di
100. Lucchiari S., Donati MA, Melis D, Filocamo M, Parini R, Bresolin N., Comi GP
Mutational Analysis in AGL Gene: Five Novel Mutations in GSD III Patients
Human Mutation, 2003 Oct;22(4):337.
101. Crimi M., del Bo R., Galbiati S., Sciacco M., Bordoni A., Bresolin N., Comi GP.
Mitochondrial A12308G polymorphism affects clinical features in patients with single
mtDNA macrodeletion
European Journal of Human Genetics, Nov;11(11):896-8., 2003.
102. Del Bo R, Bordoni A, Sciacco M, Di Fonzo A, Galbiati S, Crimi M, Bresolin N, Comi GP.
Remarkable infidelity of polymerase gammaA associated with mutations in POLG1
exonuclease domain.
Neurology. 2003 Oct 14;61(7):903-908.
103. Di Fonzo A., Bordoni A., Crimi M., Galbiati S., Del Bo R., Bresolin N., Comi G.P.
POLG Mutations in Sporadic Mitochondrial Disorders with Multiple mtDNA Deletions
Human Mutation, 674, 2003.
104. Cagliani R., Bresolin N., Pelle A., Gallanti A., Fortunato F., Sironi M., Ciscato P., Fagiolari
G., Bonato S., Galbiati S., Corti S., Lamperti C., Moggio M. Comi G.P.
A CAV3 microdeletion differentially affects skeletal muscle and myocardium.
Neurology, 61: 1513-1517, 2003.
105. Sciacco M., Prelle A. D’Adda E., Lamperti C., Bordoni A., Rango M., Comi GP, Bresolin N,
Moggio M.
Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the
same generation: a morphological, genetic and spectroscopy.
Journal of Neurology, 250(12):1498-500, 2003.
106. Locatelli F., Corti S., Donadoni C., Guglieri M., Capra F., Strazzer S., Salani S., Del Bo R.,
Fortunato F., Bordoni A. Comi G.P.
Neuronal Differentiation of Murine Bone Marrow Thy-1 and Sca-1 positive cells.
Journal of Hematotherapy and Stem Cell Research. 12 (6):727-34, 2003.
107.
Cagliani R., Fortunato F, Giorda R, Rodolico C, Bonaglia C., Sironi M., D’Angelo MG,
Prelle A., Locatelli F, Toscano A, Bresolin N, Comi G.P,
Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations
and possible founder effect in the Italian population.
Neuromuscular Disorders, 13:788-795, 2003.
108.
Toscano A., Musumeci O., Cagliani R., Aguennouz M., Comi G.P., Messina C.,
Vita G.
Muscle calpain-3 deficiency in quail eater’s disease
Annals of Neurology, 55:146-147, 2004.
109.
Gironi M., Lamperti C., Nemni R., Moggio M., Comi G.P., Guerini F.R., BD, Ferrante P.,
Bresolin N., Canal N., DiMauro S.
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10
deficiency.
Neurology, 9;62(5):818-20, 2004.
Pag. 102 di
110.
Crimi M., Galbiati S., Sciacco M., Natali M.G., Raimondi M., Bordoni A., Bresolin N.,
Comi G.P.
Mitochondrial-DNA nucleotides 4298 and 10010 as pathogenic mutation sites: the
confirmation in two new cases.
Mitochondrion, 3(5): 279-283, 2004
111.
Crimi M. Papadimitriou A., Galbiati S., Palamidou P., Fortunato F., Bordoni A.,
Papandreou U., Papadimitriou D., Hadjigeorgiou GM., Drogari E., Bresolin N., Comi G.P.
A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with
early lethality.
Pediatric Research, 55(5):842-6., 2004.
112.
Bossolasco P., Corti S., Strazzer S., Borsetti C., del Bo R., fortunato F., Salani S., Quirici
N., Bertolini F., Gobbi A., Lambertenghi Deliliers G., Comi G.P., Soligo D.
Skeletal muscle differentiation potential of human adult bone marrow.
Experimental Cell Research, 15;295(1):66-78., 2004.
113.
Sironi M, Menozzi G, Riva L, Cagliani R, Comi G.P., Bresolin N, Giorda R, Pozzoli U.
Silencer elements as possible inhibitors of pseudoexon splicing.
Nucleic Acids Res. 2004 Mar 19;32(5):1783-91.
114.
Cagliani R. Sironi M., Ciafaloni E., Bardoni A., Fortunato F., Prelle A., Serafini M.,
Bresolin N., Comi G.P.
An intragenic deletion/inversion event in the DMD gene determines a novel exon creation
and results in a BMD phenotype
Human Genetics, 115(1):13-8, 2004,
115.
Salani S, Lucchiari S, Fortunato F, Crimi M, Corti S, Locatelli F, Bossolasco P, Bresolin N,
Comi GP.
Developmental and tissue-specific regulation of a novel dysferlin isoform.
Muscle and Nerve, 30(3):366-74, 2004.
116.
Pozzoli U, Riva L, Menozzi G, Cagliani R, Comi GP, Bresolin N, Giorda R, Sironi M.
Over-representation of exonic splicing enhancers in human intronless genes suggests
multiple functions in mRNA processing.
Biochem Biophys Res Commun. 17;322(2):470-6, 2004
117. Corti S, Locatelli F, Papadimitriou D, Strazzer S, Comi GP.
Somatic stem cell research for neural repair: current evidence and emerging perspectives.
J Cell Mol Med. 2004 Jul-Sep;8(3):329-37.
118.
Corti S, Locatelli F, Donadoni C, Guglieri M, Papadimitriou D, Strazzer S, Del Bo R, Comi
GP.
Wild-type bone marrow cells ameliorate the phenotype of SOD1-G93A ALS mice and
contribute to CNS, heart and skeletal muscle tissues.
Brain. 2004;127:2518-32.
119
Donadoni C, Corti S, Locatelli F, Papadimitriou D, Guglieri M, Strazzer S, Bossolasco P,
Salani S, Comi GP.
Improvement of combined FISH and immunofluorescence to trace the fate of somatic stem
Pag. 103 di
cells after transplantation.
J Histochem Cytochem. 2004 Oct;52(10):1333-9.
120
Del Bo R, Scarlato M, Ghezzi S, Martinelli Boneschi F, Fenoglio C, Galbiati S, Virgilio R,
Galimberti D, Galimberti G, Crimi M, Ferrarese C, Scarpini E, Bresolin N, Comi GP.
Vascular endothelial growth factor gene variability is associated with increased risk for AD.
Annals of Neurology, 2005 Feb 24;57(3):373-380
121.
Crimi M, Bordoni A, Menozzi G, Riva L, Fortunato F, Galbiati S, Del Bo R, Pozzoli U,
Bresolin N, Comi GP.
Skeletal muscle gene expression profiling in mitochondrial disorders.
FASEB J. 2005; 19(7):866-868.
122
Guidi I, Galimberti D, Venturelli E, Lovati C, Bo RD, Fenoglio C, Gatti A, Dominici R,
Galbiati S, Virgilio R, Pomati S, Comi GP, Mariani C, Forloni G, Bresolin N, Scarpini E.
Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine
levels in AD patients.
Neurobiol Aging. 2005 Jun;26(6):789-94.
123.
Scarlato M, Previtali SC, Carpo M, Pareyson D, Briani C, Del Bo R, Nobile-Orazio E,
Quattrini A, Comi GP.
Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis.
Brain 2005, 128:1911-20.
124.
Sironi M., Menozzi G., Comi G.P., Bresolin N., Cagliani R., Pozzoli U.
Fixation of conserved sequences shapes human intron size and influences transposon
insertion dynamics
Trends in Genetics, 2005, 21(9):484-8,
125.
Guglieri M., Magri F., Comi G.P.
Molecular etiopathogenesis of Limb Girdle Muscular and Congenital Muscular Dystrophies:
boundaries and contiguities
Clinical Chimica Acta, 2005, 361(1-2):54-79, 2005
126.
Cagliani R., Magri F., Toscano A., Merlini L., Fortunato F., Lamperti C., Rodolico C.,
Prelle A., Sironi M., Aguennouz M., Ciscato P., Uncini A., Moggio M., Bresolin N. Comi
G.P..
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting
proteins annexin A1 and A2 in muscular dystrophies.
Human Mutation, 26(3):283, 2005
127.
Corti S., Locatelli F., Papadimitriou D., Strazzer S., Bonato S., Comi G.P.
Nuclear reprogramming and adult stem cell potential
Histology and Histopathology, 2005, 20(3):977-86.
128.
Corti S., Locatelli F., Papadimitriou D., Donadoni C., Del Bo R., Fortunato F.,
trazzer S., Salani S., Bresolin N., Comi G.P.
Multipotentiality, homing properties and pyramidal neurogenesis of CNS-derived LeX(ssea1)+/CXCR4+ stem cells
FASEB Journal. 19(13):1860-1862, 2005
Pag. 104 di
129.
Sironi M.., Menozzi G., Comi G.P., Cagliani R., Bresolin N., Pozzoli U. Analysis of
intronic conserved elements indicates that functional complexity might represent a
major source of negative selection on noncoding sequences.
Human Molecular Genetics, 14(17):2533-46, 2005
130.
Del Bo R., ScarlatoM., Ghezzi S., Martinelli-Boneschi F., Fenoglio C., Galimberti G.,
Galbiati S., Virgilio R., Galimberti D., Ferrarese C., Scarpini E., Bresolin N., Comi G.P.
Is M129V of PRNP gene associated with Alzheimer’s disease? A case-control study and a
meta-analysis.
Neurobiology of Aging. 27(5):770.e1-770.e5., 2006.
131.
Galbiati S., Bordoni A., Papadimitriou D., Toscano A., Rodolico C., Katsarou E., Sciacco
M., GarufiA., Prelle A., Aguennouz M., Bonsignore M., Crimi M., MartinuzziA., Bresolin
N., Papadimitriou A., Comi G.P.
New mutations in TK2 gene associated with mitochondrial DNA depletion
Pediatric Neurology, 34:177-185, 2006.
132.
Corti S, Locatelli F, Papadimitriou D, Donadoni C, Salani S, Del Bo R, Strazzer S, Bresolin
N, Comi GP.
Identification of a primitive brain-derived neural stem cell population based on aldehyde
dehydrogenase activity.
Stem Cells. 24:975-985, 2006
133.
D’Adda E., Sciacco M., Fruguglietti M.E., Crugnola V., Lucchini V., Martinelli-Boneschi,
Zecca C., Lamperti C., Comi G.P., Bresolin N., Moggio M., Prelle A.. Follow-up of a large
population of asymptomatic / oligosymptomatic hyperckemic subjects.
Journal of Neurology, Nov;253(11):1399-403, 2006.
134.
Corti S., Locatelli F., Papadimitriou D., Donadoni D., Del Bo R., Crimi M., Bordoni A.,
Fortunato F., Strazzer S., Menozzi G., Salani S., Bresolin N., Comi G.P.
Transplanted ALDHhiSSClo Neural Stem Cells Generate Motor Neurons and Delay Disease
Progression of nmd Mice, an Animal Model of SMARD1
Human Molecular Genetics, 15: 167-187, 2006.
135.
Del Bo R., Locatelli F., Corti S., Scarlato M., Ghezzi S., Prelle A., Fagiolari G., Moggio
M., Carpo M.,Bresolin N., Comi G.P. Coexistence of CMT-2D and distal SMA-V
phenotype in an Italian family with a GARS gene mutation”,
Neurology, 2006; 14;66(5):752-4
136.
Crippa F., Panzeri C., Martinuzzi A., Airoldi A., Redaelli F., Tonelli A., Baschirotto C.,
Mostacciuolo M.L., Daga A., Orso G., Profice P., D’Angelo M.G. MD ,Comi G.P., Galbiati
S., Lamperti C., Pandolfo M. , Meola G., Musumeci O., Toscano A., Trevisan C.P.,
Bresolin N., Bassi MT .
Eight novel mutations in SPG4 gene in a large sample of patients with Hereditary Spastic
Paraplegia
Archives of Neurology, 63:750-755, 2006
137.
Capasso M, De Angelis MV, Di Muzio A, Scarciolla O, Pace M, Stuppia L, Comi GP,
Uncini A.
Familial idiopathic hyper-CK-emia: An underrecognized condition.
Pag. 105 di
Muscle Nerve. 33:760-765, 2006.
138.
Lamperti C, Cagliani R, Ciscato P, Moroni I, Viri M, Romeo A, Fagiolari G,
Prelle A, Comi GP, Bresolin N, Moggio M.
Congenital muscular dystrophy with muscle inflammation, alpha dystroglycan
glycosylation defect and no mutation in FKRP gene.
Journal of the Neurological Sciences, 15;243(1-2):47-51, 2006.
139.
Del Bo R, Scarlato M, Ghezzi S, Maestroni A, Sjolind L, Forsblom C, Wessman M, Groop
PH, Comi GP, Bresolin N, Luzi L, Zerbini G.
VEGF gene variability and type 1 diabetes: evidence for a protective role. Immunogenetics.
58:107-112, 2006.
149.
Lucchiari S, Pagliarani S, Salani S, Filocamo M, Di Rocco M, Melis D, Rodolico C,
Musumeci O, Toscano A, Bresolin N,Comi G.P.
Hepatic and Neuromuscular Forms of Glycogenosis Type III: Nine Mutations in AGL Gene.
Human Mutation, 27(6):600-601, 2006.
150.
Sironi M., Pozzoli U., Comi G.P., Riva S., Bordoni A., Bresolin N., Nag D.K.
A region in the dystrophin gene major hot-spot harbors a cluster of deletion breakpoints and
generates double-strand breaks in yeast.
FASEB Journal, 20:1910-1912, 2006.
151.
Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S,
Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C.
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
Human Mutation, 27(7):718, 2006.
152.
Corti S, Locatelli F, Papadimitriou D, Del Bo R, Nizzardo M, Nardini M, Donadoni C,
Salani S, Fortunato F, Strazzer S, Bresolin N, Comi GP.
Neural stem cells LewisX+ CXCR4+ modify disease progression in an amyotrophic lateral
sclerosis model.
Brain. 2007,130:1289-305..
153.
Pozzoli U, Menozzi G, Comi GP, Cagliani R, Bresolin N, Sironi M. Intron size in
mammals: complexity comes to terms with economy.
Trends in Genetics. 2007 23(1):20-4.
154.
Valente L., Tiranti V., Marsano R,M,, Malfatti E., Fernandez-Vizarra E., Donnini C., De
Gioia L., Burlina A,, Castellan C, Comi G.P., Savasta S., Ferrero I, Zeviani M..
Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with
Mutations of Mitochondrial Elongation Factors EFG1 and EFTu.
American Journal of Human Genetics. 2007 80(1):44-58.
155.
Milic A., Daniele N., Bartoli M., Lochmuller H., Mora M, Comi G.P, Moggio M., Noulet
F., Poupiot J., Roudat C, Richard I.
In vitro assay for calpain 3 proteolytic activity indicates that around 30% of LGMD2A
biopsies have normal activity.
Neuromuscular Disorders, 2007 80(1):44-58.
Pag. 106 di
156.
Fabbro F, Marini A, Felisari G, Comi GP, D'Angelo MG, Turconi AC, Bresolin N.
Language disturbances in a group of participants suffering from Duchenne muscular
dystrophy: a pilot study.
Percept Mot Skills. 2007 Apr;104(2):663-76.
157.
Locatelli F, Corti S, Papadimitriou D, Fortunato F, Del Bo R, Donadoni C, Nizzardo M,
Nardini M, Salani S, Ghezzi S, Strazzer S, Bresolin N, Comi GP.
Fas small interfering RNA reduces motoneuron death in amyotrophic lateral sclerosis mice.
Annals of Neurology. 2007; 62(1):81-92.
158.
Corti S, Nizzardo M, Nardini M, Donadoni C, Locatelli F, Papadimitriou D, Salani S, Del
Bo R, Ghezzi S, Strazzer S, Bresolin N, Comi GP.
Isolation and characterization of murine neural stem/progenitor cells based on Prominin-1
expression.
Experimental Neurology. 2007;205(2):547-62.
159.
Ghione I, Di Fonzo A, Saladino F, Del Bo R, Bresolin N, Comi GP, Rango M.
Parkin polymorphisms and environmental exposure: Decrease in age at onset of Parkinson's
disease.
Neurotoxicology. 2007 May;28(3):698-701.
160. Musumeci O, Aguennouz M, Comi GP, Rodolico C, Autunno M, Bordoni A, Baratta S,
Taroni F, Vita G, Toscano A.
Identification of the infant-type R631C mutation in patients with the benign muscular form of
CPT2 deficiency.
Neuromuscular Disorders.17: 960-963, 2007
161. Del Bo R, Di Fonzo A, Ghezzi S, Locatelli F, Stevanin G, Costa A, Corti S, Bresolin N, Comi
GP.
SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating
mutation.
Neurogenetics. 2007 Nov;8(4):301-5.
162. Bersano A, Del Bo R, Lamperti C, Ghezzi S, Fagiolari G, Fortunato F, Ballabio E, Moggio M,
Candelise L, Galimberti D, Virgilio R, Lanfranconi S, Torrente Y, Carpo M, Bresolin N,
Comi GP, Corti S.
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation.
Neurobiology of Aging. 2007 Sep 22; [Epub ahead of print]
163. Torrente Y, Belicchi M, Marchesi C, Dantona G, Cogiamanian F, Pisati F, Gavina M,
Giordano R, Tonlorenzi R, Fagiolari G, Lamperti C, Porretti L, Lopa R, Sampaolesi M,
Vicentini L, Grimoldi N, Tiberio F, Songa V, Baratta P, Prelle A, Forzenigo L, Guglieri M,
Pansarasa O, Rinaldi C, Mouly V, Butler-Browne GS, Comi GP, Biondetti P, Moggio M,
Gaini SM, Stocchetti N, Priori A, D'Angelo MG, Turioni A, Bottinelli R, Cossu G, Rebulla P,
Bresolin N.
Autologous transplantation of muscle-derived CD133+ stem cells in Duchenne muscle
patients.
Cell Transplantation. 2007;16(6):563-77.
164. Lucchiari S, Santoro D, Pagliarani S, Comi GP.
Pag. 107 di
Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.
Acta Myologica. 2007 Jul;26(1):72-4.
165. Del Bo R, Scarlato M, Ghezzi S, Martinelli-Boneschi F, Corti S, Locatelli F,Santoro D, Prelle
A, Briani C, Nardini M, Siciliano G, Mancuso M, Murri L, Bresolin N, Comi GP.
Absence of angiogenic genes modification in Italian ALS patients.
Neurobiology of Aging. 2008 Feb;29(2):314-6.
166. Del Bo R, Ghezzi S, Scarlato M, Albani D, Galimberti D, Lucca U, Tettamanti M, Scarpini E,
Forloni G, Bresolin N, Comi GP.
Role of VEGF gene variability in longevity: a lesson from the Italian population.
Neurobiology of Aging. 2008 Dec;29(12):1917-22.
167. Corti S, Bordoni A, Ronchi D, Musumeci O, Aguennouz M, Toscano A, Lamperti C, Bresolin
N, Comi GP.
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II)
deficiency.
Journal of the Neurological Sciences. 2008 Mar 15;266(1-2):97-103.
168. Guglieri M., Magri F., D'Angelo M.G., Prelle A., Morandi L., Rodolico C., Cagliani R., Mora
M., Fortunato F., Bordoni A., Del Bo R., Ghezzi S., Pagliarani S., Lucchiari S., Salani S.,
Zecca C., Lamperti C., Ronchi D., Aguennouz M., Ciscato P., Blasi C.D., Ruggieri A.,
Moroni I., Turconi A., Toscano A., Moggio M., Bresolin N., Comi G.P.
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian
limb girdle muscular dystrophy patients.
Human Mutation 2008 Feb;29(2):258-66
169. Arnoldi A., Tonelli A., Sironi M., Bozzoli U., Villani G., Pacelli C., Meola G., D’Angelo
M.G., Martinuzzi A., Crippa F., Comi G.P., Renieri A., Turioni A., Bresolin N., Bassi M.T.
Clinical, genetic and biochemical studies of SPG7 mutations in a large cohort of patients with
hereditary spastic paraplegia
Human Mutation, 2008 Apr;29(4):522-31
170. Pozzoli U, Menozzi G, Fumagalli M, Cereda M, Comi GP, Cagliani R, Bresolin N, Sironi M.
Both selective and neutral processes drive GC content evolution in the human genome.
BMC Evolutionary Biology, 2008 Mar 27; 8:99.
171. Virgilio R., Ronchi D., Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L,.
Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP.
Novel Twinkle (PEO1) gene mutations in mendelian Progressive External Ophthalmoplegia
Journal of Neurology, 2008 Sep;255(9):1384-91
172. Del Bo R, Ghezzi S, Corti S, Santoro D, Prelle A, Mancuso M, Siciliano G, Briani C, Murri L,
Bresolin N, Comi GP.
DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral
sclerosis in Italian patients.
J Neurol Neurosurg Psychiatry. 2008 Sep;79(9):1085.
173. Borroni B, Ghezzi S, Agosti C, Archetti S, Fenoglio C, Galimberti D, Scarpini E, Di Luca M,
Bresolin N, Comi GP, Padovani A, Del Bo R.
Preliminary evidence that VEGF genetic variability confers susceptibility to frontotemporal
Pag. 108 di
lobar degeneration.
Rejuvenation Res. 2008 Aug;11(4):773-80.
174. Beghi E, Millul A, Logroscino G, Vitelli E, Micheli A; SLALOM GROUP (D. Alimonti, D.
Baldini, C. Balzarini, C. Bendotti, G. Bianchi, G. Bogliun, V. Bonito,Brambilla, L. Brunati, R.
Causarano, M. Ceroni, A. Cheldi, A.Chiò, L. Chiveri, A. Citterio, M. Clerici, G. Comi, M.
Corbo, M.L. Delodovici, E. Donati, C. Ferrarese, G. Filippini, P. Gambaro, L. Giordano, M.
Guidotti, I. La Spina, P. Liberini, G. Mariani,T. Mennini, G. Meola, S. Moroni, E. Munerati,
M. Perini, P. Perrone, M. Poloni, M. Porta, A. Prelle, M. Rezzonico, R. Riva, A. Romorini, F.
Sasanelli, L. Serlenga, V. Silani, D. Testa, F. Tavernelli, M.C. Tonini.
Outcome measures and prognostic indicators in patients with amyotrophic lateral
sclerosis.
Amyotroph Lateral Scler. 2008 Jun;9(3):163-7.
175. Lucchiari S, Pagliarani S, Corti S, Mancinelli E, Servida M, Fruguglietti E, Sansone V,
Moggio M, Bresolin N, Comi GP, Meola G.
Colocalization of ribonuclear inclusions with muscle blind like-proteins in a
family with myotonic dystrophy type 2 associated with a short CCTG expansion.
Journal of the Neurological Sciences. 2008 Dec 15;275(1-2):159-63.
176. Seibel P, Di Nunno C, Kukat C, Schäfer I, Del Bo R, Bordoni A, Comi GP, Schön A,
Capuano F, Latorre D, Villani G.
Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated
T414G variant in human cybrids.
Nucleic Acids Res. 2008 Oct;36(18):5872-81. (6.954)
177. Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Ronchi D, Saladino F, Bordoni A,
Fortunato F, Del Bo R, Papadimitriou D, Locatelli F, Menozzi G, Strazzer S, Bresolin N,
Comi GP.
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal
muscular atrophy.
Journal of Clinical Investigation. 2008 Oct;118(10):3316-30.
178. Cagliani R, Fumagalli M, Riva S, Pozzoli U, Comi GP, Menozzi G, Bresolin N, Sironi M.
The signature of long-standing balancing selection at the human defensin beta-1 promoter.
Genome Biology. 2008; 9(9):R143. (6.59).
179.Del Bo R, Moggio M, Rango M, Bonato S, D'Angelo MG, Ghezzi S, Airoldi G, Bassi MT,
Guglieri M, Napoli L, Lamperti C, Corti S, Federico A, Bresolin N, Comi GP.
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial
dysfunction.
Neurology. 2008 Dec 9;71(24):1959-1966 (6.014)
180. Lambrechts D, Poesen K, Santiago RS, Al-Chalabi A, Del Bo R, Van Vught PWJ, Khan S,
Marklund SL, Brockington A, van Marion I, Anneser J, Shaw C, Ludolph AC, Leigh NP,
Comi GP, Gasser T, Shaw PJ, Morrison KE, Andersen PM, Van den Berg LH, Thijs V,
Siddique T, Robberecht W, Carmeliet P.
Meta-analysis of VEGF variations in ALS: increased susceptibility in male carriers of the –
2578AA genotype
Journal of Medical Genetics, 2009 Dec;46(12):840-6. Epub 2008 Apr 15.
Pag. 109 di
181. Mercuri E., Messina S., Bruno C., Mora M., Pegoraro E., ComiG.P.,. D’Amico A. Aiello C.,
Biancheri R., Berardinelli A., Boito C., Moggio M., Morandi L., Moroni I., Pane M., Pezzani,
R., Pichiecchio A., Pini A.,Mongini T., Ricci E., Ruggieri A., Saredi A., Scuderi C., Tessa A.,
Toscano A., Tortorella G., Trevisan C.P.,Uggetti C., Vasco G., Santorelli F.M., Bertini E.
Genotype-phenotype correlations in congenital muscular dystrophies with defective
glycosylation of dystroglycan: a multicentric Italian study
Neurology. 2009 May 26;72(21):1802-9. Epub 2009 Mar 18. PubMed
182 Del Bo R, Ghezzi S, Corti S, Pandolfo M, Ranieri M, Santoro D, Ghione I, Prelle A, Orsetti
V, Mancuso M, Sorarù G, Briani C, Angelini C, Siciliano G, Bresolin N, Comi GP.
TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS:
identification of two novel mutations.
Eur J Neurol. 2009 Jun;16(6):727-32. Epub 2009 Feb 19. PubMed PMID: 19236453.
183: Virgilio R, Ronchi D, Bordoni A, Fassone E, Bonato S, Donadoni C, Torgano G, Moggio M,
Corti S, Bresolin N, Comi GP.
Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and
pathological study.
J Neurol Sci. 2009 Jun 15;281(1-2):85-92
184. Del Bo R, Ghezzi S, Scarpini E, Bresolin N, Comi GP.
VEGF genetic variability is associated with increased risk of developing Alzheimer's disease.
J Neurol Sci. 2009 Aug 15;283(1-2):66-8.
185: Virgilio R, Corti S, Agazzi P, Santoro D, Lanfranconi S, Candelise L,
Bresolin N, Comi GP, Bersano A.
Effect of steroid treatment in cerebellar ataxia associated with anti-glutamic acid
decarboxylase antibodies.
J Neurol Neurosurg Psychiatry. 2009 Jan;80(1):95-6.
186 Lamperti C, Salani S, Lucchiari S, Bordoni A, Ripolone M, Fagiolari G,Fruguglietti ME
Crugnola V, Colombo C, Cappellini A, Prelle A, Bresolin N, Comi GP, Moggio M.
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of
glycogen storage disease type IV associated with a new mutation in GBE1 gene.
J Inherit Metab Dis. 2009 Apr 8. [Epub ahead of print]
187 Cagliani R, Fumagalli M, Pozzoli U, Riva S, Comi GP, Torri F, Macciardi F,
Bresolin N, Sironi M.
Diverse evolutionary histories for beta-adrenoreceptor
genes in humans.
Am J Hum Genet. 2009 Jul;85(1):64-75. Epub 2009 Jul 2. PubMed
188. Cagliani R, Fumagalli M, Pozzoli U, Riva S, Cereda M, Comi GP, Pattini L,
Bresolin N, Sironi M.
A complex selection signature at the human AVPR1B gene.
BMC
Evol Biol. 2009 Jun 1;9:123.
189. Fumagalli M, Pozzoli U, Cagliani R, Comi GP, Riva S, Clerici M, Bresolin N,
Sironi M.
Parasites represent a major selective force for interleukin genes and shape the genetic
Pag. 110 di
predisposition to autoimmune conditions.
J Exp Med. 2009 Jun 8;206(6):1395-408. Epub 2009 May 25.
190: Bersano A, Del Bo R, Ballabio E, Cinnante C, Lanfranconi S, Comi GP, Baron P,
Bresolin N, Candelise L.
Transthyretin asn90 variant: amyloidogenic or non-amyloidogenic role.
J Neurol Sci. 2009 Sep 15;284(1-2):113-5.
191: Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A,
Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin
N, Ferrero I, Comi GP. The mitochondrial disulfide relay system protein GFER is mutated in
autosomal-recessive myopathy with cataract and
combined respiratory-chain deficiency.
Am J Hum Genet. 2009 May;84(5):594-604.
192: Corti S, Donadoni C, Ronchi D, Bordoni A, Fortunato F, Santoro D, Del Bo R, Lucchini V,
Crugnola V, Papadimitriou D, Salani S, Moggio M, Bresolin N, Comi GP.
Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle
mitochondrial dysfunction.
J Neurol Sci. 2009 Jan 15;276(1-2):170-4. Epub 2008
Nov 8. PubMed PMID:
19000626.
193. Fumagalli M, Cagliani R, Pozzoli U, Riva S, Comi GP, Menozzi G, Bresolin N,
Sironi M.
Widespread balancing selection and pathogen-driven selection at blood group antigen genes.
Genome Res. 2009 Feb;19(2):199-212.
194 Locatelli F, Bersano A, Ballabio E, Lanfranconi S, Papadimitriou D, Strazzer
S, Bresolin N, Comi GP, Corti S. Stem cell therapy in stroke. Cell Mol Life Sci.
2009 Mar;66(5):757-72.
195. Ghezzi S, Del Bo R, Scarlato M, Nardini M, Carlesi C, Prelle A, Corti S,
Mancuso M, Briani C, Siciliano G, Murri L, Bresolin N, Comi GP. Is erythropoietin
gene a modifier factor in amyotrophic lateral sclerosis? Neurobiol Aging. 2009
May;30(5):842-4. Epub 2007 Sep 20. PubMed PMID: 17888545.
196 Bersano A, Del Bo R, Lamperti C, Ghezzi S, Fagiolari G, Fortunato F, Ballabio
E, Moggio M, Candelise L, Galimberti D, Virgilio R, Lanfranconi S, Torrente Y,
Carpo M, Bresolin N, Comi GP, Corti S. Inclusion body myopathy and frontotemporal
dementia caused by a novel VCP mutation. Neurobiol Aging. 2009 May;30(5):752-8.
Epub 2007 Sep 24. PubMed PMID: 17889967.
197 Mazzone ES, Messina S, Vasco G, Main M, Eagle M, D'Amico A, Doglio L, Politano
L, Cavallaro F, Frosini S, Bello L, Magri F, Corlatti A, Zucchini E, Brancalion
B, Rossi F, Ferretti M, Motta MG, Cecio MR, Berardinelli A, Alfieri P, Mongini T,
Pini A, Astrea G, Battini R, Comi G, Pegoraro E, Morandi L, Pane M, Angelini C,
Bruno C, Villanova M, Vita G, Donati MA, Bertini E, Mercuri E. Reliability of the
North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord.
2009 Jul;19(7):458-61. Epub 2009 Jun 23. PubMed PMID: 19553120.
198 Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Del Bo R, Papadimitriou
D, Locatelli F, Mezzina N, Gianni F, Bresolin N, Comi GP. Motoneuron
Pag. 111 di
transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with
respiratory distress type 1). J Neurosci. 2009 Sep 23;29(38):11761-71.
199. Lambrechts D, Poesen K, Fernández-Santiago R, Al-Chalabi A, Del Bo R, Van Vught PW,
Khan S, Marklund SL, Brockington A, van Marion I, Anneser J, Shaw C, Ludolph AC, Leigh
NP, Comi GP, Gasser T, Shaw PJ, Morrison KE, Andersen PM, Van den Berg LH, Thijs V,
Siddique T, Robberecht W, Carmeliet P.
Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis:
increased susceptibility in male carriers of the -2578AA genotype.
J Med Genet. 2009 Dec;46(12):840-6.
200. Flanigan KM, Dunn DM, von Niederhausern A, Howard MT, Mendell J, Connolly A,
Saunders C, Modrcin A, Dasouki M, Comi GP, Del Bo R, Pickart A, Jacobson R,
Finkel R, Medne L, Weiss RB. DMD Trp3X nonsense mutation associated with a
founder effect in North American families with mild Becker muscular dystrophy.
Neuromuscul Disord. 2009 Nov;19(11):743-8.
201. Demir E, Gucuyener K, Akturk A, Talim B, Konus O, Del Bo R, Ghezzi S, Comi GP.
An unusual presentation of Muscle-Eye-Brain disease: Severe eye abnormalities
with mild muscle and brain involvement. Neuromuscul Disord. 2009 Oct;19(10):692-5. Epub
2009 Aug 12.
202. Fumagalli M, Cagliani R, Pozzoli U, Riva S, Comi GP, Menozzi G, Bresolin N,
Sironi M. A population genetics study of the Familial Mediterranean Fever gene:
evidence of balancing selection under an overdominance regime.
Genes Immun. 2009 Dec;10(8):678-86. Epub 2009 Aug 13.
203. Fagiolari G, Cappellini A, Cagliani R, Prelle A, Lucchini V, Fortunato F,Locatelli F,
Crugnola V, Comi GP, Bresolin N, Moggio M, Lamperti C. Muscular
Dystrophy: Central Nervous System {alpha}-Dystroglycan Glycosylation Defects and Brain
Malformation. J Child Neurol. 2010 Mar;25(3):312-20. Epub 2009 Jul 25.
204 Del Bo R, Corti S, Santoro D, Ghione I, Fenoglio C, Ghezzi S, Ranieri M, Galimberti D,
Mancuso M, Siciliano G, Briani C, Murri L, Scarpini E, Schymick JC, Traynor BJ, Bresolin
N, Comi GP.
No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS
Italian cohort.
Neurobiol Aging. 2011 Jun;32(6):1157-8.
205. Cagliani R, Fumagalli M, Riva S, Pozzoli U, Fracassetti M, Bresolin N, Comi GP, Sironi M.
Polymorphisms in the CPB2 gene are maintained by balancing selection and result in
haplotype-preferential splicing of exon 7.
Mol Biol Evol. 2010 Aug;27(8):1945-54. Epub 2010 Mar 17. PubMed PMID: 20237223.
206. Crugnola V, Lamperti C, Lucchini V, Ronchi D, Peverelli L, Prelle A, Sciacco M, Bordoni A,
Fassone E, Fortunato F, Corti S, Silani V, Bresolin N, Di Mauro S, Comi GP, Moggio M.
Mitochondrial respiratory chain dysfunction in muscle from patients with Amyotrophic
Lateral Sclerosis. Arch Neurol. 2010 Jul;67(7):849-54.
207 Ronchi D, Virgilio R, Bordoni A, Fassone E, Sciacco M, Ciscato P, Moggio M, Govoni A,
Pag. 112 di
Corti S, Bresolin N, Comi GP.
The m.12316G>A mutation in the mitochondrial tRNA(Leu(CUN)) gene is associated with
mitochondrial myopathy and respiratory impairment.
J Neurol Sci. 2010 May 15;292(1-2):107-10.
208 Corrado L, Del Bo R, Castellotti B, Ratti A, Cereda C, Penco S, Sorarù G, Carlomagno Y,
Ghezzi S, Pensato V, Colombrita C, Gagliardi S, Cozzi L, Orsetti V, Mancuso M, Siciliano
G, Mazzini L, Comi GP, Gellera C, Ceroni M, D'Alfonso S, Silani V.
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.
J Med Genet. 2010 Mar;47(3):190-4.
209 Coppedè F, Migheli F, Lo Gerfo A, Fabbrizi MR, Carlesi C, Mancuso M, Corti S, Mezzina
N, Del Bo R, Comi GP, Siciliano G, Migliore L. Association study between XRCC1 gene
polymorphisms and sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler.
2010;11(1-2):122-4.
210
Borroni B, Del Bo R, Goldwurm S, Archetti S, Bonvicini C, Agosti C, Bigni B, Papetti A,
Ghezzi S, Sacilotto G, Pezzoli G, Gennarelli M, Bresolin N, Comi GP, Padovani A. VEGF
haplotypes are associated with increased risk to progressive supranuclear palsy and
corticobasal syndrome. J Alzheimers Dis. 2010 Jan;21(1):87-94.
211
Borroni B, Archetti S, Del Bo R, Papetti A, Buratti E, Bonvicini C, Agosti C, Cosseddu M,
Turla M, Di Lorenzo D, Comi GP, Gennarelli M, Padovani A. TARDBP Mutations in
Frontotemporal Lobar Degeneration: Frequency, Clinical Features, and Disease Course.
Rejuvenation Res. 2010 Oct;13(5):509-17.
212
Lo Mauro A, D'Angelo MG, Romei M, Motta F, Colombo D, Comi GP, Pedotti A, Marchi E,
Turconi AC, Bresolin N, Aliverti A. Abdominal volume contribution to tidal volume as an
early indicator of respiratory impairment in Duchenne muscular dystrophy. Eur Respir J.
2010 May;35(5):1118-25. Epub 2009 Oct 19. PubMed PMID: 19840972.
213
Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Ronchi D, Simone C, Falcone M,
Papadimitriou D, Locatelli F, Mezzina N, Gianni F, Bresolin N, Comi GP. Embryonic stem
cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice. Brain.
2010 Feb;133(Pt 2):465-81. Epub 2009 Dec 23. PubMed PMID: 20032086.
214
Cagliani R, Fumagalli M, Riva S, Pozzoli U, Comi GP, Bresolin N, Sironi M. Genetic
variability in the ACE gene region surrounding the Alu I/D polymorphism is maintained by
balancing selection in human populations. Pharmacogenet Genomics. 2010 Feb;20(2):131-4.
PubMed PMID: 20038859.
215
Pozzoli U, Fumagalli M, Cagliani R, Comi GP, Bresolin N, Clerici M, Sironi M. The role of
protozoa-driven selection in shaping human genetic variability. Trends Genet. 2010
Mar;26(3):95-9. Epub 2010 Jan 25. PubMed PMID: 20097439.
216
Fumagalli M, Pozzoli U, Cagliani R, Comi GP, Bresolin N, Clerici M, Sironi M. Genomewide identification of susceptibility alleles for viral infections through a population genetics
approach. PLoS Genet. 2010 Feb 19;6(2):e1000849. PubMed PMID: 20174570; PubMed
Central PMCID: PMC2824813.
Pag. 113 di
217
Fumagalli M, Cagliani R, Riva S, Pozzoli U, Biasin M, Piacentini L, Comi GP, Bresolin N,
Clerici M, Sironi M. Population genetics of IFIH1: ancient population structure, local
selection, and implications for susceptibility to type 1 diabetes. Mol Biol Evol. 2010
Nov;27(11):2555-66. Epub 2010 Jun 10. PubMed PMID: 20538742.
218
Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Simone C, Falcone M, Riboldi G,
Govoni A, Bresolin N, Comi GP. Systemic transplantation of c-kit+ cells exerts a therapeutic
effect in a model of amyotrophic lateral sclerosis. Hum Mol Genet. 2010 Oct 1;19(19):378296. Epub 2010 Jul 22. PubMed PMID: 20650960.
219
Nizzardo M, Simone C, Falcone M, Locatelli F, Riboldi G, Comi GP, Corti S. Human motor
neuron generation from embryonic stem cells and induced pluripotent stem cells. Cell Mol
Life Sci. 2010 Nov;67(22):3837-47. Epub 2010 Jul 29. Review. PubMed PMID: 20668908
220
Fumagalli M, Pozzoli U, Cagliani R, Comi GP, Bresolin N, Clerici M, Sironi M. The
landscape of human genes involved in the immune response to parasitic worms. BMC Evol
Biol. 2010 Aug 31;10:264. PubMed PMID: 20807397; PubMed Central PMCID:
PMC2940816.
221
Messina S, Bruno C, Moroni I, Pegoraro E, D'Amico A, Biancheri R, Berardinelli A, Boffi P,
Cassandrini D, Farina L, Minetti C, Moggio M, Mongini T, Mottarelli E, Pane M, Pantaleoni
C, Pichiecchio A, Pini A, Ricci E, Saredi S, Sframeli M, Tortorella G, Toscano A, Trevisan
CP, Uggetti C, Vasco G, Comi GP, Santorelli FM, Bertini E, Mercuri E. Congenital muscular
dystrophies with cognitive impairment. A population study. Neurology. 2010 Sep
7;75(10):898-903. PubMed PMID: 20820001.
222
Borroni B, Grassi M, Archetti S, Papetti A, Del Bo R, Bonvicini C, Comi GP,Gennarelli M,
Bellelli G, Di Luca M, Padovani A. Genetic background predicts poor prognosis in
frontotemporal lobar degeneration. Neurodegener Dis. 2011;8(5):289-95.
223
Orcesi S, La Piana R, Uggetti C, Tonduti D, Pichiecchio A, Pasin M, Viselner G, Comi GP,
Del Bo R, Ronchi D, Bastianello S, Balottin U. Spinal cord calcification in an early-onset
progressive leukoencephalopathy. J Child Neurol. 2011 Jul;26(7):876-80.
224
Pacelli C, De Rasmo D, Signorile A, Grattagliano I, di Tullio G, D'Orazio A, Nico B, Comi
GP, Ronchi D, Ferranini E, Pirolo D, Seibel P, Schubert S, Gaballo A, Villani G, Cocco T.
Mitochondrial defect and PGC-1α dysfunction in parkin-associated familial Parkinson's
disease. Biochim Biophys Acta. 2011 Aug;1812(8):1041-53.
225
Del Bo R, Tiloca C, Pensato V, Corrado L, Ratti A, Ticozzi N, Corti S,Castellotti B, Mazzini
L, Sorarù G, Cereda C, D'Alfonso S, Gellera C, Comi GP, Silani V; The SLAGEN
Consortium. Novel optineurin mutations in patients with familial and sporadic amyotrophic
lateral sclerosis. J Neurol Neurosurg Psychiatry. J Neurol Neurosurg Psychiatry. 2011
Nov;82(11):1239-43.
226
Orcesi S, La Piana R, Comi G. Response to correspondence on "spinal cord calcification in
an early-onset progressive leukoencephalopathy". J Child Neurol. 2011 Aug;26(8):1058
227
Lanfranconi S, Locatelli F, Corti S, Candelise L, Comi GP, Baron PL, Strazzer S, Bresolin N,
Bersano A. Growth factors in ischemic stroke. J Cell Mol Med. 2011 Aug;15(8):1645-87
Pag. 114 di
228
Cagliani R, Fruguglietti ME, Berardinelli A, D'Angelo MG, Prelle A, Riva S, Napoli L,
Gorni K, Orcesi S, Lamperti C, Pichiecchio A, Signaroldi E, Tupler R, Magri F, Govoni A,
Corti S, Bresolin N, Moggio M, Comi GP. New molecular findings in congenital myopathies
due to selenoprotein N gene mutations. J Neurol Sci. 2011 Jan 15;300(1-2):107-113.
229
Nizzardo M, Nardini M, Ronchi D, Salani S, Donadoni C, Fortunato F, Colciago G, Falcone
M, Simone C, Riboldi G, Govoni A, Bresolin N, Comi GP, Corti S. Beta-lactam antibiotic
offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms. Exp
Neurol. 2011 Jun;229(2):214-25.
230
Magri F, Del Bo R, D'Angelo MG, Govoni A, Ghezzi S, Gandossini S, Sciacco M, Ciscato
P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Cereda M, Corti S, Moggio M, Bresolin
N, Comi GP. Clinical and molecular characterization of a cohort of patients with novel
nucleotide alterations of the Dystrophin gene detected by direct sequencing. BMC Med
Genet. 2011 Mar 11;12:37
231
Magri F, Govoni A, D'Angelo MG, Del Bo R, Ghezzi S, Sandra G, Turconi AC, Sciacco M,
Ciscato P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Bonato S, Lamperti C, Coviello
D, Torrente Y, Corti S, Moggio M, Bresolin N, Comi GP.
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended
follow-up. J Neurol. 2011 Sep;258(9):1610-23
233
Riboldi G, Del Bo R, Ranieri M, Magri F, Sciacco M, Moggio M, Bresolin N,Corti S, Comi
GP. Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial
Presentation. Case Rep Neurol. 2011 Feb 23;3(1):62-8.
234
D'Angelo MG, Romei M, Lo Mauro A, Marchi E, Gandossini S, Bonato S, Comi GP, Magri
F, Turconi AC, Pedotti A, Bresolin N, Aliverti A. Respiratory pattern in an adult population
of dystrophic patients. J Neurol Sci. 2011 Jul 15;306(1-2):54-61.
235.
Cagliani R, Riva S, Pozzoli U, Fumagalli M, Comi GP, Bresolin N, Clerici M, Sironi M.
Balancing selection is common in the extended MHC region but most alleles with opposite
risk profile for autoimmune diseases are neutrally evolving. BMC Evol Biol. 2011 Jun
17;11:171.
236.
Ronchi D, Fassone E, Bordoni A, Sciacco M, Lucchini V, Di Fonzo A, Rizzuti M, Colombo
I, Napoli L, Ciscato P, Moggio M, Cosi A, Collotta M, Corti S, Bresolin N, Comi GP. Two
novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia.
J Neurol Sci. 2011 Sep 15;308(1-2):173-6
238.
Ronchi D, Cosi A, Tonduti D, Orcesi S, Bordoni A, Fortunato F, Rizzuti M, Sciacco M,
Collotta M, Cagdas S, Capovilla G, Moggio M, Berardinelli A, Veggiotti P, Comi GP.
Clinical and molecular features of an infant patient affected by Leigh Disease associated to
m.14459G > A mitochondrial DNA mutation: a case report. BMC Neurol. 2011 Jul
12;11:85.
239.
Riboldi G, Nizzardo M, Simone C, Falcone M, Bresolin N, Comi GP, Corti S.
ALS genetic modifiers that increase survival of SOD1 mice and are suitable for herapeutic
development. Prog Neurobiol. 2011 Oct;95(2):133-48
Pag. 115 di
243.
D'Angelo MG, Lorusso ML, Civati F, Comi GP, Magri F, Del Bo R, Guglieri M, Molteni
M, Turconi AC, Bresolin N. Neurocognitive profiles in duchenne muscular dystrophy and
gene mutation site. Pediatr Neurol. 2011 Nov;45(5):292-9. PubMed PMID: 22000308;
PubMed Central PMCID: PMC3200430.
244.
Ronchi D, Bordoni A, Cosi A, Rizzuti M, Fassone E, Di Fonzo A, Servida M, Sciacco M,
Collotta M, Ronzoni M, Lucchini V, Mattioli M, Moggio M, Bresolin N, Corti S, Comi GP.
Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C
mutation. Biochem Biophys Res Commun. 2011 Aug 26;412(2):245-8. Epub 2011 Jul 27.
PubMed PMID: 2181997
245.
Pane M, Messina S, Vasco G, Foley AR, Morandi L, Pegoraro E, Mongini T, D'Amico A,
Bianco F, Lombardo ME, Scalise R, Bruno C, Berardinelli A, Pini A, Moroni I, Mora M,
Toscano A, Moggio M, Comi G, Santorelli FM, Bertini E, Muntoni F, Mercuri E.
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan
deficiency. Neuromuscul Disord. 2012 Aug;22(8):685-9.
246.
Mazzone E, Vasco G, Sormani MP, Torrente Y, Berardinelli A, Messina S, D'Amico A,
Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Bonfiglio S, Zucchini E, De Sanctis
R, Scutifero M, Bianco F, Rossi F, Motta MC, Sacco A, Donati MA, Mongini T, Pini A,
Battini R, Pegoraro E, Pane M, Gasperini S, Previtali S, Napolitano S, Martinelli D, Bruno
C, Vita G, Comi G, Bertini E, Mercuri E. Functional changes in Duchenne muscular
dystrophy: a 12-month longitudinal color study. Neurology. 2011 Jul 19;77(3):250-6. doi:
10.1212/WNL.0b013e318225ab2e. Epub 2011 Jul 6. PubMed PMID: 21734183.
247.
Lerario A, Bonfiglio S, Sormani M, Tettamanti A, Marktel S, Napolitano S, Previtali S,
Scarlato M, Natali-Sora M, Mercuri E, Bresolin N, Mongini T, Comi G, Gatti R, Ciceri F,
Cossu G, Torrente Y. Quantitative muscle strength assessment in duchenne muscular
dystrophy: longitudinal study and correlation with functional measures. BMC Neurol. 2012
Sep 13;12:91. doi: 10.1186/1471-2377-12-91.
248.
Mancuso M, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T,
Servidei S, Tonin P, Toscano A, Uziel G, Zeviani M, Siciliano G; Nation-wide Italian
Collaborative Network of Mitochondrial Diseases. Fatigue and exercise intolerance in
mitochondrial diseases. Literature revision and experience of the Italian Network of
mitochondrial diseases. Neuromuscul Disord.
2012 Dec;22 Suppl 3:S226-9. doi:
10.1016/j.nmd.2012.10.012. Review. PubMed PMID: 23182644; PubMed Central PMCID:
PMC3526786.
249.
Corti S, Nizzardo M, Simone C, Falcone M, Nardini M, Ronchi D, Donadoni C, Salani S,
Riboldi G, Magri F, Menozzi G, Bonaglia C, Rizzo F, Bresolin N, Comi GP. Genetic
correction of human induced pluripotent stem cells from patients with spinal muscular
atrophy.
Sci
Transl
Med.
2012
Dec
19;4(165):165ra162.
doi:
10.1126/scitranslmed.3004108. PubMed PMID: 23253609.
250.
Gellera C, Tiloca C, Del Bo R, Corrado L, Pensato V, Agostini J, Cereda C, Ratti A,
Castellotti B, Corti S, Bagarotti A, Cagnin A, Milani P, Gabelli C, Riboldi G, Mazzini L,
Sorarù G, D'Alfonso S, Taroni F, Comi GP, Ticozzi N, Silani V; SLAGEN Consortium.
Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and
frontotemporal dementia. J Neurol Neurosurg Psychiatry. 2013 Feb;84(2):183-7. doi:
Pag. 116 di
10.1136/jnnp-2012-303433. Epub 2012 Nov 8. PubMed PMID: 23138764.
251.
Tiloca C, Ticozzi N, Pensato V, Corrado L, Del Bo R, Bertolin C, Fenoglio C, Gagliardi S,
Calini D, Lauria G, Castellotti B, Bagarotti A, Corti S, Galimberti D, Cagnin A, Gabelli C,
Ranieri M, Ceroni M, Siciliano G, Mazzini L, Cereda C, Scarpini E, Sorarù G, Comi GP,
D'Alfonso S, Gellera C, Ratti A, Landers JE, Silani V; SLAGEN Consortium. Screening of
the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia.
Neurobiol Aging. 2013 May;34(5):1517.e9-10. doi: 10.1016/j.neurobiolaging.2012.09.016.
Epub 2012 Oct 11. PubMed PMID: 23063648; PubMed Central PMCID: PMC3548975.
252.
Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M,
Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S,
Comi GP, Sciacco M. Next-generation sequencing reveals DGUOK mutations in adult
patients with mitochondrial DNA multiple deletions. Brain. 2012 Nov;135(Pt 11):3404-15.
doi: 10.1093/brain/aws258. Epub 2012 Oct 4. PubMed PMID: 23043144; PubMed Central
PMCID: PMC3501975.
253.
Protti A, Lecchi A, Fortunato F, Artoni A, Greppi N, Vecchio S, Fagiolari G, Moggio M,
Comi GP, Mistraletti G, Lanticina B, Faraldi L, Gattinoni L. Metformin overdose causes
platelet mitochondrial dysfunction in humans. Crit Care. 2012 Oct 3;16(5):R180. [Epub
ahead of print] PubMed PMID: 23034133; PubMed Central PMCID: PMC3682281.
254.
Valenza F, Pizzocri M, Salice V, Chevallard G, Fossali T, Coppola S, Froio S, Polli F, Gatti
S, Fortunato F, Comi GP, Gattinoni L. Sodium bicarbonate treatment during transient or
sustained lactic acidemia in normoxic and normotensive rats. PLoS One. 2012;7(9):e46035.
doi: 10.1371/journal.pone.0046035. Epub 2012 Sep 28. PubMed PMID: 23029373;
PubMed Central PMCID: PMC3461035.
255.
Ratti A, Corrado L, Castellotti B, Del Bo R, Fogh I, Cereda C, Tiloca C, D'Ascenzo C,
Bagarotti A, Pensato V, Ranieri M, Gagliardi S, Calini D, Mazzini L, Taroni F, Corti S,
Ceroni M, Oggioni GD, Lin K, Powell JF, Sorarù G, Ticozzi N, Comi GP, D'Alfonso S,
Gellera C, Silani V; SLAGEN Consortium. C9ORF72 repeat expansion in a large Italian
ALS cohort: evidence of a founder effect. Neurobiol Aging. 2012 Oct;33(10):2528.e7-14.
doi: 10.1016/j.neurobiolaging.2012.06.008. Epub 2012 Jul 4. PubMed PMID: 22766072.
256.
Remiche G, Herbaut AG, Ronchi D, Lamperti C, Magri F, Moggio M, Bresolin N, Comi
GP. Incontinence in late-onset Pompe disease: an underdiagnosed treatable condition. Eur
Neurol. 2012;68(2):75-8. Epub 2012 Jun 29. PubMed PMID: 22760201.
257.
Bello L, Piva L, Barp A, Taglia A, Picillo E, Vasco G, Pane M, Previtali SC, Torrente Y,
Gazzerro E, Motta MC, Grieco GS, Napolitano S, Magri F, D'Amico A, Astrea G, Messina
S, Sframeli M, Vita GL, Boffi P, Mongini T, Ferlini A, Gualandi F, Soraru' G, Ermani M,
Vita G, Battini R, Bertini E, Comi GP, Berardinelli A, Minetti C, Bruno C, Mercuri E,
Politano L, Angelini C, Hoffman EP, Pegoraro E. Importance of SPP1 genotype as a
covariate in clinical trials in Duchenne muscular dystrophy. Neurology. 2012 Jul
10;79(2):159-62. doi: 10.1212/WNL.0b013e31825f04ea. Epub 2012 Jun 27. PubMed
PMID: 22744661; PubMed Central PMCID: PMC3390537.
258.
Magri F, Del Bo R, D'Angelo MG, Sciacco M, Gandossini S, Govoni A, Napoli L, Ciscato
P, Fortunato F, Brighina E, Bonato S, Bordoni A, Lucchini V, Corti S, Moggio M, Bresolin
N, Comi GP. Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian
Pag. 117 di
limb-girdle muscular dystrophy patients. Neuromuscul Disord. 2012 Nov;22(11):934-43.
doi: 10.1016/j.nmd.2012.05.001. Epub 2012 Jun 27. PubMed PMID: 22742934; PubMed
Central PMCID: PMC3500692.
259.
Angelini C, Semplicini C, Ravaglia S, Moggio M, Comi GP, Musumeci O, Pegoraro E,
Tonin P, Filosto M, Servidei S, Morandi L, Crescimanno G, Marrosu G, Siciliano G,
Mongini T, Toscano A; Italian Group on GSDII. New motor outcome function measures in
evaluation of late-onset Pompe disease before and after enzyme replacement therapy.
Muscle Nerve. 2012 Jun;45(6):831-4. doi: 10.1002/mus.23340. PubMed PMID: 22581536.
260.
Protti A, Fortunato F, Monti M, Vecchio S, Gatti S, Comi GP, De Giuseppe R, Gattinoni L.
Metformin overdose, but not lactic acidosis per se, inhibits oxygen consumption in pigs.
Crit Care. 2012 May 8;16(3):R75. [Epub ahead of print] PubMed PMID: 22568883;
PubMed Central PMCID: PMC3580617.
261.
Fumagalli M, Fracassetti M, Cagliani R, Forni D, Pozzoli U, Comi GP, Marini F, Bresolin
N, Clerici M, Sironi M. An evolutionary history of the selectin gene cluster in humans.
Heredity (Edinb). 2012 Aug;109(2):117-26. doi: 10.1038/hdy.2012.20. Epub 2012 May 2.
PubMed PMID: 22549518; PubMed Central PMCID: PMC3400748.
262.
Ulzi G, Lecchi M, Sansone V, Redaelli E, Corti E, Saccomanno D, Pagliarani S, Corti S,
Magri F, Raimondi M, D'Angelo G, Modoni A, Bresolin N, Meola G, Wanke E, Comi GP,
Lucchiari S. Myotonia congenita: novel mutations in CLCN1 gene and functional
characterizations in Italian patients. J Neurol Sci. 2012 Jul 15;318(1-2):65-71. doi:
10.1016/j.jns.2012.03.024. Epub 2012 Apr 21. PubMed PMID: 22521272.
263.
Corti S, Nizzardo M, Simone C, Falcone M, Donadoni C, Salani S, Rizzo F, Nardini M,
Riboldi G, Magri F, Zanetta C, Faravelli I, Bresolin N, Comi GP. Direct reprogramming of
human astrocytes into neural stem cells and neurons. Exp Cell Res. 2012 Aug
1;318(13):1528-41. doi: 10.1016/j.yexcr.2012.02.040. Epub 2012 Mar 8. PubMed PMID:
22426197; PubMed Central PMCID: PMC3405531.
264.
Cagliani R, Guerini FR, Fumagalli M, Riva S, Agliardi C, Galimberti D, Pozzoli U, Goris
A, Dubois B, Fenoglio C, Forni D, Sanna S, Zara I, Pitzalis M, Zoledziewska M, Cucca F,
Marini F, Comi GP, Scarpini E, Bresolin N, Clerici M, Sironi M. A trans-specific
polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may
confer susceptibility to multiple sclerosis. Mol Biol Evol. 2012 Jun;29(6):1599-613. doi:
10.1093/molbev/mss002. Epub 2012 Jan 6. PubMed PMID: 22319148
265.
D'Angelo MG, Gandossini S, Martinelli Boneschi F, Sciorati C, Bonato S, Brighina E, Comi
GP, Turconi AC, Magri F, Stefanoni G, Brunelli S, Bresolin N, Cattaneo D, Clementi E.
Nitric oxide donor and non steroidal anti inflammatory drugs as a therapy for muscular
dystrophies: evidence from a safety study with pilot efficacy measures in adult dystrophic
patients. Pharmacol Res. 2012 Apr;65(4):472-9. doi: 10.1016/j.phrs.2012.01.006. Epub
2012 Jan 25. PubMed PMID: 22306844.
266.
Guerini FR, Cagliani R, Forni D, Agliardi C, Caputo D, Cassinotti A, Galimberti D,
Fenoglio C, Biasin M, Asselta R, Scarpini E, Comi GP, Bresolin N, Clerici M, Sironi M. A
functional variant in ERAP1 predisposes to multiple sclerosis. PLoS One.
2012;7(1):e29931. doi: 10.1371/journal.pone.0029931. Epub 2012 Jan 12. PubMed PMID:
22253828; PubMed Central PMCID: PMC3257233.
Pag. 118 di
267.
Ranieri M, Del Bo R, Bordoni A, Ronchi D, Colombo I, Riboldi G, Cosi A, Servida M,
Magri F, Moggio M, Bresolin N, Comi GP, Corti S. Optic atrophy plus phenotype due to
mutations in the OPA1 gene: two more Italian families. J Neurol Sci. 2012 Apr 15;315(12):146-9. doi: 10.1016/j.jns.2011.12.002. Epub 2011 Dec 22. PubMed PMID: 22197506;
PubMed Central PMCID: PMC3315002.
268.
Cagliani R, Riva S, Marino C, Fumagalli M, D'Angelo MG, Riva V, Comi GP, Pozzoli U,
Forni D, Cáceres M, Bresolin N, Clerici M, Sironi M. Variants in SNAP25 are targets of
natural selection and influence verbal performances in women. Cell Mol Life Sci. 2012
May;69(10):1705-15. doi: 10.1007/s00018-011-0896-y. Epub 2011 Dec 23. PubMed PMID:
22193912.
269.
Ronchi D, Sciacco M, Bordoni A, Raimondi M, Ripolone M, Fassone E, Di Fonzo A,
Rizzuti M, Ciscato P, Cosi A, Servida M, Moggio M, Corti S, Bresolin N, Comi GP. The
novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and
respiratory impairment. Eur J Hum Genet. 2012 Mar;20(3):357-60. doi:
10.1038/ejhg.2011.238. Epub 2011 Dec 21. PubMed PMID: 22189266; PubMed Central
PMCID: PMC3283170.
270.
Tiloca C, Ratti A, Pensato V, Castucci A, Sorarù G, Del Bo R, Corrado L, Cereda C,
D'Ascenzo C, Comi GP, Mazzini L, Castellotti B, Ticozzi N, Gellera C, Silani V; SLAGEN
Consortium. Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.
Neurobiol Aging. 2012 Mar;33(3):630.e1-2. doi: 10.1016/j.neurobiolaging.2011.10.025.
Epub 2011 Dec 3. PubMed PMID: 22137929.
271.
Salani S, Donadoni C, Rizzo F, Bresolin N, Comi GP, Corti S. Generation of skeletal
muscle cells from embryonic and induced pluripotent stem cells as an in vitro model and for
therapy of muscular dystrophies. J Cell Mol Med. 2012 Jul;16(7):1353-64. doi:
10.1111/j.1582-4934.2011.01498.x. Review. PubMed PMID: 22129481.
272.
Nizzardo M, Simone C, Falcone M, Riboldi G, Rizzo F, Magri F, Bresolin N, Comi GP,
Corti S. Research advances in gene therapy approaches for the treatment of amyotrophic
lateral sclerosis. Cell Mol Life Sci. 2012 May;69(10):1641-50. doi: 10.1007/s00018-0110881-5. Epub 2011 Nov 18. Review. PubMed PMID: 22094924.
273.
Mili A, Ben Charfeddine I, Mamaï O, Abdelhak S, Adala L, Amara A, Pagliarani S,
Lucchiarri S, Ayadi A, Tebib N, Harbi A, Bouguila J, H'Mida D, Saad A, Limem K, Comi
GP, Gribaa M. Molecular and biochemical characterization of Tunisian patients with
glycogen storage disease type III. J Hum Genet. 2012 Mar;57(3):170-5. doi:
10.1038/jhg.2011.122. Epub 2011 Nov 17. Erratum in: J Hum Genet. 2012 Mar;57(3):221.
Lucchiari, Sabrina [corrected to Lucchiarri, Sabrina]; Cherif, Wafa [removed];Abdelhak,
Sonia [added]. PubMed PMID: 22089644.
274.
Romei M, D'Angelo MG, LoMauro A, Gandossini S, Bonato S, Brighina E, Marchi E, Comi
GP, Turconi AC, Pedotti A, Bresolin N, Aliverti A. Low abdominal contribution to
breathing as daytime predictor of nocturnal desaturation in adolescents and young adults
with Duchenne Muscular Dystrophy. Respir Med. 2012 Feb;106(2):276-83. doi:
10.1016/j.rmed.2011.10.010. Epub 2011 Nov 13. PubMed PMID: 22083092.
275.
Cagliani R, Fumagalli M, Guerini FR, Riva S, Galimberti D, Comi GP, Agliardi C, Scarpini
Pag. 119 di
E, Pozzoli U, Forni D, Caputo D, Asselta R, Biasin M, Paraboschi EM, Bresolin N, Clerici
M, Sironi M. Identification of a new susceptibility variant for multiple sclerosis in OAS1 by
population genetics analysis. Hum Genet. 2012 Jan;131(1):87-97. doi: 10.1007/s00439-0111053-2. Epub 2011 Jul 7. PubMed PMID: 21735172.
276.
Sagnelli A, Savoiardo M, Marchesi C, Morandi L, Mora M, Morbin M, Farina L, Mazzeo A,
Toscano A, Pagliarani S, Lucchiari S, Comi GP, Salsano E, Pareyson D. Adult polyglucosan
body disease in a patient originally diagnosed with Fabry's disease. Neuromuscul Disord.
2014 Mar;24(3):272-6. doi: 10.1016/j.nmd.2013.11.006. Epub 2013 Nov 19. PubMed
PMID: 24380807.
277.
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati A, Minetti C,
Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco EC,
Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D,
Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M,
Siciliano G. The m.3243A>G mitochondrial DNA mutation and related phenotypes. A
matter of gender? J Neurol. 2014 Mar;261(3):504-10. doi: 10.1007/s00415-013-7225-3.
Epub 2013 Dec 29. PubMed PMID: 24375076.
278.
Zanetta C, Nizzardo M, Simone C, Monguzzi E, Bresolin N, Comi GP, Corti S. Molecular
therapeutic strategies for spinal muscular atrophies: current and future clinical trials. Clin
Ther. 2014 Jan 1;36(1):128-40. doi: 10.1016/j.clinthera.2013.11.006. Epub 2013 Dec 17.
PubMed PMID: 24360800.
279.
Lucchiari S, Ulzi G, Magri F, Bucchia M, Corbetta F, Servida M, Moggio M, Comi GP,
Lecchi M. Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient.
J Physiol Pharmacol. 2013 Oct;64(5):669-78. PubMed PMID: 24304580
280.
Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Sorarù G, Cereda C,
Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, Gagliardi S, Del Bo R,
Conforti FL, Siciliano G, Inghilleri M, Saccà F, Bongioanni P, Penco S, Corbo M, Sorbi S,
Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A, Jones A, Shaw PJ, Morrison
KE, Farmer AE, Van Damme P, Robberecht W, Chiò A, Traynor BJ, Sendtner M, Melki J,
Meininger V, Hardiman O, Andersen PM, Leigh NP, Glass JD, Overste D, Diekstra FP,
Veldink JH, van Es MA, Shaw CE, Weale ME, Lewis CM, Williams J, Brown RH, Landers
JE, Ticozzi N, Ceroni M, Pegoraro E, Comi GP, D'Alfonso S, van den Berg LH, Taroni F,
Al-Chalabi A, Powell J, Silani V; SLAGEN Consortium and Collaborators; ITALSGEN
Consortium. A genome-wide association meta-analysis identifies a novel locus at 17q11.2
associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet. 2014 Apr
15;23(8):2220-31. doi: 10.1093/hmg/ddt587. Epub 2013 Nov 20. PubMed PMID:
24256812; PubMed Central PMCID: PMC3959809.
281.
Ruggieri M, Riboldi G, Brajkovic S, Bucchia M, Bresolin N, Comi GP, Corti S. Induced
neural stem cells: methods of reprogramming and potential therapeutic applications. Prog
Neurobiol. 2014 Mar;114:15-24. doi: 10.1016/j.pneurobio.2013.11.001. Epub 2013 Nov 15.
Review. PubMed PMID: 24246715.
282.
Mazzone ES, Pane M, Sormani MP, Scalise R, Berardinelli A, Messina S, Torrente Y,
D'Amico A, Doglio L, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L,
Bonfiglio S, De Sanctis R, Rolle E, Bianco F, Magri F, Rossi F, Vasco G, Vita G, Motta
MC, Donati MA, Sacchini M, Mongini T, Pini A, Battini R, Pegoraro E, Previtali S,
Pag. 120 di
Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E. Correction: 24 Month
Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy. PLoS One. 2013
Nov
11;8(11).
doi:
10.1371/annotation/cbe611fe-cda9-4d98-9574-0ac18e109daa.
eCollection 2013. PubMed PMID: 24244257; PubMed Central PMCID: PMC3824002.
283.
Brajkovic S, Riboldi G, Govoni A, Corti S, Bresolin N, Comi GP. Growing Evidence about
the Relationship between Vessel Dissection and Scuba Diving. Case Rep Neurol. 2013 Sep
12;5(3):155-61. doi: 10.1159/000354979. eCollection 2013. PubMed PMID: 24163671;
PubMed Central PMCID: PMC3806682.
284.
Remiche G, Ronchi D, Magri F, Lamperti C, Bordoni A, Moggio M, Bresolin N, Comi GP.
Extended phenotype description and new molecular findings in late onset glycogen storage
disease type II: a northern Italy population study and review of the literature. J Neurol. 2014
Jan;261(1):83-97. doi: 10.1007/s00415-013-7137-2. Epub 2013 Oct 25. PubMed PMID:
24158270.
285.
Liguori R, Giannoccaro MP, Pasini E, Riguzzi P, Valentino ML, Comi GP, Carelli V,
Bresolin N, Michelucci R. Acute rhabdomyolysis induced by tonic-clonic epileptic seizures
in a patient with glucose-6-phosphate dehydrogenase deficiency. J Neurol. 2013
Oct;260(10):2669-71. doi: 10.1007/s00415-013-7103-z. Epub 2013 Sep 20. PubMed PMID:
24052116.
286.
Nizzardo M, Simone C, Rizzo F, Ruggieri M, Salani S, Riboldi G, Faravelli I, Zanetta C,
Bresolin N, Comi GP, Corti S. Minimally invasive transplantation of iPSC-derived
ALDHhiSSCloVLA4+ neural stem cells effectively improves the phenotype of an
amyotrophic lateral sclerosis model. Hum Mol Genet. 2014 Jan 15;23(2):342-54. doi:
10.1093/hmg/ddt425. Epub 2013 Sep 4. PubMed PMID: 24006477; PubMed Central
PMCID: PMC3869354.
287.
Remiche G, Ronchi D, Lamperti C, Bordoni A, Magri F, Moggio M, Comi GP. Spontaneous
hydromyelic cavity in two unrelated patients with late-onset pompe disease: is this a
fortuitous association? Eur Neurol. 2013;70(1-2):102-5. doi: 10.1159/000350851. Epub
2013 Jul 9. PubMed PMID: 23860444.
288.
Calini D, Corrado L, Del Bo R, Gagliardi S, Pensato V, Verde F, Corti S, Mazzini L, Milani
P, Castellotti B, Bertolin C, Sorarù G, Cereda C, Comi GP, D'Alfonso S, Gellera C, Ticozzi
N, Landers JE, Ratti A, Silani V; SLAGEN Consortium. Analysis of hnRNPA1, A2/B1, and
A3 genes in patients with amyotrophic lateral sclerosis. Neurobiol Aging. 2013
Nov;34(11):2695.e11-2. doi: 10.1016/j.neurobiolaging.2013.05.025. Epub 2013 Jul 2.
PubMed PMID: 23827524.
289.
Ranieri M, Brajkovic S, Riboldi G, Ronchi D, Rizzo F, Bresolin N, Corti S, Comi GP.
Mitochondrial fusion proteins and human diseases. Neurol Res Int. 2013;2013:293893. doi:
10.1155/2013/293893. Epub 2013 May 27. PubMed PMID: 23781337; PubMed Central
PMCID: PMC3678461.
290.
Govoni A, Magri F, Brajkovic S, Zanetta C, Faravelli I, Corti S, Bresolin N, Comi GP.
Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy. Cell
Mol Life Sci. 2013 Dec;70(23):4585-602. doi: 10.1007/s00018-013-1396-z. Epub 2013 Jun
18. Review. PubMed PMID: 23775131.
Pag. 121 di
291.
Forni D, Cagliani R, Pozzoli U, Colleoni M, Riva S, Biasin M, Filippi G, De Gioia L, Gnudi
F, Comi GP, Bresolin N, Clerici M, Sironi M. A 175 million year history of T cell
regulatory molecules reveals widespread selection, with adaptive evolution of disease
alleles. Immunity. 2013 Jun 27;38(6):1129-41. doi: 10.1016/j.immuni.2013.04.008. Epub
2013 May 23. PubMed PMID: 23707475.
292.
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M,
Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Caldarazzo Ienco E, Filosto
M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM,
Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino ML, Vercelli L, Zeviani M,
Siciliano G. Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.
Neurology. 2013 May 28;80(22):2049-54. doi: 10.1212/WNL.0b013e318294b44c. Epub
2013 May 1. PubMed PMID: 23635963.
293.
Remiche G, Lo Mauro A, Tarsia P, Ronchi D, Bordoni A, Magri F, Comi GP, Aliverti A,
D'Angelo MG. Postural effects on lung and chest wall volumes in late onset type II
glycogenosis patients. Respir Physiol Neurobiol. 2013 May 1;186(3):308-14. doi:
10.1016/j.resp.2013.03.004. Epub 2013 Mar 15. PubMed PMID: 23501539.
294.
Galimberti D, Fenoglio C, Serpente M, Villa C, Bonsi R, Arighi A, Fumagalli GG, Del Bo
R, Bruni AC, Anfossi M, Clodomiro A, Cupidi C, Nacmias B, Sorbi S, Piaceri I, Bagnoli S,
Bessi V, Marcone A, Cerami C, Cappa SF, Filippi M, Agosta F, Magnani G, Comi G,
Franceschi M, Rainero I, Giordana MT, Rubino E, Ferrero P, Rogaeva E, Xi Z, Confaloni
A, Piscopo P, Bruno G, Talarico G, Cagnin A, Clerici F, Dell'Osso B, Comi GP, Altamura
AC, Mariani C, Scarpini E. Autosomal dominant frontotemporal lobar degeneration due to
the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation.
Biol Psychiatry. 2013 Sep 1;74(5):384-91. doi: 10.1016/j.biopsych.2013.01.031. Epub 2013
Mar 7. PubMed PMID: 23473366.
295.
Cagliani R, Guerini FR, Rubio-Acero R, Baglio F, Forni D, Agliardi C, Griffanti L,
Fumagalli M, Pozzoli U, Riva S, Calabrese E, Sikora M, Casals F, Comi GP, Bresolin N,
Cáceres M, Clerici M, Sironi M. Long-standing balancing selection in the THBS4 gene:
influence on sex-specific brain expression and gray matter volumes in Alzheimer disease.
Hum Mutat. 2013 May;34(5):743-53. doi: 10.1002/humu.22301. Epub 2013 Apr 2. PubMed
PMID: 23420636.
296.
Cagliani R, Pozzoli U, Forni D, Cassinotti A, Fumagalli M, Giani M, Fichera M,
Lombardini M, Ardizzone S, Asselta R, de Franchis R, Riva S, Biasin M, Comi GP,
Bresolin N, Clerici M, Sironi M. Crohn's disease loci are common targets of protozoa-driven
selection. Mol Biol Evol. 2013 May;30(5):1077-87. doi: 10.1093/molbev/mst020. Epub
2013 Feb 6. PubMed PMID: 23389767.
297.
Ronchi D, Di Fonzo A, Lin W, Bordoni A, Liu C, Fassone E, Pagliarani S, Rizzuti M,
Zheng L, Filosto M, Ferrò MT, Ranieri M, Magri F, Peverelli L, Li H, Yuan YC, Corti S,
Sciacco M, Moggio M, Bresolin N, Shen B, Comi GP. Mutations in DNA2 link progressive
myopathy to mitochondrial DNA instability. Am J Hum Genet. 2013 Feb 7;92(2):293-300.
doi: 10.1016/j.ajhg.2012.12.014. Epub 2013 Jan 24. PubMed PMID: 23352259; PubMed
Central PMCID: PMC3567272.
298.
Cheldi A, Ronchi D, Bordoni A, Bordo B, Lanfranconi S, Bellotti MG, Corti S, Lucchini V,
Pag. 122 di
Sciacco M, Moggio M, Baron P, Comi GP, Colombo A, Bersano A; Lombardia GENS
collaborators. POLG1 mutations and stroke like episodes: a distinct clinical entity rather
than an atypical MELAS syndrome. BMC Neurol. 2013 Jan 15;13:8. doi: 10.1186/14712377-13-8. PubMed PMID: 23324391; PubMed Central PMCID: PMC3570393.
299.
Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K,
Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M,
Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T,
Minczuk M, Kunz WS, Prokisch H. Loss-of-function mutations in MGME1 impair mtDNA
replication and cause multisystemic mitochondrial disease. Nat Genet. 2013 Feb;45(2):2149. doi: 10.1038/ng.2501. Epub 2013 Jan 13. PubMed PMID: 23313956; PubMed Central
PMCID: PMC3678843.
300.
Dilena R, Abicht A, Sergi P, Comi GP, Di Fonzo A, Chidini G, Natacci F, Barbieri S,
Lochmüller H. Congenital myasthenic syndrome due to choline acetyltransferase mutations
in infants: clinical suspicion and comprehensive electrophysiological assessment are
important for early diagnosis. J Child Neurol. 2014 Mar;29(3):389-93. doi:
10.1177/0883073812470000. Epub 2013 Jan 4. PubMed PMID: 23292760.
301.
Ciccolella M, Corti S, Catteruccia M, Petrini S, Tozzi G, Rizza T, Carrozzo R, Nizzardo M,
Bordoni A, Ronchi D, D'Amico A, Rizzo C, Comi GP, Bertini E. Riboflavin transporter 3
involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations. J Med
Genet. 2013 Feb;50(2):104-7. doi: 10.1136/jmedgenet-2012-101204. Epub 2012 Dec 14.
PubMed PMID: 23243084.
302.
Nizzardo M, Simone C, Falcone M, Riboldi G, Comi GP, Bresolin N, Corti S. Direct
reprogramming of adult somatic cells into other lineages: past evidence and future
perspectives. Cell Transplant. 2013;22(6):921-44. doi: 10.3727/096368912X657477. Epub
2012 Oct 3. Review. PubMed PMID: 23044010.
303.
Ulzi G, Sansone VA, Magri F, Corti S, Bresolin N, Comi GP, Lucchiari S. In vitro analysis
of splice site mutations in the CLCN1 gene using the minigene assay. Mol Biol Rep. 2014
May;41(5):2865-74. doi: 10.1007/s11033-014-3142-5. Epub 2014 Jan 23. PubMed PMID:
24452722.
304.
Pane M, Mazzone ES, Sormani MP, Messina S, Vita GL, Fanelli L, Berardinelli A, Torrente
Y, D'Amico A, Lanzillotta V, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L,
Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Bianco F, Van der Haawue M, Magri F,
Palermo C, Rossi F, Donati MA, Alfonsi C, Sacchini M, Arnoldi MT, Baranello G, Mongini
T, Pini A, Battini R, Pegoraro E, Previtali SC, Napolitano S, Bruno C, Politano L, Comi
GP, Bertini E, Morandi L, Gualandi F, Ferlini A, Goemans N, Mercuri E. 6 minute walk test
in Duchenne MD patients with different mutations: 12 month changes. PLoS One. 2014 Jan
8;9(1):e83400. doi: 10.1371/journal.pone.0083400. eCollection 2014. PubMed PMID:
24421885; PubMed Central PMCID: PMC3885414.
305.
Zanetta C, Riboldi G, Nizzardo M, Simone C, Faravelli I, Bresolin N, Comi GP, Corti S.
Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy
(SMA). J Cell Mol Med. 2014 Feb;18(2):187-96. doi: 10.1111/jcmm.12224. Epub 2014 Jan
8. Review. PubMed PMID: 24400925.
306.
Ronchi D, Di Fonzo A, Lin W, Bordoni A, Liu C, Fassone E, Pagliarani S, Rizzuti M,
Pag. 123 di
Zheng L, Filosto M, Ferrò MT, Ranieri M, Magri F, Peverelli L, Li H, Yuan YC, Corti S,
Sciacco M, Moggio M, Bresolin N, Shen B, Comi GP. Mutations in DNA2 link progressive
myopathy to mitochondrial DNA instability. Am J Hum Genet. 2013 Feb 7;92(2):293-300.
doi: 10.1016/j.ajhg.2012.12.014. Epub 2013 Jan 24. PubMed PMID: 23352259; PubMed
Central PMCID: PMC3567272.
307.
Faravelli I, Riboldi G, Nizzardo M, Simone C, Zanetta C, Bresolin N, Comi GP, Corti S.
Stem cell transplantation for amyotrophic lateral sclerosis: therapeutic potential and
perspectives on clinical translation. Cell Mol Life Sci. 2014 Apr 4. [Epub ahead of print]
PubMed PMID: 24699704.
308.
Forni D, Cagliani R, Tresoldi C, Pozzoli U, De Gioia L, Filippi G, Riva S, Menozzi G,
Colleoni M, Biasin M, Lo Caputo S, Mazzotta F, Comi GP, Bresolin N, Clerici M, Sironi
M. An evolutionary analysis of antigen processing and presentation across different
timescales reveals pervasive selection. PLoS Genet. 2014 Mar 27;10(3):e1004189. doi:
10.1371/journal.pgen.1004189. eCollection 2014 Mar. PubMed PMID: 24675550; PubMed
Central PMCID: PMC3967941.
309.
Nizzardo M, Simone C, Salani S, Ruepp MD, Rizzo F, Ruggieri M, Zanetta C, Brajkovic S,
Moulton HM, Müehlemann O, Bresolin N, Comi GP, Corti S. Effect of combined systemic
and local morpholino treatment on the spinal muscular atrophy Δ7 mouse model phenotype.
Clin Ther. 2014 Mar 1;36(3):340-56.e5. doi: 10.1016/j.clinthera.2014.02.004. PubMed
PMID: 24636820.
310.
Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V,
Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L,
Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G,
Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G. Myoclonus in
mitochondrial disorders. Mov Disord. 2014 May;29(6):722-8. doi: 10.1002/mds.25839.
Epub 2014 Feb 7. PubMed PMID: 24510442.
311.
Protti A, Fortunato F, Caspani ML, Pluderi M, Lucchini V, Grimoldi N, Solimeno LP,
Fagiolari G, Ciscato P, Zella SM, Moggio M, Comi GP, Gattinoni L. Mitochondrial changes
in platelets are not related to those in skeletal muscle during human septic shock. PLoS One.
2014 May 1;9(5):e96205. doi: 10.1371/journal.pone.0096205. eCollection 2014. PubMed
PMID: 24787741; PubMed Central PMCID: PMC4006866.
312.
Guerini FR, Clerici M, Cagliani R, Malhotra S, Montalban X, Forni D, Agliardi C, Riva S,
Caputo D, Galimberti D, Asselta R, Fenoglio C, Scarpini E, Comi GP, Bresolin N,
Comabella M, Sironi M. No association of IFI16 (interferon-inducible protein 16) variants
with susceptibility to multiple sclerosis. J Neuroimmunol. 2014 Jun 15;271(1-2):49-52. doi:
10.1016/j.jneuroim.2014.04.006. Epub 2014 Apr 16. PubMed PMID: 24794504.
313.
McDonald CM, Henricson EK, Abresch RT, Florence JM, Eagle M, Gappmaier E,
Glanzman AM; PTC124-GD-007-DMD Study Group, Spiegel R, Barth J, Elfring G, Reha
A, Peltz S. The 6-minute walk test and other endpoints in Duchenne muscular dystrophy:
longitudinal natural history observations over 48 weeks from a multicenter study. Muscle
Nerve. 2013 Sep;48(3):343-56. doi: 10.1002/mus.23902. Epub 2013 Jun 26. PubMed
PMID: 23681930; PubMed Central PMCID: PMC3824082.
314.
McDonald CM, Henricson EK, Abresch RT, Florence J, Eagle M, Gappmaier E, Glanzman
Pag. 124 di
AM; PTC124-GD-007-DMD Study Group, Spiegel R, Barth J, Elfring G, Reha A, Peltz
SW. The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy:
reliability, concurrent validity, and minimal clinically important differences from a
multicenter study. Muscle Nerve. 2013 Sep;48(3):357-68. doi: 10.1002/mus.23905. Epub
2013 Jul 17. PubMed PMID: 23674289; PubMed Central PMCID: PMC3826053.
315.
Di Fonzo A, Ronchi D, Gallia F, Cribiù FM, Trezzi I, Vetro A, Della Mina E, Limongelli I,
Bellazzi R, Ricca I, Micieli G, Fassone E, Rizzuti M, Bordoni A, Fortunato F, Salani S,
Mora G, Corti S, Ceroni M, Bosari S, Zuffardi O, Bresolin N, Nobile-Orazio E, Comi GP.
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.
Neurology. 2014 Jun 3;82(22):1990-8. doi: 10.1212/WNL.0000000000000476. Epub 2014
May 7. PubMed PMID: 24808015.
316.
Riboldi G, Zanetta C, Ranieri M, Nizzardo M, Simone C, Magri F, Bresolin N, Comi GP,
Corti S. Antisense Oligonucleotide Therapy for the Treatment of C9ORF72 ALS/FTD
Diseases. Mol Neurobiol. 2014 May 9.
317.
Simone C, Nizzardo C, Rizzo F, Ruggieri M, Riboldi G, Salani S, Bucchia M, Bresolin N,
Comi GP, Corti S iPSC-Derived Neural Stem Cells Act via Kinase Inhibition to Exert
Neuroprotective Effects in Spinal Muscular Atrophy with Respiratory Distress Type 1, tem
Cell Reports. 2014 Aug 12;3(2):297-311. doi:10.1016/j.stemcr.2014.06.004. Epub 2014 Jul
4. PubMed PMID: 25254343; PubMed Central PMCID: PMC4176534
.
318.
Pagliarani S, Lucchiari S, Ulzi G, Violano R, Ripolone M, Bordoni A, Nizzardo M, Gatti S,
Corti S, Moggio M, Bresolin N, Comi GP. Glycogen storage disease type III: A novel Agl
knockout mouse model. Biochim Biophys Acta. 2014Nov;1842(11):2318-28. doi:
10.1016/j.bbadis.2014.07.029. Epub 2014 Aug 1. PubMed PMID: 25092169.
319.
Lanfranconi S, Ronchi D, Ahmed N, Civelli V, Basilico P, Bresolin N, Comi GP, Corti S. A
novel CCM1 mutation associated with multiple cerebral and vertebral cavernous
malformations. BMC Neurol. 2014 Aug 3;14(1):158. doi: 10.1186/s12883-014-0158-3.
PubMed PMID: 25086949.
320.
Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, DayJW,
Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B,
Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL,
Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha
A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY
GROUP. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle
Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332. PubMed PMID:25042182.
321.
Pane M, Mazzone ES, Sivo S, Sormani MP, Messina S, D Amico A, Carlesi A, Vita G,
Fanelli L, Berardinelli A, Torrente Y, Lanzillotta V, Viggiano E, D Ambrosio P, Cavallaro
F, Frosini S, Barp A, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Graziano A, Magri F,
Palermo C, Rossi F, Donati MA, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A,
Battini R, Pegoraro E, Previtali S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E.
Long term natural history data in ambulant boys with duchenne muscular dystrophy: 36month changes. PLoS One. 2014 Oct 1;9(10):e108205. doi: 10.1371/journal.pone.0108205.
eCollection 2014. PubMed PMID: 25271887; PubMed Central PMCID: PMC4182715.
Pag. 125 di
Lavori pubblicati come Abstracts a congressi internazionali:
1.
Bet L., Bresolin N., Binda A., Nador F., Ferrante C., Comi G., Scarlato G.
Cardiac Improvement after Coenzyme Q10 treatment in patients with Kearns-Sayre
Syndrome.
39th Annual Meeting of the American Academy of Neurology, New York, NY, USA,
April 5-11, 1987.
Neurology, Vol 37, 3, Suppl. 1, 1987.
2.
Bresolin N., Bet L., Moggio M., Meola G., Spreafico C., Fiorelli C., Comi G.,
Scarlato G.
A New Cause for Myoglobinuria: Human Muscle Glucose-6-Phosphate
Dehydrogenase Deficiency.
40th Annual Meeting of the American Academy of Neurology, Cincinnati, OH,
USA, April 17-23, 1988.
Neurology, Vol. 38, 3, Suppl. 1, 1988.
3.
Comi G., Bresolin N., Bet L., Bossoni G., Ratti E., Girelli M., Scarlato G.
Brain Areas' Metabolism in Aging and Microencephalic Rats.
40th Annual Meeting of the American Academy of Neurology, Cincinnati, OH,
USA, April 17-23, 1988.
Neurology, Vol. 38, 3, Suppl. 1, 1988.
4.
Comi G., Miletich R.S., Finn R., Adams R., Francis B., Bankiewicz K., Di Chiro G.
6-(18F)Fluoro-L-Dopa peripheral metabolism in rhesus monkeys.
41th Annual Meeting of the American Academy of Neurology,
Chicago, IL, USA, April 13-19.1989.
Neurology, Vol. 39, 3, Suppl. 1, 1989.
5.
Miletich R.S., Bankiewicz K., Plunkett R., Comi G., Finn R., Kopin I.J., Di Chiro G.
6-(18F)Fluoro-L-Dopa PET imaging of catecholaminergic fiber sprouting.
XIV International Symposium on Cerebral Blood Flow and Metabolism, Bologna,
May 28-June 1, 1989.
Journal of Cerebral Blood Flow and Metabolism
6.
Comi G., Miletich R.S., Finn R., Adams R., Francis B., Bankiewicz K., Di Chiro G.
6-(18F)Fluoro-L-Dopa peripheral metabolism in humans and monkeys.
XIV International Symposium on Cerebral Blood Flow and Metabolism, Bologna,
May 28-June 1, 1989.
Journal of Cerebral Blood Flow and Metabolism
7.
Comi G., Miletich R.S., Kopin I., Bankiewicz K., Plunkett R., Adams R., Dunn B., Di
Chiro G.
Metabolism and PET imaging of 6-(18F)Fluoro-L-Dopa after
catechol-O-methyl transferase inhibition in normal and hemiparkinsonian monkeys.
42nd Annual Meeting of the American Academy of Neurology, Miami Beach, FL,
USA, April 30-May 6, 1990.
Neurology, 39, 3, Suppl. 1, 1990.
Pag. 126 di
8.
Bresolin N., Fortunato F., Meola G., Prelle A., Ninfali P., Ciafaloni E., Comi G.,
Scarlato G.
Muscle Galactose-1-Phosphate Uridyl Transferase deficiency.
42nd Annual Meeting of the American Academy of Neurology, Miami Beach, FL,
USA, April 30-May 6, 1990.
Neurology, 39, 3, Suppl. 1, 1990.
9.
Bado M., Bresolin N., Cordone G., Fortunato F., Comi G., Castelli E., Gallanti A.,
Scarlato G.
Myoglobinuria in a female patient with muscle G6PD deficiency.
42nd Annual Meeting of the American Academy of Neurology, Miami Beach, FL,
USA, April 30-May 6, 1990.
Neurology, 39, 3, Suppl. 1, 1990.
10.
Bresolin N., Fortunato F., Meola G., Comi G., A.Prelle, Scarlato G., Ninfali P.
A new myopathy: Galactose 1-P uridyl transferase deficiency.
II meeting of the European Neurological Society. 20 June-5 July 1990 Brighton,
U.K.
Journal of Neurology, 277 (S1), pg.101, 1990.
11.
N. Bresolin, G. Comi, F. Fortunato, G. Meola, A. Gallanti, G. Scarlato.
Galactose-1-Phosphate Uridyl transferase Muscle deficiency: the first report.
VII International Congress on Neuromuscular Diseases. Munich, FRG
16-22 September 1990.
Journal of the Neurological Sciences, 98 (Suppl. 1), pg 245, 1990.
12.
E.Castelli, N.Bresolin, A.C.Turconi, G. Comi, R.Garghentino, D. Gallotti, P.
Fraschini, G.Moretti.
Mental impairment in Duchenne Muscular Dystrophy (DMD): Xp21 Locus Gene
Mutation or nonspecific X-Linked Mental Retardation?
American Academy of Neurology. 44th Annual meeting. San Diego, California USA.
May 3-9-1992
Neurology, 41 (S1), pg. 227, 1992.
13.
A. Prelle, G. Fagiolari, A. Bordoni, A. Battistel, N. Checcarelli, G.P. Comi, M.
Moggio, G. Scarlato.
Expression of deleted mtDNA in muscle fibers of patient with mitochondrial
myopathy.
American Academy of Neurology. 44th Annual meeting San Diego, California USA.
May 3-9, 1992.
Neurology, 41 (S1), pg. 287, 1992.
14.
N. Bresolin, G. Comi, F. Mazzucchelli, A. Fassati, E. Calabrese, G. Meola.
Ageing and Alzheimer's disease: mitochondrial DNA deletions and peripheral
markers.
International Society for Developmental Neuroscience. La Grande Motte, France,
June 14-18, 1992.
International Journal of Developmental Neuroscience.
Program and Abstracts, pg. 39.
Pag. 127 di
15.
N. Bresolin, G.P. Comi, E.Castelli, D.Perani, A.Turconi, A. Papadimitriou, R.
Garghentino, G. Scarlato.
Multidisciplinary investigation in Duchenne muscle dystrophy: first step towards
therapy.
Third Meeting of The European Neurological Society, 27-June-1 July, Lausanne,
Switzerland.
Journal of Neurology, 239 (Suppl. 2), 29, 1992.
16.
Turconi A.C., Fraschini P. Garghentino R., Negretto G. Castelli E., Comi G.,
Gallanti A., Bresolin N.
Survey on physioterapic effectivness in 50 DMD patients.
Third Meeting of The European Neurological Society, 27-June-1 July, Lausanne,
Switzerland.
Journal of Neurology, 239 (Suppl. 2), 29, 1992.
16.
E.Castelli, N.Bresolin, A.Turconi, G. Comi, G. Moretti.
Neuropsychological defects in DMD patients: brain dystrophyn
deficiency or non specific X-linked mental retardation?
Third Meeting of The European Neurological Society, 27-June-1 July, Lausanne,
Switzerland.
Journal of Neurology, 239 (Suppl. 2), 29, 1992.
17.
Adobbati L., Comi G., Jann S., Beretta S., Moggio M., Pellegrini G.
Dystrophin analysis in a BMD manifesting carrier.
Third Meeting of The European Neurological Society, 27-June-1 July, Lausanne,
Switzerland.
Journal of Neurology, 239 (Suppl. 2), 29, 1992.
18.
Gallanti A., G.P. Comi, P.Ciscato, A.Comini, N. Bresolin, M. Moggio, G. Scarlato.
Dystrophin and desmin muscle storage in a congenital myopathy.
Third Meeting of The European Neurological Society, 27-June-1 July, Lausanne,
Switzerland.
Journal of Neurology, 239 (Suppl. 2), 84, 1992.
19.
F. Mazzucchelli, N. Bresolin, G. Felisari, A. Bardoni, G.P. Comi, G. Meola, P.
Ninfali, M.G. Piscaglia, G.Scarlato.
Clinical and biochemical survey on muscle involvement in G6PD deficiency.
Third Meeting of The European Neurological Society, 27-June-1 July, Lausanne,
Switzerland.
Journal of Neurology, 239 (Suppl. 2), 84-85, 1992.
20.
G.P. Comi, A. Gallanti, N. Bresolin, A. Papadimitriou et al.
Clinical variability in BMD patients: genetic, biochemical and immunohistochemical
correlates.
Third Meeting of The European Neurological Society, 27-June-1 July, Lausanne,
Switzerland.
Journal of Neurology, 239 (Suppl. 2), 99, 1992.
21.
Toscano A., Vita G., Bordoni A., Fazio M.C., Comi G.P., Bresolin N., Zeviani
M.,Messina C.
Pag. 128 di
Kearns-Sayre Syndrome following Pearson's Syndrome neonal features: clinical,
biochemical and genetic study.
Euromit. 2nd International Congress on Human Mitochondrial Pathology. Rome,
September 21-23, 1992. Programme Abstracts, p 54, 1992.
22.
Bresolin, A. Bardoni, G.P. Comi, Scarlato G.
From the genes to the clinical phenotypes in the mitochondrial
encephalomyopathies.
Molecular bases of Human diseases. International meeting
Milan, September 27-October 1, pg 129-131, 1992.
23.
E. Castelli, A. Turconi, P. Fraschini, R. Garghentino, N. Bresolin, G. Comi, M.
Moggio, G. Moretti.
Mental retardation in DMD: genetic analysis and clinical correlations in 50 patients.
Molecular bases of Human diseases. International meeting
Milan, September 27-October 1, pg 188, 1992.
24.
G.P. Comi, N. Bresolin, A. Bardoni, E. Castelli G. Scarlato
Duchenne Muscular Dystrophy brain promoter deletion not associated with mental
retardation.
Molecular bases of Human diseases. International meeting
Milan, September 27-October 1, pg. 191, 1992.
25.
E.F. Gonano, I. Moroni, G.P. Comi, A. Bordoni, V. Tegazzin,
N. Bresolin, G. Scarlato.
Malignant hyperthermia susceptibility: genetic analysis and caffeine-halotane
contracture test.
Molecular bases of Human diseases. International meeting
Milan, September 27-October 1, pg. 205, 1992.
26.
G.P. Comi, N. Bresolin, A. Bardoni, E. Castelli, A. Bordoni, T. Ottolini, A. Prelle,
G. Scarlato.
Absence of mental retardation in a DMD gene deltion involving brain dystrophin
promoter.
The American Society of Human Genetics. 42nd Annual Meeting,
San Francisco, California. November 9-13, 1992.
The American Journal of Human Genetics, 51, 4, A93., 1992.
27.
G.P. Comi, N. Bresolin, A. Bardoni, E. Castelli, A. Prelle, F. Fortunato, G. Scarlato.
Absence of mental retardation in a large DMD gene deletion involving brain
dystrophin promoter.
45th Annual Meeting American Academy of Neurology, New York, April 25-May 1,
1993.
Neurology, 43, 4, Suppplement, pg. A313, 1993.
28.
I Moroni, EF Gonano, N Bresolin, GP Comi, A Prelle, G Scarlato.
Clinical polymorphism in Malignant Hyperthermia susceptibility.
EMHG Annual Meeting, Abano Terme (PD), 21-22 May 1993
29.
A. Papadimitriou, G.M. Hadjigeorgiou, G. Comi, B. Aliberti, E. Kerezoudi, E.
Alexiou, N. Bresolin.
Pag. 129 di
Multiple deletions of muscle mt DNA in a patient with Parkinson's disease (P.D.) and
sensory neuropathy.
XVth World Congress of Neurology, Vancouver, September 5-10, 1993.
The Canadian Journal of Neurological Sciences, Vol. 20, Supplement 4, pg. S119.
30.
N. Bresolin, G.P. Comi, A. Fassati. A. Bordoni, P. Amboni, L. Amaducci, S. Sorbi, G.
Scarlato.
Quantitation of deleted mitochondrial DNA (mtDNA) in brain tissue sample of
Alzheimer disease patients by competitive P.C.R.
XVth World Congress of Neurology, Vancouver, September 5-10, 1993.
The Canadian Journal of Neurological Sciences,Vol. 20, Supplement 4, pg. S123.
31.
Bresolin N., Comi G.P., Mazzucchelli F., Ramacci M.T., Conti R., Velicogna M,
Fonzi N., Amboni P., D'Angelo MG, Rapuzzi S., Scarlato G.
AZT effects on human muscle cells and in animal model.
XVth World Congress of Neurology, Vancouver, September 5-10, 1993.
The Canadian Journal of Neurological Sciences, Vol. 20, Supplement 4, pg. S159,
1993.
32.
I Moroni, EF Gonano, V Tegazzin, GP Comi, A Bordoni, N Bresolin, G Scarlato.
Detection for a C1840->T point mutation in the RYR gene in Malignant
Hyperthermia (MH) susceptible individuals.
XVth World Congress of Neurology, Vancouver, September 5-10, 1993.
The Canadian Journal of Neurological Sciences, Vol. 20, Supplement 4, pg. S224,
1993.
33.
Castelli E., Bresolin N., Comi G., Turconi C., Garghentino R., Moggio M.,
Moretti G..
Neuropsychological impairment of Duchenne Muscular dystrophy (DMD) carriers
and their affected sons: a positive correlation.
XVth World Congress of Neurology, Vancouver, September 5-10, 1993.
The Canadian Journal of Neurological Sciences, Vol. 20, S 4, pg. S225, 1993.
34.
Ciafaloni E., Comi G. P. , Bresolin N., Bardoni A., DeSilva R., Garghentino R.,
Felisari G., Robotti M., Prelle A., Roses A., Scarlato G .
Aberrant transcript in the terminal Region of Dystrophin Gene in a congenital
Myopathy Patient.
46th Annual Meeting American Academy of Neurology. Washington
May 1-7, 1994.
Neurology, Vol.44 Number 4, Supplement. pg.A230, 1994.
35.
Bardoni A., Ciafaloni E., Comi G.P., Bresolin N., Robotti M., Moggio M. Rigoletto,
C. Roses A., Scarlato G.
Restoration of dystrophin mRNA reading frame in a patient with Becker-Duchenne
Dystrophy (BMD) with out of frame deletion.
Fourth Meeting of the European Neurological Society 25-29 June 1994, Barcelona,
Spain.
Journal of Neurology, 241, S52, 1994.
36.
E.Castelli, A.Turconi, N.Bresolin, D Perani, G.Comi
Pag. 130 di
The cerebellar contribution to higher function in Duchenne Muscular Dystrophy
(DMD).
Fourth Meeting of the European Neurological Society 25-29 June 1994, Barcelona,
Spain.
Journal of Neurology, 241, S52, 1994.
37.
F. Mazzucchelli, N. Bresolin, MG D'Angelo, L.Bet, GP Comi
"In vitro" effects of AZT on mitochondrial DNA.
Fourth Meeting of the European Neurological Society 25-29 June 1994, Barcelona,
Spain.
Journal of Neurology, 241, S54, 1994.
38.
I. Moroni, F. Gonano, G.P. Comi, N.Bresolin, G.Scarlato
Screening for new mutations of ryanodine receptor gene in central core disease
and malignant hyperthermia.
Fourth Meeting of the European Neurological Society 25-29 June 1994, Barcelona,
Spain.
Journal of Neurology, 241, S54, 1994.
39.
Rapuzzi S., Prelle A., Moggio M., Comi G., Fagiolari G., Ciscato P., Messina A.,
Battistel A., Bazzi P., Scarlato G.
High blood levels of creatin-kinase (CK) associated with cylindrical spirals in
muscle specimen.
Fourth Meeting of the European Neurological Society 25-29 June 1994, Barcelona,
Spain.
Journal of Neurology, 241, S54, 1994.
40.
A.Turconi, E.Castelli, N.Bresolin, G.Comi, G.Felisari
Clinical Features and Neuropsychological Functions in Duchenne Muscular
Dystrophy carriers and their affected sons.
Fourth Meeting of the European Neurological Society 25-29 June 1994, Barcelona,
Spain.
Journal of Neurology, 241, S55, 1994.
41.
A. Papadimitriou, R. Divari, G.Comi, I. Anastasopulos, N. Bresolin
Multiple Deletions of mtDNA in autosomal dominant inheritance and sporadic
cases of mitochondrial encephalomyopathy.
Fourth Meeting of the European Neurological Society 25-29 June 1994, Barcelona,
Spain.
Journal of Neurology, 241, S55, 1994.
42.
Prelle A., Rigoletto C., Ciscato P., Moggio M., Messina S., Comi G., Scarlato G.
Utrophin expression during human fetal development.
Fourth Meeting of the European Neurological Society 25-29 June 1994, Barcelona,
Spain.
Journal of Neurology, 241, S55, 1994.
43.
G.P. Comi, E.Ciafaloni, A.Bardoni, N.Bresolin, A.Prelle, A.Roses, G.Scarlato
Congenital Myopathy with dystrophin deficiency, aberrant mRNA spliced forms and
absence of Dp 116.
Pag. 131 di
Fourth Meeting of the European Neurological Society 25-29 June 1994, Barcelona,
Spain.
Journal of Neurology, 241, S96, 1994.
44.
F.Mazzucchelli, N.Bresolin, MG D'Angelo, G.P. Comi, C.Ausenda
Mitochondrial DNA content decrease and cellular replication capability: relationship
to zidovudine treatment; an "in vitro" study.
Jahrestagung der Deutschen Gesellschaft fr Neuropathologie und Neuroanatomie.
Joint Meeting with the Italian Society of Neuropathology. Munchen 5-8 Oktober
1994.
45. Comi G.P., Ciafaloni E., Prelle A., Bardoni A., De Silva R., Robotti M., Bresolin N.,
Scarlato G.
Point mutation at the 5' splice site of dystrophin gene exon 69 with multiple
aberrant mRNAs in a severe DMD patient.
First European Federation of Neurological Societies Meeting on Muscle Disorders.
Athens, Greece, 31 October-1 November 1994.
46.
Bresolin N., Ausenda C.D., De Liso A., Gallanti A., Torrente Y., Del Bo R., Comi
G.P., Scarlato G.
The biolistic technique in control and mdx dystrophic mice.
47th Annual Meeting of the American Academy of Neurology, Seattle, WA, USA,
May 6-13, 1995.
Neurology, 45, S795, 1995.
47.
Ausenda C.D., D'AngeloM.G., Bordoni A., Perini M.P., Comi G.P., Mazzucchelli
F., Bresolin N., Scarlato G.
Towards the delopment of a MyoD approach for gene therapy of muscular therapy.
47th Annual Meeting of the American Academy of Neurology, Seattle, WA, USA,
May 6-13, 1995.
Neurology, 45, S795, 1995.
48.
Bardoni A., Comi G.P. Ciafaloni E., Robotti M., Del Bo R., Moggio M., Rigoletto
C., Bresolin N., Scarlato G.
Somatic mosaicism of a second site mutatio at the 5' splice site of exon 53 as
reversion mechanism in a BMD patient with out-of-frame deletion
Fifth Meeting of the European Neurological Society
Munich, Germany, 17-21 June 1995
Journal of Neurology, 242, 6 (S2), 35, 1995.
49.
Ausenda C., D'Angelo M.G., Gallanti A., Del Bo R., Comi G.P., Bresolin N.,
Scarlato G.
MyoD activation of physiologic promoters as a potential approach to myoblast
mediated gene transfer.
Fifth Meeting of the European Neurological Society
Munich, Germany, 17-21 June 1995
Journal of Neurology, 242, 6 (S2), 36, 1995.
50
Del Bo R., Bresolin N., Castelli E., Ausenda C., Bordoni A., Comi G.P., Turconi
A.C.
Clinical application of apolipoprotein E genotyping to Down's syndrome.
Pag. 132 di
Fifth Meeting of the European Neurological Society
Munich, Germany, 17-21 June 1995
Journal of Neurology, 242, 6 (S2), 57, 1995.
51.
Mazzucchelli F., Ausenda C., Del Bo R., D'Angelo M., Comi G., Bordoni A.,
Bresolin N., Scarlato G.
AZT treatment does not affect mitochondrial DNA (mtDNA) quantity but it affects the
transcription and the translation of mtDNA in fetal rat neuronal cell cultures.
Fifth Meeting of the European Neurological Society
Munich, Germany, 17-21 June 1995
Journal of Neurology, 242, 6 (S2), 47, 1995.
52.
Comi G.P. Mariani G., Isimbaldi G., Torrente Y., Mazzucchelli F., Assi A., Secchi P.,
Perrone P., Bresolin N., Scarlato G.
Familial multiple symmetric lipomatosis without myoclonus epilepsy as the
predominant manifestation of the tRNA Lys A->G(8344) (MERRF) mitochondrial
DNA mutation.
Fifth Meeting of the European Neurological Society
Munich, Germany, 17-21 June 1995
Journal of Neurology, 242, 612, 1995.
53.
Comi G.P, Robotti M., Salani S., Ricci C., Rigoletto C., Ausenda C.D.,
Scarlato G.
Non-muscle dystrophin isoforms: proteins in search of a function.
Symposium on recent advances in diagnosis and therapy of neuromuscular diseases.
Prato, Italy. 21st-14th March, 1996.
Neuromuscular disorders, Vol 6, 2, S11, 1996.
54.
Bresolin N., Ausenda C.D., De Liso A., Torrente Y., D'Angelo M.G., Casati R.,
Benti R., Ciscato P., Moggio M., Comi G.P., Scarlato G.
Myoblast mediated gene transfer by intra-arterial injection in mdx mouse.
Symposium on recent advances in diagnosis and therapy of neuromuscular diseases,
Prato, Italy. 21st-14th March, 1996.
Neuromuscular disorders, Vol 6, 2, S11, 1996.
55.
Ausenda C.D., Cattaneo E., D'Angelo MG, Del Bo R., Perini M.P., Torrente Y.,
Nesti S., Comi G.P., Conti L., Govoni S., Bresolin N., Scarlato G.
An efficient transfection method for all kind of cultured neural tissue: the biolistic
technique.
Symposium on recent advances in diagnosis and therapy of neuromuscular diseases,
Prato, Italy. 21st-14th March, 1996.
Neuromuscular disorders, Vol 6, 2, S11, 1996.
56.
Ausenda C.d., Cattaneo E., D'Angelo M.G., Del Bo R., Perini M.P., Torrente Y.,
Nesti S., Conti L., Comi G.P., Govoni S., Bresolin N., Scarlato G.
The biolistic technique for gene transferin cultured neural tissue.
Sixth Meeting of the European Neurological Society.
8-12 June 1996. The Hague, The Netherlands.
Journal of Neurology, Suppl. 2, 243, 1996.
57.
Sciacco M., Comi G.P., Prelle A., Battistel A., Moggio M., A., Toscano A.,
Pag. 133 di
Adobbati L., Rizzi C., Papadimitriou A., Scarlato G.
Retrospective study of a large population of patients affected with mitochondrial
encephalomyopathy: clinical, morphological, biochemical and molecular genetic
evaluation.
Sixth Meeting of the European Neurological Society.
8-12 June 1996. The Hague, The Netherlands.
Journal of Neurology, Suppl. 2, 23, 1996.
58.
Bresolin N., Ausenda C.D., De Liso A., Torrente Y., D'Angelo M.G:, Casati R.,
Benti R.., Colombo F.R., Moggio M., Comi G.P. Scarlato G.
Intra-arterial injection of myogenic cells in MDX dystrophic mouse
Sixth Meeting of the European Neurological Society.
8-12 June 1996. The Hague, The Netherlands.
Journal of Neurology, Suppl. 2, 243, 1996.
59.
Comi G.P., Carpo M., Nobile-Orazio E., Rizzi C., Del Bo R., Battistel A.
Scarlato G.
Proximal myotonic myopathy (PROMM) syndrome without CTG expansion.
Sixth Meeting of the European Neurological Society.
8-12 June 1996. The Hague, The Netherlands.
Journal of Neurology, Suppl. 2, 111, 1996.
60.
Comi G.P., Rigoletto C., Bresolin N., Prelle A., Bignotti V., Turconi A., Felisari G.,
Ciscato P., Salani S., Scarlato G.
Congenital muscular dystrophy (CMD) with partial merosin deficiency
Sixth Meeting of the European Neurological Society.
8-12 June 1996. The Hague, The Netherlands.
Journal of Neurology, Suppl. 2, 97, 1996.
61.
Del Bo R., Castelli E., De Giuli A., Comi G., Conti E., Bresolin N.
The apoliprotein E4 allele causes a faster decline of cognitive performances in
Down Syndrome patients.
Sixth Meeting of the European Neurological Society.
8-12 June 1996. The Hague, The Netherlands.
Journal of Neurology, Suppl. 2, 36, 1996.
62.
Bresolin N., Del Bo R., Castelli E., Ausenda C.D., Comi G.P., D'Angelo M.G.,
Perini M.P., Baldessari S., De Giuli A. Scarlato G.,
Mitochondrial DNA mutations (tRNA Gln4336 and ND2 5460) in Down's syndrome.
Sixth Meeting of the European Neurological Society.
8-12 June 1996. The Hague, The Netherlands.
Journal of Neurology, Suppl. 2, 96, 1996.
63.
D'Angelo M.G., Ausenda C.D., Nesti S., Bordoni A., Del Bo R. Torrente Y., Perini
M.P., Corti S., Comi G., Bresolin N., Scralato G.
Permanently transformed myogenic cell lines treated with 5-azacytidine show an
enhanced expression of the exogenous gene.
Sixth Meeting of the European Neurological Society.
8-12 June 1996. The Hague, The Netherlands.
Journal of Neurology, Suppl. 2, 96, 1996.
Pag. 134 di
64. . Felisari G. Turconi A.C., Bresolin N., Comi G.P., Rigoletto C., Prelle A.,
Piccininini L., Garghentino R., Scarlato G.
Atypical features in a case of congenital muscular dystrophy (CMD) with
partial merosin deficiency.
First Congress of the World Muscle Society 1997
Neuromuscular Disorders.
65.
Torrente Y., Bresolin N., Ausenda C.D., De Liso A., D'Angelo M.G., Casati R.,
Benti R., Corti S., Comi G., Scarlato G.
Extracorporeal circulation as a new experimental approach for myoblast
implantation.
American Academy of Neurology
49th Annual Meeting, April 12-19, 1997; Boston, USA.
Neurology, 48, 3: 442: 1997.
66.
D'Angelo M.G., Ausenda C.D., Torrente Y., Corti S., Perini M.P., Colucci M.,
5'Azacytidine enhances exogenous gene expression in muscle.
American Academy of Neurology
49th Annual Meeting, April 12-19, 1997, Boston, USA.
Neurology, 48, 3: 442: 1997.
67.
Ausenda C.D., D'Angelo M.G., Bordoni A., Baldessari S., Del Bo., Comi G.P.,
Bresolin N., Scarlato G.
Tetracycline modulation of MyoD for autologous myoblast mediated gene transfer.
American Academy of Neurology
49th Annual Meeting, April 12-19, 1997, Boston, USA.
Neurology, 48, 3: 441: 1997.
68.
Sciacco M., Prelle A., Napoli L., Comi G.P., Bresolin N., Toscano A.,
Papadimitriou A., Moggio M., Scarlato G.
Mitochondrial encephalomyopathies: retrospective study of a population of 220
patients selected according to clinical, morphological and molecular genetic criteria.
American Academy of Neurology
49th Annual Meeting, April 12-19, 1997, Boston, USA.
Neurology, 48, 3: 353: 1997.
69.
Epidemiologic survey of a large population of patients with Duchenne Muscular
Dystrophy
Martinelli F., Felisari G., Turconi A., Comi G.P., Robotti M., Ausenda C.D.,
Scarlato G., Bresolin N.
American Academy of Neurology
49th Annual Meeting, April 12-19, 1997, Boston, USA.
Neurology, 48, 3: 297: 1997.
70. Prelle A., Tancredi L., Comi G.P., Rigoletto C., Ciscato P., Fortunato F., Felisari G.,
Moggio M., Scarlato G.
Frequency of - and -sarcoglycan deficiency in a large populaion of myopathic
patients.
American Academy of Neurology
49th Annual Meeting, Boston, USA.
Neurology, 48, 3: 297: 1997.
Pag. 135 di
71. Hadjigeorgiou GM, Papadimitriou A, Bordoni A, Franceschina L, Salani S, Comi GP,
Bresolin N, Sciacco M, Scarlato G.
Search for rare mitochondrila DNA mutations in patients with ragged red fibers in
muscle biopsy.
3rd Meeting of the Mediterranean Society of Myology, Cyprus
Programme and Abstract Book, 47, 1997
72. Hadjigeorgiou GM, Papadimitriou A, Bordoni A, Franceschina L, Salani S, Comi GP,
Bresolin N, Sciacco M, Scarlato G.
Depletion of mtDNA in adults with MNGIE syndrome.
3rd Meeting of the Mediterranean Society of Myology, Cyprus
Programme and Abstract Book, 48, 1997
73. GP Comi, A Bordoni, S Salani, L Franceschina, M Sciacco, N. Bresolin, F Fortunato,
M Zeviani, CD Ausenda, L Napoli, M Moggio, J-W Taanman, Guglielmo Scarlato.
Out-of-frame heteroplasmic microdeletion of cytochrome c oxidase subunit I gene in a
patient with muscle COX deficiency and motor neuron disease
Seventh Meeting of the European Neurological Society, Rhodes, Greece, June 1997
Journal of Neurology, 244, S3: 15, 1997.
74.
Martinelli F, Felisari G, Turconi A, Comi GP, Robotti M, Ausenda CD, Bresolun N,
Scarlato G.
Epidemiological analysis of 70 patients affected by Duchenne muscular dystrophy:
evaluation of clinical and genetic parameters.
Seventh Meeting of the European Neurological Society, Rhodes, Greece, June 1997
Journal of Neurology, 244, S3: 136, 1997.
75.
Franceschina L, Salani S, Bordoni A, Comi GP, Sciacco M, Napoli L, Ausenda C,
Bresolin N, Scarlato G.
Heteroduplex analysis of mitochondrial myopathy patients without identified mutations
Seventh Meeting of the European Neurological Society, Rhodes, Greece, June 1997
Journal of Neurology, 244, S3: 136, 1997.
76.
Bordoni A, Comi GP, Nesti S, Isimbaldi G, Galli C, Bresolin N, Moggio M, Ausenda
CD, Hadjigeorgiou GM, Prelle A, Scarlato G.
High level of heteroplasmic mtDNA A3243G mutation in brain samples of a patient
with myopathy, PEO and ataxia.
Seventh Meeting of the European Neurological Society, Rhodes, Greece, June 1997
Journal of Neurology, 244, S3: 136-137, 1997.
77.
Prelle A, Comi GP, Tancredi L, Rigoletto C, ciscato P, fortunato F, Nesti S, Felisari G,
Moggio M, Scarlato G.
Clinical-molecular evaluation of a large population of myopathic patients: frequency of
sarcoglycanopathies.
Seventh Meeting of the European Neurological Society, Rhodes, Greece, June 1997
Journal of Neurology, 244, S3: 137, 1997.
78.
Torrente Y, Bresolin N, Ausenda CD, De Liso A, D'Angelo MG, Casati R, Benti S, Pag. 136 di
Corti S, Comi G, Scarlato G.
Experimental model for gene therapy in Duchenne Muscular Dystrophy: extracorporeal
circulation for myoblast implantation.
Seventh Meeting of the European Neurological Society, Rhodes, Greece, June 1997
Journal of Neurology, 244, S3: 137, 1997.
79.
Baldessari S, Ausenda CD, D'Angelo MG, Sironi M, Ciscato P, Perini MP, Colucci M,
Comi GP, Moggio M, Scarlato G.
Mitochondrial targeting sequence drivives a reporter protein into mitochondria of
muscular tissue.
Seventh Meeting of the European Neurological Society, Rhodes, Greece, June 1997
Journal of Neurology, 244, S3: 137, 1997.
80.
Ausenda CD, D'Angelo MG, Giorda R, Del Bo R, Perini MP, Bordoni A, Corti S, Comi
GP, Bresolin N, Scarlato G.
Modulation of myogenesis for the development of autologous transplant of myoblasts.
Seventh Meeting of the European Neurological Society, Rhodes, Greece, June 1997
Journal of Neurology, 244, S3: 137, 1997.
81.
Bresolin N, Comi G.
Genotype-phenotype correlations in mitochondrial encephalomyopathies.
International Congress of EEG and Clinical Neurophysiology, Florence,
Italy. August 24-29, 1997.
Electroencephalography and Clinical Neurophysiology, 103, 1: 25; 1997.
82. Felisari G, Martinelli F, Turconi A, Comi GP, Lai M, Bardoni A, Salandi A, Bresolin N.
Possible pathogenetic role of Apodystrophin Dp140 lack in cognitive impairment of
DMD: review of forty-four macrodeleted patients.
50th Annual Meeting of the American Academy of Neurology. Minneapolis, MN,
USA, April 25-May 2, 1998
Neurology, 50, S4, A16, 1998.
83. Corti S, D'Angelo MG, Colucci M, Torrente Y, larovere A, Sironi E, Comi GP, Bresolin
N, Scarlato G.
An in vitro assay to study myoblast transendothelial migration.
50th Annual Meeting of the American Academy of Neurology. Minneapolis, MN,
USA, April 25-May 2, 1998
Neurology, 50, S4, A1283, 1998.
84. Torrente Y, D'Angelo MG, Colucci M, Corti S, Baldessari S, Basso V, DeLiso A, Comi
GP, Bresolin N, Scarlato G.
Myogenic potential of somite-derived cells.
50th Annual Meeting of the American Academy of Neurology. Minneapolis, MN,
USA, April 25-May 2, 1998
Neurology, 50, S4, A1284, 1998.
85. Colucci M, Ausenda CD, Torrente Y, DeLiso A, D'Angelo MG, Giorda R, Corti S,
Fortunato F, Comi GP, Bresolin N, Scarlato G.
Fibroblasts mediated gene transfer to skeletal muscle: in vivo induction of myogenesis
by a Tetracycline controlled promoter system.
50th Annual Meeting of the American Academy of Neurology. Minneapolis, MN,
Pag. 137 di
USA, April 25-May 2, 1998
Neurology, 50, S4, A325, 1998.
86.
Bozzali M, Rango M, Prelle A, Comi G, Scarlato G, Bresolin N.
Brain activation in patients with mitochondrial disease without central nervous system
involvement: a 31 P Magnetic Resonance Spectroscopy study.
50th Annual Meeting of the American Academy of Neurology. Minneapolis, MN,
USA, April 25-May 2, 1998
Neurology, 50, S4, A22, 1998.
87.
Silani V, Brioschi A, Rango M, Bozzali M, Moggio M, Prelle A, Comi G, Gellera C,
Cappellari A, Commola A, Braga M, Pellegrini G, Checcarelli N, Scarlato G.
A sporadic case of amyotrophic lateral sclerosis-parkinsonism.
8th Meeting of the European Neurological Society, Nice, France, 6-10 June 1998
Journal of Neurology, 245, 346, 1998.
88.
Sciacco M, Prelle A, Comi GP, Messina S, Ciscato P, Carpo M, Nobile-Orazio E,
Fortunato F, Mora G, Bignotti V, Fagiolari G, Scarlato G, Moggio M.
An atypical case of desminopathy with abnormal expression of cyclin-dependent
kinases.
8th Meeting of the European Neurological Society, Nice, France, 6-10 June 1998
Journal of Neurology, 245, 369, 1998.
89.
Felisari G, Martinelli F, Turconi AC, Salandi A, Bardoni A, Lai M, Robotti M, Comi
GP, Bresolin N.
High incidence of mental retardation in Duchenne Muscular Dystrophy patients
deleted in the distal domain of the gene: effect of unexpressed Dp140 Apodystrophin?
8th Meeting of the European Neurological Society, Nice, France, 6-10 June 1998
Journal of Neurology, 245, 391, 1998.
90.
Corti S, Bordoni A, Comi GP, Bresolin N, Toscano A, Agennouz M, Tancredi L,
Moggio M, Scarlato G.
Mutation analysis of carnitine palmytoiltransferase (CPT) II gene in patients with
decreased muscle CPT activity.
8th Meeting of the European Neurological Society, Nice, France, 6-10 June 1998
Journal of Neurology, 245, 423, 1998.
91.
Corti S, D'Angelo MG, Colucci M, Torrente Y, Larovere A, Perini MP, Salani S,
Sironi M, Comi GP, Bresolin N, Scarlato G.
Myoblast transendothelial migration: an in vitro assay.
8th Meeting of the European Neurological Society, Nice, France, 6-10 June 1998
Journal of Neurology, 245, 423, 1998.
92.
D'Angelo MG, Torrente Y, Corti S, Colucci M, Del Bo R, Basso V, Strazzer S,
DeLiso A, Comi GP, Bresolin N, Scarlato G
Somite-derived cell lines: myogenic potential in myoblast mediated gene therapy of
Duchenne Muscular Dystrophy.
8th Meeting of the European Neurological Society, Nice, France, 6-10 June 1998
Journal of Neurology, 245, 423, 1998.
93
Tancredi L, Prelle A, Battistel A, L, Sciacco M, Comi GP, Ciscato P, Bordoni A,
Fortunato F, Colucci M, Fagiolari G, Conti E, Bazzi P, Bresolin N, Scarlato G,
Pag. 138 di
Moggio M..
Retrospective study of a large patient population. with asymptomatic or
paucisymptomatic elevation of serum creatine kinase levels.
8th Meeting of the European Neurological Society, Nice, France, 6-10 June 1998
Journal of Neurology, 245, 426 , 1998.
94.
Kaukonen J., Zeviani M., Comi G., Piscaglia M.G., Peltonen L., Soumalainen A.
Identification of the third autosomal locus predisposing to multiple deletions of
mitochondrial DNA.
The American Society of Human Genetics. 48th Annual Meeting,
Denver, Colorado. November , 1998.
The American Journal of Human Genetics, 63, 4, A31, 1998.
95.
Sironi M., Robotti M., Bardoni A., Felisari G., Comi G. Bresolin N.
Expression of brain and Purkinje-cell dystrophin isoforms in 22 patients affected by
dystrophinopathies
51tsAnnual Meeting of the American Academy of Neurology. Toronto, Ontario,
Canada, April 17-24, 1999
Neurology, 52, S2, A96, 1999.
96.
Bardoni A., Sironi M., Felisari G., Lai M., Comi G. Bresolin N.
Association of mental retardation and deletions including Dp140 regulatory sequences
in Duchenne and Becker Muscular Dystrophies
51tsAnnual Meeting of the American Academy of Neurology. Toronto, Ontario,
Canada, April 17-24, 1999
Neurology, 52, S2, A95, 1999.
97.
Tancredi L., Prelle A., Chiveri L., Comi G.P., Battistel A., Sciacco M., Bazzi P.,
Ciscato P., Fortunato F., Bordoni A., Napoli L., Scarlato G
Persistent hyperCKemia: findings in a karge population of asymptomatic or
paucisymptomatic patients.
51tsAnnual Meeting of the American Academy of Neurology. Toronto, Ontario,
Canada, April 17-24, 1999
Neurology, 52, S2, A451, 1999.
98. Perini M.P., Napoli L., Bordoni A., Comi G.P., Toscano A., Aguennouz M., sciacco M.,
Strazzer S., Prelle A., Martinuzzi A., Scarlato G.
Intrafamilial variability of infantile mitochondrial DNA depletion
Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy
Journal of Neurology, 246:167, 1999.
99. Sironi M., Bardoni A., Robotti M., Felisari G., Comi G.P., Bresolin N.
Up-regulation of dystrophin brain and Purkinje cell isoforms in skeletal muscle of BMD
and DMD patients.
Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy
Journal of Neurology, 246:18, 1999.
100.Bardoni A., Sironi M., Felisari G., Lai M., Comi G.P., Bresolin N.
Cognitive impairment and deletion of Dp140 regulatory region in dystrophinopathies.
Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy
Pag. 139 di
Journal of Neurology, 246:20, 1999.
101.Sciacco M., Napoli L., Prelle A., Comi G., Chiveri L., Fagiolari G., Bordoni A.,
Scarlato G., Moggio M.
Frequency of specificclinical features and laboratory alterations in mitochondrial DNA
disorders: a 207 patient survey.
Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy
Journal of Neurology, 246:20-21, 1999.
102.Tiranti V., Galimberti C., Carrara F., Lamantea E., Hoffmann S. Meitinger T., Bertini
E., Comi G.P., Uziel G., Zeviani M.
Mutations of SURF-1 gene in cytochrome c oxidase deficiency.
Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy
Journal of Neurology, 246:43-44, 1999.
103.Del Bo R., Torrente Y., Corti S., Salani S., D'Angelo M.G., Comi G.P., Bresolin N.,
Scarlato N.
Myogenic conversaaion of NIH 3T3 cells by a tetracycline controlled system in vitro
and in vivo studies.
Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy
Journal of Neurology, 246:140, 1999.
104.C.Galimberti, V. Tiranti., G.P. Comi, A. Bordoni, P. Corona, M. Zeviani
A second chromosomal locus for Leigh Syndrome associated with cytochrome C
oxidase deficiency.
Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy
Journal of Neurology, 246:162, 1999.
105.Perini M.P., Napoli L., Bordoni A., Comi G.P., Toscano A., Agennouz M., Sciacco M.,
Strazzer S., Prelle A., Martinuzzi A., Scarlato G.
Intrafamilial variability in infantile mithocondrial DNA depletion
Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy
Journal of Neurology, 246:167, 1999.
106.G.P. Comi, Lucchiari S., Bordoni A., Shen J, Chen Y.T., Hadjigeorgiou GM, Toscano
A., Scarlato G.
Mutation analysis of amylo-1,6 glucosidase, 4-alpha-glucanotransferase gene in
glycogen storage disease type III A patients.
Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy
Journal of Neurology, 246:167, 1999.
107.Prelle A., Tancredi L., Chiveri L., Comi G.P., Sciacco M., Battistel A., Ciscato P.,
Bordoni A., Fortunato F., Napoli L., Scarlato G., Moggio M.
Persistent hyperckemia: final report of a study of a large population of a asyntomatic or
paucisyntomatic patients.
Ninth Meeting of the European Neurological Society, 5-9 June, 1999, Milan, Italy
Journal of Neurology, 246:167, 1999.
108. Perini M.P., Strazzer S., Napoli L., Comi G.P., Bordoni A., Fortunato F., Toscano A.,
Prelle A:, Martinuzzi A., Bresolin N., Scarlato G.
Is Mitochondrial DNA depletion always of nuclear origin? A cybrid study.
Pag. 140 di
52nd Annual Meeting of the American Academy of Neurology. San Diego, CA, USA,
May 1-7, 2000
Neurology, 53, 269-270; 2000.
109. Fagiolari G., Sciacco M., Bazzi P., Messina M., Lamperti C., Napoli L., Prelle A., Comi
G.P., Bresolin N., Chiveri L., Scarlato G.
Apoptosis in mitochondrial encephalomyopathies.
52nd Annual Meeting of the American Academy of Neurology. San Diego, CA, USA,
May 1-7, 2000
Neurology, 53, 181, 2000.
110. Corti S., Martinuzzi A., Comi G.P., Locatelli F., Salani S., Fortunato F., Angelini C.,
Bresolin N., Scarlato G.
Analysis of dystrophin expression in aminoglycoside treated myotubes of Duchenne Muscular
Dystrophy patients.
Tenth Meeting of the European Neurological Society, 18-22 June 2000, Jerusalem Israel.
Journal of Neurology, 247 (S3): 42, 2000.
111.
Lucchiari S., Comi G.P., Bordoni A., Fogh I., Bresolin N., Scralato G.
Molecular basis of glycogen storage disease type III.
Tenth Meeting of the European Neurological Society, 18-22 June 2000, Jerusalem Israel.
Journal of Neurology, 247 (S3): 42, 2000.
112. Sironi M., Felisari G., Bardoni A., Cagliani R., Fortunato F., Prelle A., Tancredi L.,
Bonaglia M.C., Pozzoli U., Bresolin N., Comi G.P.
Tenth Meeting of the European Neurological Society, 18-22 June 2000, Jerusalem Israel.
Journal of Neurology, 247 (S3): 43, 2000.
113. Torrente Y., Fagiolari G., Gallanti A., Lamperti C., Salani S., Pisati F., Corti S., Comi G.P.,
Moggio M., Bresolin N., Scralato G.
Apoptosis in myoblast transplantation.
Tenth Meeting of the European Neurological Society, 18-22 June 2000, Jerusalem Israel.
Journal of Neurology, 247 (S3): 121, 2000.
114. Comi G., Sironi M., Fortunato F., Giorda R., Bardoni A., Moggio M., Tancredi L., Bresolin
N.
Primary beta-sarcoglycanopathy manifesting as recurrent myoglobinuria induced by muscle
exercise.
Tenth Meeting of the European Neurological Society, 18-22 June 2000, Jerusalem Israel.
Journal of Neurology, 247 (S3): 122-123, 2000.
115.. Corti S., Strazzer S., Del Bo R., Salani S., D'Angelo M.G., Comi G.P., Bresolin N., Scarlato
G.
Chemotaxis of myogenic cells across endothelial monolayer.
Atti congresso "Molecular Biology of Muscle Development and Disease", Pacific Grove,
California, 21-26 maggio 2000, p. 12.
116. Torrente Y., D'Angelo M.G., Li Z., Del Bo R., Corti S., Mericskay M., DeLiso A., Fassati A.,
Pisati F., Belicchi M., Paulin D., Comi G.P., Scarlato G., Bresolin N.
Pag.of141 di
Transplacental injection of somite-derived cells in mdx mouse embryos for the correction
dystrophin deficiency.
Atti congresso "Molecular Biology of Muscle Development and Disease", Pacific Grove,
California, 21-26 maggio 2000. p. 5
117. Sironi M., Bardoni A., Felisari G., Cagliani R., Robotti M., Comi G.P., Bresolin N.
Transcriptional activation of the non muscle full-length dystrophin isoforms in Duchenne
Muscular Dystrophy muscle.
Atti congresso "Molecular Biology of Muscle Development and Disease", Pacific Grove,
California, 21-26 maggio 2000. p. 18
118. D'Angelo M.G., torrente Y., Corti S., Pisati M., Belicchi M., Turconi A.C., Comi G.P.,
Bresolin N.
The role of innervation in a mouse "in vitro" model of merosin negative congenital muscular
dystrophy.
Atti congresso "Molecular Biology of Muscle Development and Disease", Pacific Grove,
California, 21-26 maggio 2000. p. 26
119. G.P. Comi, F. Fortunato, S. Lucchiari, A. Bordoni, A. Prelle, S. Jann, A. Keller, P. Ciscato, S.
Galbiati, L.
Chiveri, Y. Torrente, G. Scarlato, N. Bresolin
Beta-Enolase Deficiency, a New Metabolic Myopathy of Distal Glycolysis
53rd Annual Meeting of the American Academy of Neurology. Philadelphia, PA, USA,
May 6-13, 2001
Neurology, 2001.
120. R. Del Bo, G.P. Comi, M. P. Perini, S. Strazzer, N. Bresolin, G. Scarlato
Down Syndrome Fibroblasts Anticipate the Accumulation of Specific Age-Related
Mutations in Mitochondrial DNA Control Region
53rd Annual Meeting of the American Academy of Neurology. Philadelphia, PA, USA,
May 6-13, 2001
121.Napoli L., Bordoni A., Comi G.P., Zeviani N., Terentiou A., Sciacco M., Tiranti V., Prelle A.,
Moggio M., Papadimitriou A., Scarlato G.
Novel missense mutation of ANT1 gene in autosomal dominant progressive external
ophthalmoplegia.
Eleventh Meeting of the European Neurological Society, 21-25 April 2001, Paris, France
Journal of Neurology, 248: 40, 2001
122. Sironi M., Pozzoli U., Cagliani R., Comi G.P., Bardoni A., Bresolin N.
Relevance of splicing determinants in the dystrophin gene for physiological and pathogenetic
splicing mechanisms.
Eleventh Meeting of the European Neurological Society, 21-25 April 2001, Paris, France
Journal of Neurology, 248: 58, 2001
123. D'Angelo M.G., Libera L., Cagliani R., Benti S., Comi G., Fabbro F., Turconi A., Bresolin N.
Cognitive impairment and -sarcoglycan.
Eleventh Meeting of the European Neurological Society, 21-25 April 2001, Paris, France
Journal of Neurology, 248: 90-91, 2001
124.Del Bo R., Comi G.P., Sciacco M., Napoli L., Bresolin N., Scarlato G.
Specific ageing-related mutations in the human mtDNA control region from normal muscles: a
single-fiber study.
Eleventh Meeting of the European Neurological Society, 21-25 April 2001, Paris, France Pag. 142 di
Journal of Neurology, 248: 91, 2001
125.Cagliani R., Comi G.P., Felisari G., Sironi M., Tancredi L., Prelle A., Fortunato F., Moggio
M., D'Angelo M.G., Scarlato G.
Heart involvement in primary alpha-sarcoglycanopathy
Eleventh Meeting of the European Neurological Society, 21-25 April 2001, Paris, France
Journal of Neurology, 248: 91, 2001
126.Strazzer S., Corti S., Comi G.P., Del Bo R., Salani S., Fortunato F., Bresolin N., Scarlato G.
Expression of muscle specific genes in mice bone marrow cells.
Eleventh Meeting of the European Neurological Society, 21-25 April 2001, Paris, France
Journal of Neurology, 248: 91-92, 2001
127. Sciacco M., Fagiolari G., Lamperti C., Prelle A., Chiveri L., Comi G.P., Bordoni A.,
Perini M.P., Scarlato G., Moggio M.
Lack of apoptosis in muscle tissue of patients with mutations of the Adenine Nucleotide
Translocator 1 gene.
Eleventh Meeting of the European Neurological Society, 21-25 April 2001, Paris, France
Journal of Neurology, 248: 181, 2001
128.Perini MP, Sciacco M.,Galbiati S, Bordoni A, Lamperti C., Comi GP, Moggio M, Messina S.
Bresolin N, Scarlato G
A late onset multisystem disorder with muscle mitochondrial DNA depletion
Euromit Meeting. Venice San Servolo, September 20-23, 2001.
129. Del Bo R., Sciacco M., Crimi M., Napoli L., Bresolin N., Scarlato G., Comi G.P.
Somatic ageing-related mutations in the human mtDNA control region from normal muscles: a
single-fiber study
Euromit Meeting. Venice San Servolo, September 20-23, 2001.
130. Comi G.P., Napoli L., Bordoni A., Zeviani M., Terentiou A., Sciacco M., Tiranti L., Prelle A.,
Perini M.P., Papadimitriou A., Scarlato G.
Novel missense L98P mutation of ANT1 gene in a Greek AD-PEO family
Euromit Meeting. Venice San Servolo, September 20-23, 2001.
131. Spelbrink J.N., Li F-Y., Tiranti, V., Nikali, K., Yuan, O-P., Tariq, M., Wanrooij S., Garrido
N., Comi G., Morandi L., Santoro L., Toscano A., Fabrizi G-M., Somer H., Croxen R., Beeson
D., Poulton J., Suomalainen A., Jacobs H.T., Zeviani M., Larsson C.
MtDNA instability caused by mutations in Twinkle, a novel human protein with similarity to
phage T7 DNA primase/helicase
Euromit Meeting. Venice San Servolo, September 20-23, 2001
132. Sciacco M., Comi G.P., Rango M., Prelle A., Lamperti C., D’Adda E., Perini M.P., Bordoni
A., Galbiati S., Scarlato G., Moggio M
Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the
same generation: a morphologic, genetic, and spectroscopic study
Euromit Meeting. Venice San Servolo, September 20-23, 2001.
133. Prelle A, Fagiolari G, Sciacco M, Lamperti C, Chiveri L, Comi GP, Bordoni A, Perini MP,
Scarlato G and Moggio M
Pag. 143 di
No evidence of apoptosis in skeletal muscle tissue of PEO patients with mutations in the
Adenine Nucleotide Translocator 1 gene
Euromit Meeting. Venice San Servolo, September 20-23, 2001.
134. Corti S., Locatelli F., Strazzer S., Salani S., Del Bo R., Soligo D., Bossolasco P., Bresolin N.,
Scarlato G., Comi G.P.
Modulated generation of neuronal cells from bone marrow by expansion and
mobilization of circulating stem cells with in vivo cytokine treatment.
54th Annual Meeting of American Academy of Neurology, Denver, 13-20 aprile 2002.
Neurology, vol. 58, N° 7, Suppl. 3, A31, 2002.
135. Corti S., Locatelli F., Strazzer S., Salani S., Del Bo R., Soligo D., Bossolasco P.,
Bresolin N., Scarlato G., Comi G.P.
Modulated generation of neuronal cells from bone marrow by expansion and mobilitazion of
circulating stem cells with in vivo cytokine treatment.
12° Meeting of the European Neurological Society, Berlino, 22-26 giugno 2002.
Journal of Neurology, vol. 249, Suppl. 1, pp. 91, 2002.
136. Del Bo R., Comi G.P., Giorda R., Crimi M., Locatelli F., Martinelli-Boneschi F., Pozzoli U.,
Castelli E., Bresolin N., Scarlato G.
The 129 codon polymorphism of the prion protein gene influences cognitive performance in
Down Syndrome subjects.
12° Meeting of the European Neurological Society, Berlino, 22-26 giugno 2002.
Journal of Neurology, vol. 249, Suppl. 1, pp. 103, 2002.
137.
M. Sironi, R. Cagliani, A. Bardoni, G.P. Comi, U. Pozzoli, N. Bresolin.
Alternative splicing of the dystrophin rod-domain in normal human tissues and in DMD/BMD
skeletal muscle
12° Meeting of the European Neurological Society, Berlino, 22-26 giugno 2002.
Journal of Neurology, vol. 249, Suppl. 1, pp. 87, 2002.
138. S. Salani, S. Lucchiari, F. Fortunato, F. Locatelli, S. Corti, M. Crimi, N. Bresolin, G. Scarlato,
G.P. Comi
Dysferlin expression pattern in human primary muscle cultures
12° Meeting of the European Neurological Society, Berlino, 22-26 giugno 2002.
Journal of Neurology, vol. 249, Suppl. 1, pp. 88, 2002.
139. R. Cagliani, M. Sironi, A. Toscano, S. Lucchiari, F. Fortunato, A. Prelle, L. Tancredi, S.
Salani, M. Sciacco, C. Zecca, G. Comi, N. Bresolin.
A novel splice-site mutation in a LGMD-2B family causing activation of a cryptic site and
total dysferlin absence.
12° Meeting of the European Neurological Society, Berlino, 22-26 giugno 2002.
Journal of Neurology, vol. 249, Suppl. 1, pp. 89, 2002.
140. M. Crimi, S. Galbiati, A. Bordoni, M. P. Perini, M. Monferini, M. Sciacco, I. Biunno, G.
Ferrari, M. Moggio, G. Scarlato, G. P. Comi
A novel mtDNA tRNA-tryptophan mutation in a severe neurodegenerative disorder with
progressive ataxia, dementia and axonal neuropathy.
12° Meeting of the European Neurological Society, Berlino, 22-26 giugno 2002.
Journal of Neurology, vol. 249, Suppl. 1, pp. 136, 2002.
Pag. 144 di
141. M. Crimi, S. Galbiati, A. Bordoni, S. Strazzer, G. Malferrari, M. Sciacco, I. Biunno, F.
Tiberio, N. Bresolin, G. Scarlato, G. P. Comi.
The first maternally-inherited mutation of mitochondrial tRNA-His gene results in retinitis
pigmentosa and neuro-sensorial hypoacusia
12° Meeting of the European Neurological Society, Berlino, 22-26 giugno 2002.
Journal of Neurology, vol. 249, Suppl. 1, pp. 137, 2002.
142.M.G. D'Angelo, F. Civati, D.M. Gallotti, C. Gagliardi, R. Cagliani, G.P. Comi, A.C. Turconi,
E. Castelli, N. Bresolin
Cognitive, neuropsychological and psychiatric features in myotonic dystrophy: clinical and
neuroimaging evaluation
12° Meeting of the European Neurological Society, Berlino, 22-26 giugno 2002.
Journal of Neurology, vol. 249, Suppl. 1, pp. 42, 2002
143. R. Cagliani, A. Gallanti, G. Comi, P. Ciscato, V. Cardin, S. Bonato, S. Galbiati, A. Prelle, S.
Corti, N. Bresolin, M. Moggio
A novel autosomal dominant CAV3 gene mutation results in both RMD and LGMD in the
same family.
12° Meeting of the European Neurological Society, Berlino, 22-26 giugno 2002.
Journal of Neurology, vol. 249, Suppl. 1, pp. 43, 2002
144. M. Sciacco, A. Prelle, L. Tancredi, G. Fagiolari, G.P. Comi, P. Ciscato, M. Serafini, F.
Fortunato, C. Zecca, A. Gallanti, L. Chiveri, N. Grimoldi, N. Bresolin, G. Scarlato, M. Moggio
Clinical and immunological correlations in patients with dysferlin deficiency
12° Meeting of the European Neurological Society, Berlino, 22-26 giugno 2002.
Journal of Neurology, vol. 249, Suppl. 1, pp. 171, 2002
145. Menni F., Comi G., Daccò V., Appiani A., Parini R.
Efficacy of indomethacin in the treatment of nephropathy of mitochondrial DNA disorder.
Society of Inborn Errors of Metabolism, Dublin, September 2002-11-03
Journal of Inherited Errors of Metabolism, 25(S1): 90, 2002
146.. Cagliani R., Gallanti A., Sironi M., Ciscato P., Cardin V., Bardoni A., Galbiati S., Chiveri
L., Corti S., Prelle A., Moggio M., Bresolin N., Comi G.P.
Coexistence of rippling muscle disease and limb girdle muscular dystrophy in a family with a
novel autosomal dominant caveolin 3 gene mutation7th Congress of the World Muscle Society, Rotterdam, NL.
Neuromuscular Disorders, 12, 722-723, 2002
147.Crimi M., Galbiati S., Bordoni A., Strazzer S., Sciacco M., Perini M.P., Tiberio F., Zecca C.,
Biunno I., Moggio M., Bresolin N., Scarlato G. Comi G.P.
Retinitis pigmentosa and neurosensorial hypoacusia caused by a maternallu-inherited mutation
of mitochondrial tRNA His gene.
7th Congress of the World Muscle Society, Rotterdam, NL.
Neuromuscular Disorders, 12, 729, 2002
148. Bardoni A., Sironi M., Cagliani R., Comi G.P., Pozzoli U. Bresolin N.
The dystrophin gene is alternatively spliced in both normal human tissues and DMD/BMD
skeletal muscle.
7th Congress of the World Muscle Society, Rotterdam, NL.
Pag. 145 di
Neuromuscular Disorders, 12, 754-755, 2002.
149.. Chiveri L., Gallanti A., Fratto P., Fortunato F., Grimoldi N., Lombardi F., Jann S., Comi
G.P., Prelle A., Scarlato G., Vitali E., Moggio M.
Cardiac and skeletal muscle involvement in a HIV seropositive converted patient.
7th Congress of the World Muscle Society, Rotterdam, NL.
Neuromuscular Disorders, 12, 772, 2002
150.
Cagliani R, Sironi M, Bardoni A, Fortunato F, Moggio M, Bresolin N, Comi G (2003). A
complex rearrangement in the DMD gene determines new exon inclusion and BMD phenotype.
NEUROMUSCULAR DISORDERS, vol. 13, p. 625-626, ISSN: 0960-8966
151 Crimi M., Papadimitriou A., Papadimitriou D., Bordoni A., Bresolin N., Comi G (2003). A
new mitochondrial rnutation in ND3 gene causing Leigh syndrome.. JOURNAL OF
NEUROLOGY, ISSN: 0340-5354
152 Crimi M., Papadimitriou A., Papadimitriou D., Bordoni A., Bresolin N., Comi G (2003). A new
mitochondrial rnutation in ND3 gene causing Leigh syndrome.. JOURNAL OF NEUROLOGY,
ISSN: 0340-5354
153 Corti S., Locatelli F., Guglieri M., Papadirnitriou D., Strazzer S., Salani S., Bendotti C., Comi
G (2003). BM derived stem cells contribute to CNS, heart and skeletal rnuscle regeneration in
SOD1G93Amice. . NEUROLOGY, ISSN: 0028-3878
154 Sironi M, Cagliani R, Pozzoli U, Elgar G, Riva L, Bresolin N, Bardoni A, Comi G (2003).
Comparative analysis of vertebrate dystrophin loci indicate intron gigantism as a common feature.
NEUROMUSCULAR DISORDERS, vol. 13, p. 626, ISSN: 0960-8966
155 D'Adda E., Lamperti C., Cagliani R., Ciscato P., Fagiolari G., Pelle A., Comi G, Bresolin N.,
Moggio M. (2003). Congenital muscular dystrophy and muscle inflammation. . JOURNAL OF
NEUROLOGY, ISSN: 0340-5354
156 Lamperti C, Cagliani R, Ciscato P, Lucchini V, Comi G, Fagiolari G, Prelle A, Bresolin N,
Moggio M, Parini MB (2003). Congenital muscular dystrophy presenting as inflammatory
myopathy. NEUROMUSCULAR DISORDERS, vol. 13, p. 656, ISSN: 0960-8966
157 Guidi I., Galimberti D., Fenoglio C., Del Bo R., Gatti A., Perego L., Cogiamaniall F., Tiriticco
M., Baron P., Conti G., Comi G, Bresolin N., Scarpini E. (2003). Endothelial nitric oxide synthase
gene polymorphism Glu298Asp and apolipoprotein E genotype in Alzheimer's disease. . JOURNAL
OF NEUROLOGY, ISSN: 0340-5354
158 Lucchiari S, Salani S, Fortunato F, Crimi M, Corti S, Locatelli F, Bossolasco P, Bresolin N,
Comi G (2003). Expression of a dysferlin isoform deleted of exon 17 in human primary cultures
and tissues. NEUROMUSCULAR DISORDERS, vol. 13, p. 649, ISSN: 0960-8966
159 Locatelli F., Corti S., Donadoni C., Moltesissa L., Guglieri M., Capra F., Strazzer S., Salani S.,
Del Bo R., Fortunato F., Bresolin N., Comi G (2003). Generation ofneural progenitors from murine
bone marrow.. JOURNAL OF NEUROLOGY, ISSN: 0340-5354
160 Sciacco M, Prelle A, D'Adda E, Fagiolari G, Ciscato P, Comi G, Jann S, Di Fonzo A, Crimi M,
Pag. 146 di
Bordoni A, Bresolin N, Moggio M (2003). Genetically documented CPT deficiency and
homoplasmic T3394C mtDNA mutation in a patient with myoglobinuria and ragged red fibers at
muscle biopsy. NEUROMUSCULAR DISORDERS, vol. 13, p. 641, ISSN: 0960-8966
161 Sciacco M., Prehe A., Comi G, Fagiolari G., Ciscato P., D'Adda E., Bordoni A., Di Fonzo A.,
Crimi M., Lann S., Bresolin N., Moggio M. (2003). Homoplasmic T3394C mtDNA mutation and
genetically documented CPT deficiency in a patient with myoglobinuria and ragged red fibers at
musde biopsy. . JOURNAL OF NEUROLOGY, ISSN: 0340-5354
162 Sciacco M., Prelle A, D'Adda E., Ciscato P., Fagiolari G., Jann S., Comi G, Crirni M., Di
Fonzo A, Bordoni A., Bresolin N., Moggio M. (2003). Homoplasrnic T3394C rntDNA mutation
and genetically documented CPT deficiency in a patient with rnyoglobinuria and evidence ofragged
red fibers at muscle biopsy. . JOURNAL OF NEUROLOGY, ISSN: 0340-5354
163 Di Fonzo A., Bordoni A., Galbiati S., Crimi M., Comi G (2003). Mitochondrial DNA
polyrnerase yA gene rnutations in sporadic progressive external ophthalrnoplegia with multiple
rntDNA deletions. . NEUROLOGY, ISSN: 0028-3878
164 Crimi M., Galbiati S., Bordoni A., Sciacco M., Bresolin N., Comi G (2003). Mitochondrial
genome-wide screening in mitochondrial encephalomyopathies without cornmon mutation. .
NEUROLOGY, ISSN: 0028-3878
165 Musumeci O., Aguennouz M., Cagliani R., Comi G, Messina C., Migliorato A., Tiranni A.,
Messina C., Vita G., Toscano A. (2003). Muscle calpain-3 deficiency in quail eater's disease..
NEUROLOGY, ISSN: 0028-3878
166 Del Bo R., Baron P., Prehe A., Serafini M., Moggio M., Di Fonzo A., Bresolin N., Comi G
(2003). Novel rnissense rnutations and large deletion ofGNE gene in two Italian families with
autosornal recessive IBM. . JOURNAL OF NEUROLOGY, ISSN: 0340-5354
167 Gironi M., Lamperti C., Nemni R., Moggio M., Comi G, Guerini F., Ferrante P., Canal N.
(2003). The first case of familiallate-onset cerebellar ataxia with hypogonadism associated with
coenzyme QI0 deficiency.. NEUROLOGY, ISSN: 0028-3878
168 D'Angelo MG, Tonelli A, Redaelli E, Guglieri M, Fortunato F, Turconi AC, Sciacco M, Comi
G, Bresolin N, Bassi MT (2004). A novel mutation in the paraplegin gene in a family with
autosomal recessive HSP. JOURNAL OF NEUROLOGY, vol. 251, p. 188, ISSN: 0340-5354
169 Corti S, Locatelli F, Guglieri M, Papadimitriou D, Salani S, Strazzer S, Del Bo R, Fortunato F,
Comi G (2004). A subpopulation of human peripheral blood cells develops nestin-positive sphere
structures and expresses neuronal markers. NEUROLOGY, vol. 62, p. A458, ISSN: 0028-3878
170 Scarlato M, Carpo M, Previtali S, Allaria S, Pareyson D, Briani C, Casellato C, Nobile-Orazio
E, Comi G, Bresolin N, Quattrini A (2004). Angiogenic factors, VEGF and EPO, in POEMS
syndrome. NEUROLOGY, vol. 62, p. A342, ISSN: 0028-3878
171 Guglieri M, Civati E, Cagliani R, D'Angelo MG, Fortunato F, Moggio M, Turconi AC, Comi
G, Bresolin N (2004). Brain involvement in the limb girdle muscular dystrophies. JOURNAL OF
NEUROLOGY, vol. 251, p. 174, ISSN: 0340-5354
172 Galimberti D, Guidi I, Venturelli E, Gatti A, Fenoglio C, Del Bo R, Lovati C, Galbarti S, Comi
Pag. 147 di
G, Mariani C, Forloni G, Baron P, Conti G, Bresolin N, Scarpini E (2004). Glu298ASP
polymorphism of the e-NOS gene and homocysteine levels in patients with Alzheimer's disease and
vascular dementia. NEUROBIOLOGY OF AGING, vol. 25, p. S492, ISSN: 0197-4580, doi:
10.1016/S0197-4580(04)81623-3
173 Sciacco M, Fruguglietti E, Lucchini V, Zecca C, Lamperti C, Galbiati S, Tiberio F, Comi G,
Bresolin N, Moggio M, Prelle A (2004). Idiopathic hyperckemia: follow-up of a large population of
asymptomatic/oligosymptomatic patients. JOURNAL OF NEUROLOGY, vol. 251, p. 83, ISSN:
0340-5354
174 Del Bo R, Scarlato M, Ghezzi S, Casellato C, D'Adda E, Prelle A, Nobile-Orazio E, Bresolin
N, Comi G (2004). Lack of association between VEGF gene promoter variability and sporadic
ALS. JOURNAL OF NEUROLOGY, vol. 251, p. 154, ISSN: 0340-5354
175 Civati F., Guglieri M., D'Angelo M.G., Tavano A., Fabbro F., Lorusso M.L., Sironi M.,
Turconi A.C., Comi G, Bresolin N. (2004). Language disorders in Duchenne's muscular dystrophy..
JOURNAL OF NEUROLOGY, ISSN: 0340-5354
176 Corti S, Locatelli E, Papadimitriou D, Donadoni C, Guglieri M, Salani S, Strazzer S, Del Bo R,
Comi G (2004). Migration and differentiation of neural stem cells into NMD mice, an animal model
of spinal muscular atrophy. JOURNAL OF NEUROLOGY, vol. 251, p. 54-55, ISSN: 0340-5354
177 Del Bo R., Ghezzi S., Bordoni A., Crimi M., Galbiati S., Sciacco M., Virgilio R., Lucchini V.,
Bresolin N., Comi G (2004). Molecular and cellular distribution of mtDNA control region
mutations in POLGI/PEO patients.. JOURNAL OF NEUROLOGY, ISSN: 0340-5354
178 Galbiati S, Papadimitriou D, Bordoni A, Crimi M, Katsarou E, Garoufi A, Bresolin N,
Papadimitriou A, Comi G (2004). New mutation in thymidine kinase 2 gene associated with
mitochondrial encephalomyopathy. JOURNAL OF NEUROLOGY, vol. 251, p. 173, ISSN: 03405354
179 Scarlato M., Carpo M., Orsi E., Gangi E., Nobile Orazio E., Comi G, Bresolin N. (2004).
Vascular endothelial growth factor serum concentration and diabetic neuropathy.. JOURNAL OF
NEUROLOGY, ISSN: 0340-5354
180 Locatelli F., Corti S., Papadimitriou D., Donadoni C., Crimi M., Del Bo R., Bordoni A.,
Strazzer S., Salani S., Bresolin N., Comi G (2005). ALDH neural stem cells generate motor neurons
and ameliorate the phenotype of nmd mice, an animal model of SMARD1. NEUROLOGICAL
SCIENCES, ISSN: 1590-1874
181 Locatelli F., Corti S., Papadimitriou D., Donadoni C., Crimi M., Del Bo R., Bordoni A.,
Strazzer S., Salani S., Bresolin N., Comi G (2005). ALDH positive neural stem cells generate motor
neurons and promote functional recovery in NMD mice, an animal model of SMARD1. .
JOURNAL OF NEUROLOGY, ISSN: 0340-5354
182 Locatelli F, Corti S, Papadimitriou D, Donadoni C, Crimi M, Del Bo R, Bordoni A, Strazzer S,
Salani S, Bresolin N, Comi G (2005). Aldehyde dehydrogenase positive neural stem cells generate
motor neurons and promote functional recovery in an animal model of Spinal Muscular Atrophy
with Respiratory Distress type 1.. JOURNAL OF NEUROLOGY, ISSN: 0340-5354
Pag. 148 di
183 Del Bo R, Scarlato M, Ghezzi S, Martinelli-Boneschi F, Fenoglio C, Galbiati S, Virgilio R,
Galimberti D, Galimberti G, Crimi M, Ferrarese C, Scarpini E, Bresolin N, Comi G (2005).
Association between VEGF gene and sporadic Alzheimer's disease. NEUROLOGY, vol. 64, p.
A415, ISSN: 0028-3878
184 Saccomanno D., Scarlato M, Comi G, Bresolin N., Carpo M. (2005). Atypical anti-neuronal
reactivity in neurological disorders: could have another role besides being paraneoplastic?.
NEUROLOGICAL SCIENCES, ISSN: 1590-1874
185 Guglieri M., Magri F., Cagliani R., D'Angelo M.G., Prelle A., Fortunato F., Lucchiari S., Salani
S., Del Bo R., Bordoni A., Ghezzi S., Zecca C., Lamperti C., Moggio M., Bresolin N., Comi G
(2005). Autosomal dominant and recessive limb-girdle muscular dystrophies: relative frequency in
a large Italian population.. JOURNAL OF NEUROLOGY, ISSN: 0340-5354
186 Cagliani R, Magri F, Toscano A, Merlini L, Fortunato F, Lamperti C, Rodolico C, Prelle A,
Sironi M, Aguennouz M, Ciscato P, Uncini A, Moggio M, Bresolin N, Comi G (2005).
Dysferlinopathies: muscle annexin A1 and A2 expression levels correlate with clinical phenotype in
a large group of genetically diagnosed patients. . JOURNAL OF NEUROLOGY, ISSN: 0340-5354
187 Musumeci O., Bordoni A., Aguennouz M., Rodolico C., Autunno M., Cianci V., Vita G.,
Taroni F., Comi G, Toscano A. (2005). Fatal R631C mutation is also present in the adult form of
CPTII deficiency. JOURNAL OF NEUROLOGY, ISSN: 0340-5354
188 Locatelli F., Corti S., Papadimitriou D., Donadoni C., Del Bo R., Fortunato F., Strazzer S.,
Salani S., Bresolin N., Comi G (2005). Multipotentiality, homing properties and neurogenesis of
CNS-derived LeX(sssea-1)+/CXCR4+ stem cells. . NEUROLOGY, ISSN: 0028-3878
189 Del Bo R., Ghezzi S., Locatelli F., Scarlato M., Corti S., Prelle A., Fagiolari G., Ripolone M.,
Moggio M., Carpo M., Bresolin N., Comi G (2005). Novel missense GARS gene mutation in an
Italian family with hereditary distal motor neuropathy. . JOURNAL OF THE PERIPHERAL
NERVOUS SYSTEM, ISSN: 1085-9489
190 Di Fonzo A., Ghione I., Del Bo R., Saladino F., Rango M., Bresolin N., Comi G (2005).
PARK2 gene variability in idiopathic Parkinson’s disease. . PARKINSONISM & RELATED
DISORDERS, ISSN: 1353-8020
191 Ghione I., Rango M., Di Fonzo A., Del Bo R., Saladino F., Bresolin N., Comi G (2005).
PARK2 gene variability in idiopathic Parkinson’s disease. . NEUROLOGICAL SCIENCES, ISSN:
1590-1874
192 Papadimitriou D, Corti S, Locatelli F, Donadoni C, Del Bo R, Fortunato F, Strazzer S, Salani S,
Bresolin N, Comi G (2005). Pyramidal cells generation from multipotent CNS-derived LeX(ssea1)+/CXCR4+ stem cells. JOURNAL OF NEUROLOGY, vol. 252, p. 66, ISSN: 0340-5354
193 Virgilio R., Russo A., Guglieri M., Marchi E., D’Angelo M.G., Turconi A.C., Comi G,
Bresolin N. (2005). Respiratory function in Duchenne Muscular Dystrophy: an Italian casistic..
NEUROLOGICAL SCIENCES, ISSN: 1590-1874
Pag. 149 di
194 Saladino F., Scarlato M., Carpo M., Bordoni A., Nobile-Orazio E., Bresolin N., Comi G
(2005). Survival motor neuron (SMN1 and SMN2) genes copy number in multifocal motor
neuropathy.. NEUROLOGICAL SCIENCES, ISSN: 1590-1874
195 Scarlato M, Briani C, Zara G, Doria A, Malaguti MC, Previtali SC, Carpo M, Del Bo R, Comi
G, Quattrini A (2005). Thalidomide-induced neuropathy is a distal axonopathy not due to VEGF
inhibition. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, vol. 10, p. 82, ISSN: 10859489
196 Guglieri M., Magri F., D'angelo M.G., Cagliani R., Bordoni A., Ronchi D., Grezzi S., Del Bo
R., Prelle A., Moggio M., Mongini T., Mora M., Turconi A.C., Bresolin N., Comi G (2005). The
limb girdle muscular dystrophies: clinical, biochemical and genetic evaluation of a large Italian
population. . NEUROLOGICAL SCIENCES, ISSN: 1590-1874
197 Corti S, Locatelli F, Papadimitriou D, Donadoni C, Crimi M, Del Bo R, Bordoni A, Strazzer S,
Salani S, Bresolin N, Comi G (2005). Transplantation of ALDH expressing neural stem cell
subpopulation derived from spinal cord into Nmd mice, an animal model of SMARD1.
NEUROLOGY, vol. 64, p. A74-A75, ISSN: 0028-3878
198 Scarlato M., Briani C., Zara G., Doria A., Previtali S.C., Carpo M., Del Bo R., Comi G,
Quattrini A. (2005). VEGF and BFGF modulation are not involved in thalidomide-induced
neuropathy. . NEUROLOGICAL SCIENCES, ISSN: 1590-1874
199 Del Bo R, Ghezzi S, Locatelli F, Scarlato M, Corti S, Prelle A, Fagiolari G, Ripolone M,
Moggio M, Carpo M, Bresolin N, Comi G (2005). Novel missense GARS gene mutation in an
Italian family with hereditary distal motor neuropathy.. JOURNAL OF THE PERIPHERAL
NERVOUS SYSTEM, ISSN: 1085-9489
200 Del Bo R., Guglieri M., D’Angelo M.G., Ghezzi S., Magri F., Napoli L., Prelle A., Turconi
A.C., Moggio M., Bresolin N., Comi G (2006). Autosomal recessive myopathy inclusion bodies
caused by GNE gene mutations. . JOURNAL OF NEUROLOGY, ISSN: 0340-5354
201 Guglieri M., Magri F., Cagliani R., D’Angelo M.G., Prelle A., Fortunato F., Del Bo R., Ghezzi
S., Zecca C., Lamperti C., Morandi L., Mora M., Moggio M., Bresolin N., Comi G (2006).
Dysferlinopathies: clinical and genetic correlation in a large population. . NEUROLOGICAL
SCIENCES, ISSN: 1590-1874
202 Del Bo R., Ghezzi S., Scarlato M., Corti S., Locatelli F., Santoro D., Prelle A., Briani C.,
Nardini M., Siciliano G., Mancuso M., Murri L., Bresolin N., Comi G (2006). Lack of association
between angiogenin VEGF gene variation and ALS in Italian patients. . CLINICAL
NEUROPATHOLOGY, ISSN: 0722-5091
203 Daniele N., Milic A., Bartoli M., Lochmuellera H., Mora M., Comi G, Moggio M., Noulet F.,
Poupiot J., Richard I. (2006). Measuring calpain 3 proteolytic activity using an in vitro substrate..
NEUROMUSCULAR DISORDERS, ISSN: 0960-8966
204 Martinuzzi A., Rossetto M.G., Crippa F., Panzeri C., Musumeci O., Vazza G., Toscano A.,
Comi G, D’Angelo G., Mostacciuolo M.L., Trevisan C.P., Siciliano G., Meola G., Profice P., Daga
A., Pandolfo M., Bresolin N., Bassi M.T. (2006). Molecular and clinical characterization of a large
cohort of Italianpatients with Hereditary Spastic Paraplegia (HSP). NEUROMUSCULAR
Pag. 150 di
DISORDERS, ISSN: 0960-8966
205 Roche C., Di Fonzo A., Del Bo R., Van Unen L., Hoogeveen A., de Graaff E., Bredveld G.,
Scarlato M., Oostra B., Comi G, Bonifati V. (2006). Mutational analysis of the DJ-1 gene in
sporadic patients with amyotrophic lateral sclerosis. EUROPEAN JOURNAL OF HUMAN
GENETICS, ISSN: 1018-4813
206 Roche C., Di Fonzo A., Del Bo R., Van Unen L., Hoogeveen A., de Graaff E., Bredveld G.,
Scarlato M., Oostra B., Comi G, Bonifati V. (2006). Mutational analysis of the DJ-1 gene in
sporadic patients with amyotrophic lateral sclerosis. . EUROPEAN JOURNAL OF HUMAN
GENETICS, ISSN: 1018-4813
207 Papadimitriou D., Corti S., Locatelli F., Donadoni C., Salani S., Del Bo R., Strazzer S.,
Nizzardo M., Nardini M., Bresolin N., Comi G (2006). Neural stem cell population deriving from
SOX2-dependent dedifferentiated human astrocytes as possible cell source for cell mediated
therapy in neurodegenerative diseases. . NEUROLOGICAL SCIENCES, ISSN: 1590-1874
208 Magri F., Scarlato M., Locatelli F., Saccomanno D., Carpo M., Bresolin N., Comi G (2006).
Neuroborreliosis mimicking a paraneoplastic syndrome.. NEUROLOGICAL SCIENCES, ISSN:
1590-1874
209 Lamperti C., Salani S., Fagiolari G, Fruguglietti E., Grimoldi N., Prelle A., Bordoni A.,
Ripolone M., Crugnola V., Bresolin N., Comi G (2006). Neuropathological study of skeletal
muscle, heart, liver, and brain in a neonatal form of Andersen Disease associated with a new
mutation in GBE1 gene.. NEUROMUSCULAR DISORDERS, ISSN: 0960-8966
210 Virgilio R., Bordoni A., Ronchi D., Hadjigeorgiou G.M., Del Bo R., Crugnola V., Kafetsouli
D., Tsironi E., Papadimitriou A., Bresolin N., Comi G (2006). New Twinkle Gene Mutations in
PEO Patients with Multiple Mitochondrial DNA Deletions.. NEUROLOGY, ISSN: 0028-3878
211 Papadimitriou D., Corti S., Locatelli F., Donadoni C., Salani S., Del Bo R., Strazzer S.,
Nizzardo M., Sardanu G., Bresolin N., Comi G (2006). SOX2-Dependent Dedifferentiation of
Human Astrocytes in Multipotent Stem Cells as Possible Cell Source for Repair in CNS Diseases..
NEUROLOGY, ISSN: 0028-3878
212 Virgilio R., Ronchi D., Bordoni A., Adobbati L., Hadjigeorgiou G.M., Saladino F.,
Papadimitriou A., Moggio M., Bresolin N., Comi G (2006). Screening of mitochondrial myopathy
with mtDNA multiple deletions and characterisation of patients without mutations in known loci..
NEUROLOGICAL SCIENCES, ISSN: 1590-1874
213 Locatelli F., Corti S., Papadimitriou D., Donadoni C., Salani S., Del Bo R., Fortunato F.,
Strazzer S., Nizzardo M., Nardini M., Bresolin N., Comi G (2006). Si-Rna silencing interfers on
motor neuron degeneration of SOD1 G93A ALS mouse model. . NEUROLOGICAL SCIENCES,
ISSN: 1590-1874
214 Carpo M., Baron P.L., Scarlato M., Egidi M., Saccomanno D., Brighina E., Piola M., Barbieri
S., Bresolin N., Comi G (2006). Stiff-Person Sindrome responding to intrathecal baclofen..
NEUROLOGICAL SCIENCES, ISSN: 1590-1874
215 Corti S., Locatelli F., Papadimitriou D., Del Bo R., Donadoni C., Salani S., Strazzer S.,
Nizzardo M., Sardanu G., Bresolin N., Comi G (2006). Transplantation of LeX+/CXCR4+ Adult
Pag. 151 di
Neural Stem Cells in the Spinal Cord of a Murine Model of Amyotrophic Lateral Sclerosis. .
NEUROLOGY, ISSN: 0028-3878
216 Corti S., Locatelli F., Papadimitriou D., Del Bo R., Nardini M., Salani S., Nizzardo M.,
Sardanu G., Strazzer S., Bresolin N., Comi G (2006). Transplantation of LeX+/CXCR4+ adult
neural stem cells delays disease progression of SOD1 mice, an animal model of amyotrophic lateral
sclerosis (ALS). . CLINICAL NEUROPATHOLOGY, ISSN: 0722-5091
217 Locatelli F., Corti S., Papadimitriou D., Donadoni C., Salani S., Del Bo R., Fortunato F.,
Strazzer S., Nizzardo M., Sardanu G., Bresolin N., Comi G (2006). siRNA Mediated Interference of
Motoneuron Death Triggered by Fas in SOD1 G93A ALS Mouse Model. . NEUROLOGY, ISSN:
0028-3878
218 V. Lucchini, M. Berardinelli, M. Carpanelli, M. Sciacco, A. Bordoni, D. Ronchi, E. Fassone,
M. Servida, M. Pluderi, Comi G, M. Moggio, N. Bresolin, C. Lamperti (2008). mtDNA depletion in
a case of fatal infant cytochrome c oxidase deficiency presenting with clinical feature of type 1
spinal muscular atrophy. JOURNAL OF NEUROLOGY, ISSN: 0340-5354
219 Virgilio R., Bordoni A., Ronchi D., Saladino F., Bresolin N., Sciacco M., Comi G (2007). A
novel mutation in the mitochondrial tRNA LeuCUN gene associated with a mitochondrial
myopathy with respiratory impairment.. NEUROMUSCULAR DISORDERS, ISSN: 0960-8966
220 Carpo M., Scarlato M., Saccomanno D., Barbieri S., Bersano A., Allaria S., Bresolin N., Comi
G (2007). An unusual presentation of multifocal motor neuropathy.. JOURNAL OF THE
PERIPHERAL NERVOUS SYSTEM, ISSN: 1085-9489
221 Carpo M., Saccomanno D., Scarlato M., Bersano A., Saladino F., Allaria S., Nobile-Orazio E.,
Bresolin N., Comi G (2007). Changes in neuroimmunological pattern in IVIg treated-MMN
patients: a long term follow up.. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, ISSN:
1085-9489
222 Magri F., Guglieri M., D’Angelo M., Cagliani R., Del Bo R., Ghezzi S., Ronchi D., Prelle A.,
Lamperti C., Fortunato F., Morandi L., Mora M., Moggio M., Bresolin N., Comi G (2007). Clinical
and genetical variability in a large sample of LGMD Italian patients. . NEUROMUSCULAR
DISORDERS, ISSN: 0960-8966
223 Bersano A., Del Bo R., Lamperti C., Ghezzi S., Bresolin N., Napoli L., Ballabio E., Moggio
M., Candelise L., Comi G, Corti S. (2007). Clinical and pathological aspects of an Italian patient
with inclusion body myopathy and frontotemporal dementia carrying a novel mutation in valosincontaining protein gene. . JOURNAL OF NEUROLOGY, ISSN: 0340-5354
224 Guglieri M., Magri F., D’Angelo M.G., Prelle A., Cagliani R., Fortunato F., Bordoni A., Del
Bo R., Ghezzi S., Lucchiari S., Salani S., Zecca C., Lamperti C., Ronchi D., Ciscato P., Moranti L.,
Mora M., Moroni I., Rodolico C., Toscano A., Moggio M., Bresolin N., Comi G (2007). Clinical,
molecular and protein correlations in a large sample of genetically diagnosed limb girdle muscular
dystrophy patients. NEUROLOGY, ISSN: 0028-3878
225 Santoro D., Lucchiari S., Pagliarani S., Bordoni A., Filocamo M., Di Rocco M., Rodolico C.,
Toscano A., Melis D., Parini R., Paci S., Giovannini M., Donati M., Bresolin N., Comi G (2007).
Disease natural history in a large group of genetically diagnosed glycogen storage disease type III..
Pag. 152 di
JOURNAL OF NEUROLOGY, ISSN: 0340-5354
226 Corti S., Bordoni A., Ronchi D., Santoro A., Papadimitriou D., Lamperti C., Lucchini V.,
Magri M., Guglieri M., Crugnola V., Moggio M., Bresolin N., Comi G (2007). Familial
Amyotrophic Lateral Sclerosis with a novel Q23R mutation in the Copper/zinc Superoxide
Dismutase gene associated with muscle mitochondrial dysfunction.. NEUROLOGY, ISSN: 00283878
227 Corti S., Locatelli F., Papadimitriou D., Fortunato F., Del Bo R., Donadoni C., Nizzardo M.,
Nardini M., Salani S., Ghezzi S., Strazzer S., Bresolin N., Comi G (2007). Fas siRNA mediated
interference reduces motor neuron death in amyotrophic lateral sclerosis mouse model..
NEUROMUSCULAR DISORDERS, ISSN: 0960-8966
228 Guglieri M., Magri F., Cagliani R., D'Angelo M.G., Pelle A., Del Bo R., Ghezzi S., Fortunato
F., Lamperti C., Moranti L., Mora M., Moggio M., Bresolin N., Comi G (2007). Genotype and
phenotype correlation in dysferlinopathies. . JOURNAL OF NEUROLOGY, ISSN: 0340-5354
229 Lucchiari S., Pagliarani S., Moggio M., Corti S., Lamperti C., Comi G (2007). Hypokalaemic
periodic paralysis: a new nonsense mutation in KCNJ 2 gene.. JOURNAL OF NEUROLOGY,
ISSN: 0340-5354
230 Ghezzi S., Del Bo R., Bonato S., Airoldi G., D’Angelo M.G., Turioni A.C., Bassi M.T.,
Bresolin N., Comi G (2007). Intrafamilial variable presentation of CMT2, spastic paraparesis and
cognitive impairment caused by a novel autosomal dominant MFN2 mutation.. NEUROLOGY,
ISSN: 0028-3878
231 D’Angelo M.G., Civati F., Lorusso M., Marini A., Comi G, Turconi A., Fabbro F., Bresolin N.
(2007). Language and reading disorders in Duchenne muscular dystrophy: Neuropsychological
assessment.. NEUROMUSCULAR DISORDERS, ISSN: 0960-8966
232 Carpo M., Scarlato M., Saccomanno D., Barbieri S., Bersano A., Allaria S., Bresolin N., Comi
G (2007). Multifocal motor neuropathy with an unusual clinical presentation.. JOURNAL OF THE
PERIPHERAL NERVOUS SYSTEM, ISSN: 1085-9489
233 Crugnola V., Lucchini V., Corti S., Addobbati L., Ciammola A., Ticozzi N., Fruguglietti M.E.,
Prelle A., Santoro D., Virgilio R., Silani V., Bresolin N., Moggio M., Comi G (2007). Muscle
mitochondrial oxidative defects in amyotrophic lateral sclerosis.. JOURNAL OF NEUROLOGY,
ISSN: 0340-5354
234 Papadimitriou D., Corti S., Locatelli F., Nizzardo M., Nardini M., Donadoni C., Salani S., Del
Bo R., Ghezzi S., Fortunato F., Strazzer S., Bresolin N., Comi G (2007). Neural stem cell
intratechal transplantation ameliorates the phenotype of a spinal muscular atrophy murine model. .
JOURNAL OF NEUROLOGY, ISSN: 0340-5354
235 Angelini C., Toscano A., Mongini T., Comi G, Gauthier R., Servidei S., Ravaglia S., Bruno C.,
Semplicioni C. (2007). Protocol for enzyme replacement therapy in late-onset glycogenosis type II
(GSDII). NEUROMUSCULAR DISORDERS, ISSN: 0960-8966
236 Lucchini V., Fagiolari G., Lamperti C., Fortunato F., Ponzi D., Crugnola V., Sciacco M.,
Bresolin N., Moggio M., Comi G, Bonato S.. (2007). Purkinje cell mitochondrial oxidative defect in
the animal model of spinocerebellar ataxia type 1. JOURNAL OF NEUROLOGY, ISSN: 03405354
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237 Papadimitriou D., Corti S., Locatelli F., Nizzardo M., Cardini M., Donadoni C., Salani S., Del
Bo R., Ghezzi S., Fortunato F., Strazzer S., Bresolin N., Comi G (2007). Transplantation of an
ALDHhiSSCio population as a potential therapy os spinal muscular atrophy. NEUROLOGY, ISSN:
0028-3878
238 G. Remiche, D. Ronchi, C. Lamperti, M.G. D'Angelo, A. Bordoni, C. Montrasio, V. Crugnola,
F. Magri, M. Moggio, N. Bresolin, Comi G (2008). 2008). Adult form type II Glycogen Storage
Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic
determinants. . NEUROLOGY, ISSN: 0028-3878
239 C. Lamperti, V. Crugnola, M. Servida, G. Fagiolari, M. Serafini, A. Prelle, M. Sciacco, F.
Fortunato, L. Napoli, A. Di Fonzo, G. P. Comi, R. G. Tupler, N. Bresolin, M. Moggio (2008). A
Late Role of ANT-1 Overexpression in the Pathogenesis of FSHD. NEUROLOGY, ISSN: 00283878
240 C. Lamperti, V. Crugnola, M. Servida, G. Fagiolari, M. Serafini, A. Prelle, M. Sciacco, F.
Fortunato, L. Napoli, A. Di Fonzo, Comi G, R. G. Tupler, N. Bresolin, M. Moggio (2008). A Late
Role of ANT-1 Overexpression in the Pathogenesis of FSHD.. NEUROLOGY, ISSN: 0028-3878
241 F. Magri, R. Virgilio, R. Del Bo, F. Fortunato, S. Ghezzi, R. Cagliani, M. Sironi, M.G.
D'Angelo, V. Crugnola, M. Moggio, N. Bresolin, G.P. Comi (2008). A stop codon mutation in the
5’ of the dystrophin gene associated to a Becker muscular dystrophy phenotype. JOURNAL OF
NEUROLOGY, ISSN: 0340-5354
242 Remiche G., Ronchi D., Lamperti C., D'Angelo M.G., Parini B., Bordoni A., Montrasio C.,
Crugnola V., Magri F., Moggio M., Bresolin N., Comi G (2008). Adult Form Type II Glycogen
Storage Disease in a Northern Italy Population: Phenotype Characterization, Early Diagnosis and
Prognostic Determinants.. NEUROLOGY, ISSN: 0028-3878
243 G. Remiche, D. Ronchi, C. Lamperti, M.G. D'Angelo, A. Bordoni, C. Montrasio, V. Crugnola,
F. Magri, M. Moggio, N. Bresolin, G.P. Comi (2008). Adult form type II Glycogen Storage Disease
in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic
determinants. NEUROLOGY, vol. 70, p. A1-S84, ISSN: 0028-3878
244 G. Remiche, D. Ronchi, C. Lamperti, M.G. D'Angelo, A. Bordoni, C. Montrasio, V. Crugnola,
F. Magri, M. Moggio, N. Bresolin, Comi G (2008). Adult form type II Glycogen Storage Disease in
a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic
determinants. NEUROLOGY, ISSN: 0028-3878
245 F.M.B. Magri, C. Lamperti, D. Ronchi, E. Fassone, N. Grimoldi, M. Moggio, N. Bresolin, G.P.
Comi (2008). Autosomal Recessive Ala93Thr mutation in caveolin-3 gene : a new family.
NEUROMUSCULAR DISORDERS, vol. 18, p. 768, ISSN: 0960-8966, doi:
10.1016/j.nmd.2008.06.154
246 Magri F., Lamperti C., Ronchi D., Fassone E., Grimoldi N., Moggio M., Bresolin N., Comi G
(2008). Autosomal Recessive Ale93Thr mutation in caveolin-3 gene: a new family13th.
NEUROMUSCULAR DISORDERS, ISSN: 0960-8966
247 F. Magri, R. Del Bo, F. Fortunato, S. Ghezzi, R. Cagliani, M. Sironi, M.G. D’Angelo, V.
Crugnola, M. Moggio, N. Bresolin, G.P. Comi (2008). Becker muscular dystrophy with a stop
Pag. 154 di
codon mutation in the 5′ of the dystrophin gene. NEUROMUSCULAR DISORDERS, ISSN: 09608966
248 Romei M., D’Angelo M.G., Lo Mauro A., Bonato S., Gandossini S., Turconi A.C., Comi G,
Marchi E., Pedotti A., Bresolin N., Aliverti A. (2008). Breathing pattern in neuromuscular
disorders.. NEUROMUSCULAR DISORDERS, ISSN: 0960-8966
249 M. Servida, L. Napoli, D. Ronchi, P. Ciscato, A. Bordoni, A. Prelle, G.P. Comi, M. Moggio, N.
Bresolin, M. Sciacco (2008). Cephalalgia, myopathy and familial dementia with CADASIL-like
MRI and multiple mtDNA deletions. JOURNAL OF NEUROLOGY, vol. 255, p. 148, ISSN: 03405354, doi: 10.1007/s00415-008-2001-5
250
Servida M., Napoli L., Ronchi D., Ciscato P., Bordoni A., Prelle A., Comi G, Moggio M., Bresolin
N., Sciacco M. (2008). Cephalgia, myopathy and familial dementia with CADASIL-like MRI and
multiple mtDNA Deletions. . JOURNAL OF NEUROLOGY, ISSN: 0340-5354
251 D. Ronchi, A. Bordoni, R. Virgilio, E. Fassone, A. DiFonzo, M. Servida, M. Ronconi, V.
Lucchini, M. Matteoli, N. Bresolin, Comi G (2008). Clinical features of an adult-onset Leigh
syndrome caused by the T9176C mutation in the mitochondrial DNA ATPase 6 gene. . JOURNAL
OF NEUROLOGY, ISSN: 0340-5354
252 R. Virgilio, F. Magri, R. Del Bo, S. Ghezzi, S. Tedeschi, M.G. D’Angelo, D. Coviello, A.
Prelle, A. Bordoni, M. Sciacco, C. Lamperti, S. Corti, Y. Torrente, M. Moggio, N. Bresolin, G.P.
Comi (2008). Comprehensive genetic analysis and clinical follow-up findings in 203 DMD patients.
NEUROMUSCULAR DISORDERS, ISSN: 0960-8966
253 G. Remiche, A. Lo Mauro, A. Aliverti, P. Tarsia, G.P. Comi, N. Bresolin, M.G. D’Angelo
(2008). Evaluation of optoelectronic plethysmography (OEP) in assessment of respiratory function
in patients with type II glycogenosis (adult form).. NEUROMUSCULAR DISORDERS, ISSN:
0960-8966
254 R. Cagliani, E. Fruguglietti, A. Berardinelli, M.G. D’Angelo, A. Prelle, K. Gorni, S. Orcesi, C.
Lamperti, E. Signaroldi, R. Tupler, M. Moggio, G.P. Comi (2008). Genetic and ultrastructural
findings in Selenoprotein N1-related congenital myopathies. NEUROMUSCULAR DISORDERS,
ISSN: 0960-8966
255 S.M. Messina, F.M.S. Santorelli, M.M. Mora, C.B. Bruno, E.P. Pegoraro, A.P. Pini, T.M.
Mongini, A.D. d’Amico, M.P. Pane, R.B. Biancheri, A.B. Berardinelli, A.T. Toscano, L.M.
Morandi, I. Moroni, G.P. Comi, C. Uggetti, C.P.T. Trevisan, L.F. Farina, A.P. Pichiecchio, C.S.
Scuderi, A.R. Ruggieri, E.B. Bertini, E.M. Mercuri (2008). Genotype–phenotype correlations in
congenital muscular dystrophies with defective glycosylation of dystroglycan : a multicentric Italian
study. NEUROMUSCULAR DISORDERS, ISSN: 0960-8966
256 Messina S.M., Santorelli F.M.S., Mora M.M., Bruno C.B., Pegoraro E.P., Pini A.P., Mongini
T.M., D’Amico A.D., Pane M.P., Biancheri R.B., Berardinelli A.B., Toscano A.T., Morandi L.M.,
Moroni I., Comi G, Uggetti C., Trevisan C.P.T., Farina L.F., Pichiecchio A.P., Scuderi C.S.,
Ruggieri A.R., Bertini E.B., Mercuri E.M. (2008). Genotype–phenotype correlations in congenital
muscular dystrophies with defective glycosylation of dystroglycan: A multicentric Italian study..
NEUROMUSCULAR DISORDERS, ISSN: 0960-8966
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257 S. Corti, M. Nizzardo, M. Nardini, C. Donadoni, S. Salani, F. Fortunato, R. Del Bo, F.
Locatelli, D. Papadimitriou, S. Strazzer, N. Bresolin, Comi G (2008). HB9-Positive Neural Stem
Cell-Derived Motor Neurons Improve Disease Phenotype after Transplantation into a SMARD1
Animal Model. . NEUROLOGY, ISSN: 0028-3878
258 M. Romei, M.G. D’Angelo, A. Lo Mauro, S. Bonato, S.Gandossini, A.C. Turconi, G.P. Comi,
E. Marchi, A. Pedotti, N.Bresolin, A. Aliverti (2008). M. Romei, M.G. D’Angelo, A. Lo Mauro, S.
Bonato, S.Gandossini, A.C. Turconi, G.P. Comi, E. Marchi, A. Pedotti, N.Bresolin, A. Aliverti.
NEUROMUSCULAR DISORDERS, ISSN: 0960-8966
259 R. Virgilio, D. Ronchi, A. Bordoni, E. Fassone, M. Moggio, S. Bonato, G. Conti, C. Donadoni,
L. Barbetta, G. Torgano, S. Corti, N. Bresolin, G.P. Comi (2008). Mitochondrial DNA G8363A
mutation in the tRNA Lys gene : clinical features of a new family. JOURNAL OF NEUROLOGY,
vol. 255, p. 69, ISSN: 0340-5354
260 R. Virgilio, D. Ronchi, A. Bordoni, E. Fassone, M. Moggio, S. Bonato, G. Conti, C. Donadoni,
L. Barbetta, G. Torgano, S. Corti, N. Bresolin, Comi G (2008). Mitochondrial DNA G8363A
mutation in the tRNA Lys gene : clinical features of a new family.. JOURNAL OF NEUROLOGY,
ISSN: 0340-5354
261 Virgilio R., Ronchi D., Bordoni A., Fassone E., Moggio M., Bonato S., Conti G., Donadoni C.,
Barbetta L., Torgano G., Corti S., Bresolin N., Comi G (2008). Mitochondrial DNA G8363A
mutation in the tRNA Lys gene: clinical features of a new family.. JOURNAL OF NEUROLOGY,
ISSN: 0340-5354
262 Corti S., Nizzardo M., Nardini M., Donandoni C., Saladino F., Fortunato F., Tucci A., Bresolin
N., Comi G (2008). Murine Embryonic (mES) Derived Neural Stem Cells Transplantation
Ameliorates Disease Phenotype of a Spinal Muscular Atrophy Model.. NEUROLOGY, ISSN:
0028-3878
263 R. Cagliani, A. Berardinelli, M. G. D'Angelo, A. Prelle, E. Fruguglietti, K. Gorni, S. Orcesi, C.
Lamperti, E. Signaroldi, R. Tupler, N. Bresolin, M. Moggio, G. P. Comi (2008). New Molecular
and Ultrastructural Findings in Congenital Myopathies Due to Selenoprotein N1 Gene Mutations.
NEUROLOGY, ISSN: 0028-3878
264 R. Cagliani, A. Berardinelli, M. G. D'Angelo, A. Prelle, E. Fruguglietti, K. Gorni, S. Orcesi, C.
Lamperti, E. Signaroldi, R. Tupler, N. Bresolin, M. Moggio, Comi G (2008). New Molecular and
Ultrastructural Findings in Congenital Myopathies Due to Selenoprotein N1 Gene Mutations..
NEUROLOGY, ISSN: 0028-3878
265 M.E. Fruguglietti, R. Cagliani, L. Napoli, A. Berardinelli, M.G. D'Angelo, K. Gorni, S. Orcesi,
C. Lamperti, E. Signaroldi, R. Tupler, N. Bresolin, M. Moggio, G.P. Comi, A. Prelle (2008).
Peculiar ultrastructural findings in congenital myopathies due to selenoprotein N1 gene new
mutations. JOURNAL OF NEUROLOGY, ISSN: 0340-5354
266 M.E. Fruguglietti, R. Cagliani, L. Napoli, A. Berardinelli, M.G. D'Angelo, K. Gorni, S. Orcesi,
C. Lamperti, E. Signaroldi, R. Tupler, N. Bresolin, M. Moggio, Comi G, A. Prelle (2008). Peculiar
ultrastructural findings in congenital myopathies due to selenoprotein N1 gene new mutations.
JOURNAL OF NEUROLOGY, ISSN: 0340-5354
Pag. 156 di
267 Del Bo R., Ghezzi S., Corti S., Santoro D., Briani C., Mancuso M., Siciliano G., Fenoglio C.,
Scarpini E., Bresolin N., Comi G (2008). Progranulin Genotyping in 237 Sporadic Amyotrophic
Lateral Sclerosis Patients. NEUROLOGY, ISSN: 0028-3878
268 D. Santoro, S. Ghezzi, S. Corti, M.E. Fruguglietti, A. Prelle, M. Mancuso, G. Siciliano, C.
Briani, N. Bresolin, G.P. Comi, R. Del Bo. (2008). Progranulin genetic variability is not associated
to sporadic amyotrophic lateral sclerosis in Italian patients. JOURNAL OF NEUROLOGY, ISSN:
0340-5354
269 D. Santoro, S. Ghezzi, S. Corti, M.E. Fruguglietti, A. Prelle, M. Mancuso, G. Siciliano, C.
Briani, N. Bresolin, Comi G, R. Del Bo. (2008). Progranulin genetic variability is not associated to
sporadic amyotrophic lateral sclerosis in Italian patients. JOURNAL OF NEUROLOGY, ISSN:
0340-5354
270 F. Magri, R. Del Bo, S. Ghezzi, S. Tedeschi, M. G. D'Angelo, D. Coviello, A. Prelle, A.
Bordoni, M. Sciacco, C. Lamperti, S. Corti, Y. Torrente, M. Moggio, N. Bresolin, Comi G (2008).
Stop Codons, Duplications and Deletions of the Dystrophin Gene: Frequency and Clinical FollowUp in 201 DMD Patients. . NEUROLOGY, ISSN: 0028-3878
271 S. Corti, M. Nizzardo, M. Nardini, C. Donadoni, F. Fortunato, F. Saladino, N. Bresolin, G.P.
Comi (2008). Transplantation of neural stem cells derived from murine embryonic stem cells
ameliorates spinal muscular atrophy phenotype.. JOURNAL OF NEUROLOGY, ISSN: 0340-5354
272 S. Corti, M. Nardini, M. Nizzardo, C. Donadoni, S. Salani, F. Fortunato, R. Del Bo, D.
Papadimitriou, F. Locatelli, S. Strazzer, N. Bresolin, G.P. Comi (2008). Transplanted neural stem
cell-derived motor neurons improve SMARD1 disease phenotype. JOURNAL OF NEUROLOGY,
ISSN: 0340-5354
273 S. Corti, M. Nardini, M. Nizzardo, C. Donadoni, S. Salani, F. Fortunato, R. Del Bo, D.
Papadimitriou, F. Locatelli, S. Strazzer, N. Bresolin, Comi G (2008). Transplanted neural stem cellderived motor neurons improve SMARD1 disease phenotype.. JOURNAL OF NEUROLOGY,
ISSN: 0340-5354
274 Corti S., Nardini M., Nizzardo M., Donadoni C., Salani S., Fortunato F., Del Bo R.,
Papadimitriou D., Locatelli F., Strazzer S., Bresolin N., Comi G (2008). Transplanted neural stem
cell-derived motor neurons improve SMARD1 disease phenotype. 18th Meeting of the European
Neurological Society. . JOURNAL OF NEUROLOGY, ISSN: 0340-5354
275 M. Nizzardo, S. Corti, M. Nardini, C. Donadoni, F. Fortunato, N. Bresolin, Comi G (2008).
Trapianto di cellule staminali neuronali derivate da staminali embrionali (ES) come possibile
strategia terapeutica per l’Atrofia Muscolare Spinale.. BASIC AND APPLIED MYOLOGY, ISSN:
1120-9992
276 S. Corti, M. Nizzardo, M. Nardini, C. Donadoni, F. Fortunato, N. Bresolin, G.P. Comi (2008).
Treatment of spinal muscular atrophy by transplantation of embryonic (ES) derived neural stem
cells. NEUROMUSCULAR DISORDERS, ISSN: 0960-8966
277 S. Corti, M. Nizzardo, M. Nardini, C. Donadoni, F. Fortunato, N. Bresolin, Comi G (2008).
Treatment of spinal muscular atrophy by transplantation of embryonic (ES) derived neural stem
cells. . NEUROMUSCULAR DISORDERS, ISSN: 0960-8966
Pag. 157 di
278 B. Borroni, S. Ghezzi, C. Agosti, S. Archetti, C. Fenoglio, D. Galimberti, E. Scarpini, M. Di
Luca, N. Bresolin, G.P. Comi, A. Padovani, R. Del Bo (2008). Vascular Endothelial Growth Factor
genetic variability confers susceptibility to frontotemporal lobar degeneration.. DEMENTIA AND
GERIATRIC COGNITIVE DISORDERS, ISSN: 1420-8008
279 V. Lucchini, M. Berardinelli, M. Carpanelli, M. Sciacco, A. Bordoni, D. Ronchi, E. Fassone,
M. Servida, M. Pluderi, G.P. Comi, M. Moggio, N. Bresolin, C. Lamperti (2008). mtDNA depletion
in a case of fatal infant cytochrome c oxidase deficiency presenting with clinical feature of type 1
spinal muscular atrophy. JOURNAL OF NEUROLOGY, vol. 255, p. 73, ISSN: 0340-5354
280 V. Lucchini, M. Berardinelli, M. Carpanelli, M. Sciacco, A. Bordoni, D. Ronchi, E. Fassone,
M. Servida, M. Pluderi, Comi G, M. Moggio, N. Bresolin, C. Lamperti (2008). mtDNA depletion in
a case of fatal infant cytochrome c oxidase deficiency presenting with clinical feature of type 1
spinal muscular atrophy. . JOURNAL OF NEUROLOGY, ISSN: 0340-5354
281 Lopez I.D., Scarlato M., Dacci P., De Toni F., Del Bo R., Cerri F., Quattrini A., Comi G, Fazio
R. (2009). A case report of sensorimotor and autonomic neuropathy.. JOURNAL OF THE
PERIPHERAL NERVOUS SYSTEM, ISSN: 1085-9489
282 Marchesi C, Pagliarani S, Savoiardo M, Morandi L, Salsano E, Bordoni A, Comi G, Pareyson
D (2009). ADULT POLYGLUCOSAN BODY DISEASE AND FABRY DISEASE IN THE
SAME PATIENT. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, vol. 14, p. 19,
ISSN: 1085-9489
283 G. Remiche, D. Ronchi, C. Lamperti, M. G. D'Angelo, A. Bordoni, C. Montrasio, V. Crugnola,
F. Magri, M. Moggio, N. Bresolin, G. P. Comi (2009). Adult Form Type II Glycogen Storage
Disease in a Northern Italy Population: Phenotype Characterization, Early Diagnosis and Prognostic
Determinants. NEUROLOGY, ISSN: 0028-3878
284 D'Angelo MG, Romei M, Gandossini S, Bonato S, Colombo D, Marchi E, Lo Mauro A,
Turconi AC, Comi G, Aliverti A, Bresolin N (2009). Bioengineering and muscular dystrophy.
NEUROMUSCULAR DISORDERS, vol. 19, p. 572, ISSN: 0960-8966, doi:
10.1016/j.nmd.2009.06.092
285 Marchesi C, Pagliarani S, Savoiardo M, Morandi L, Lucchiari S, Salsano E, Comi G, Pareyson
D (2009). COEXISTENCE OF ADULT POLYGLUCOSAN BODY DISEASE AND FABRY
DISEASE. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, vol. 14, p. 96-97, ISSN:
1085-9489
205 D'Angelo MG, Romei M, Gandossini S, Bonato S, Comi G, Colombo D, Turconi AC, Bresolin
N, Aliverti A (2009). Clinical evaluation of muscular dystrophies: new tools from BioEngineering.
JOURNAL OF NEUROLOGY, vol. 256, p. S26-S27, ISSN: 0340-5354
286 Gandossini S, d'Angelo MG, Bonato S, Comi G, Magri F, Moggio M, Sciacco M, Turconi AC,
Sciorati C, Bresolin N, Clementi E (2009). Clinical trial using nitric oxide releasing drug and
nonsteroidal antiinflammatory drugs in muscular dystrophy: Design of a study.
NEUROMUSCULAR DISORDERS, vol. 19, p. 611, ISSN: 0960-8966, doi:
10.1016/j.nmd.2009.06.211
287 Lucchini V, Napoli L, Crugnola V, Servida A, Ciscato P, Bordoni A, Ronchi D, Lerario A,
Oldfors A, Prelle A, Bresolin N, Comi G, Moggio M, Torrente Y, Sciacco M (2009). Congenital
Pag. 158 di
myopathy with ptosis, ophthalmoplegia and muscle dystrophic changes: a possible sporadic case of
myosin heavy chain type IIa myopathy. JOURNAL OF NEUROLOGY, vol. 256, p. S131, ISSN:
0340-5354
288 Carpo M, Saccomanno D, Bosseloir A, Ruisseau N, Bresolin N, Comi G (2009). DETECTION
OF ANTI-GLYCOLIPID ANTIBODIES BY A DOT-BLOT ANALYSIS: COULD IT BE A
VALID ALTERNATIVE? JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, vol. 14, p.
6, ISSN: 1085-9489
289 Magri F, Del Bo R, Lamperti C, D'Angelo MG, Berardinelli A, Grimoldi N, Ghezzi S, Moggio
M, Comi G (2009). De novo small duplication in Lamin A/C gene associated with congenital
muscular dystrophy phenotype. JOURNAL OF NEUROLOGY, vol. 256, p. S132, ISSN: 03405354
290 Santoro D, Ghione I, Corti S, Servida M, Prelle A, Bresolin N, Comi G (2009). Decline of
ALS-FRS and Norris scale scores in a group of patients affected by ALS and treated with lithium.
JOURNAL OF NEUROLOGY, vol. 256, p. S81-S82, ISSN: 0340-5354
291 Crugnola V, Colombo I, Rossetti G, Grimoldi N, Ciscato P, Prelle A, Comi G, Bresolin N,
Moggio M, Lamperti C (2009). Infantile inflammatory myopathy presenting as SMARD 1.
NEUROMUSCULAR DISORDERS, vol. 19, p. 596, ISSN: 0960-8966, doi:
10.1016/j.nmd.2009.06.167
292 Colombo I, Servida M, Bordoni A, Ciscato P, Prelle A, Comi G, Bassi MT, Parini B, Bassotti
A, Valli M, Bresolin N, Moggio M, Sciacco M (2009). Mitochondrial, Ehlers-Danlos and
CADASIL Features in the Same Family: A Genetic Puzzle or a New Disease Entity?.
NEUROLOGY, vol. 72, p. A87, ISSN: 0028-3878
293 Colombo I., Servida M., Bordoni A., Ciscato P., Prelle A., Comi G, Bassi M.T., Bassotti A.,
Valli M., Bresolin N., Moggio M., Sciacco M. (2009). Mitochondrial, Ehlers-Danlos and
CADASIL features in the same family: a genetic puzzle or a new disease entità?. NEUROLOGY,
ISSN: 0028-3878
294 Magri F, Govoni A, D'Angelo MG, Del Bo R, Tedeschi S, Ghezzi S, Virgilio R, Bonato S,
Gandossini S, Bordoni A, Corti S, Crugnola V, Prelle A, Lamperti C, Moggio M, Bresolin N, Comi
G (2009). Molecular epidemiology and clinical features of a large Italian cohort of 291
dystrophinopathic patients. JOURNAL OF NEUROLOGY, vol. 256, p. S132-S133, ISSN: 03405354
295 Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Del Bo R, Papadimitriou D, Locatelli
F, Bresolin N, Comi G (2009). Moto neuron transplantation rescues the phenotype of spinal
muscular atrophy with respiratory distress type 1. JOURNAL OF NEUROLOGY, vol. 256, p. S82,
ISSN: 0340-5354
296 Corti S., Nizzardo M., Nardini M., Donadoni C., Salani S., Del Bo R., Papadimitriou D.,
Locatelli F., Bresolin N., Comi G (2009). Motoneuron transplantation rescues the phenotype of
spinal muscular atrophy with respiratory distress type 1. . JOURNAL OF NEUROLOGY, ISSN:
0340-5354
297 Corti S., Nizzardo M., Nardini M., Donadoni C., Del Bo R., Papadimitriou D., Locatelli F.,
Mezzina N., Bresolin N., Comi G (2009). Motoneurons transplantation with pharmacological
Pag. 159 di
therapy to promote axonal elongation improves the phenotype of a model of Spinal Muscolar
Atrophy with Respiratory Distress Type 1 (SMARD1). . NEUROLOGY, ISSN: 0028-3878
298 Sansone V, Pagliarani S, Lucchiari S, Zanolini A, Fossati B, Panzeri MC, Comi G, Meola G
(2009). Myotonia permanens with neonatal onset associated with a p.Gly1306Glu mutation in the
SCN4A gene. JOURNAL OF NEUROLOGY, vol. 256, p. S27, ISSN: 0340-5354
299 Corti S, Nizzardo M, Salani S, Nardini M, Donadoni C, Ronchi D, Simone C, Falcone M,
Bresolin N, Comi G (2009). Neural stem cells derived from genetically engineered, lineageselectable ES cells improves the phenotype of a mouse model of spinal muscular atrophy.
JOURNAL OF NEUROLOGY, vol. 256, p. S19, ISSN: 0340-5354
300 Lucchiari S, Sansone V, Pagliarani S, Corti S, Magri F, Lamperti C, Raimondi M, D'Angelo
MG, Bresolin N, Comi G, Meola G (2009). Novel CLCN1 gene mutations associated with
Myotonia congenita in Italian patients. JOURNAL OF NEUROLOGY, vol. 256, p. S129, ISSN:
0340-5354
301 Ronchi D, Raimondi M, Zecca C, Bordoni A, Corti S, Gobbi C, Comi G (2009). Novel
homozygous mutation in SOD1 gene in a patient with familial amyotrophic lateral sclerosis.
JOURNAL OF NEUROLOGY, vol. 256, p. S79-S80, ISSN: 0340-5354
302 Pagliarani S., Marchesi C., Lamperti C., Lucchiari S., Morandi L., Salsano E., Savoiardo M.,
Bordoni A., Moggio M., Comi G, Pareyson. (2009). One gene, two clinical profiles:novel GBE1
mutations in GSD type IV and Adult Polyglucosan Body Disease. . NEUROLOGY, ISSN: 00283878
303 Romei M, d'Angelo MG, Gandossini S, Bonato S, Comi G, Colombo D, Marchi E, Lo Mauro
A, Aliverti A, Bresolin N (2009). Optoelectronic plethysmography in respiratory assessment in
Duchenne muscular dystrophy. NEUROMUSCULAR DISORDERS, vol. 19, p. 572, ISSN: 09608966, doi: 10.1016/j.nmd.2009.06.093
304 Marchesi C, Pagliariani S, Lucchiari S, Morandi L, Salsano E, Savoiardo M, Bordoni A,
Moggio M, Pareyson D, Comi G (2009). Phenotypic heterogeneity of GBE1 mutations: congenital
glycogen storage disease type IV and adult polyglucosan body disease. JOURNAL OF
NEUROLOGY, vol. 256, p. S157-S158, ISSN: 0340-5354
305 Fenoglio C., Galimberti D., Martinelli-Boneschi F., Scalabrini D., Esposito F., De Riz M.,
Piccio L., Comi C., Pietroboni A., Piola M., Venturelli E., Cortini F., Villa C., Serpente M., Leone
M., Bresolin N., Cross A., Comi G, Scarpini E. (2009). Progranulin genetic variability in primary
progressive multiple sclerosis.. JOURNAL OF NEUROLOGY, ISSN: 0340-5354
306 Sansone V.A., Lucchiari S., Zanolini A., Pagliarani S., Fossati B., Panzeri M., Corti S., Magri
F., Bresolin N., Comi G, Meola G. (2009). Redefining clinical phenotype in a large color of Italian
non-dystrophic myotonic patients.. NEUROLOGY, ISSN: 0028-3878
307 Mazzone E.S., Messina S., Vasco G., Main M., Eagle M., D’Amico A., Bruno C., Politano L.,
Berardinelli A., Mongini T., Pini A., Battini R., Comi G, Pegoraro E., Morandi L., Villanova M.,
Vita G., Bertini E., Mercuri E. (2009). Reliability of the north star ambulatory assessment in a
multicentric setting.. NEUROMUSCULAR DISORDERS, ISSN: 0960-8966
Pag. 160 di
308 Fruguglietti ME, Ciscato P, Napoli L, Sciacco M, Colombo I, Lamperti C, Serafini M,
Grimoldi N, Comi G, Bresolin N, Moggio M, Prelle A (2009). Retrospective study of a population
of patients affected by myofibrillar myopathies at muscle biopsy. JOURNAL OF NEUROLOGY,
vol. 256, p. S130-S131, ISSN: 0340-5354
309 Del Bo R, Ghezzi S, Corti S, Ranieri M, Santoro D, Ghione I, Pandolfo M, Prelle A, Soraru G,
Briani C, Mancuso M, Siciliano G, Angelini C, Bresolin N, Comi G (2009). TARDBP gene
mutations in 314 individuals with familial and sporadic ALS. JOURNAL OF NEUROLOGY, vol.
256, p. S82-S83, ISSN: 0340-5354
310 R. Del Bo, S. Corti, M. Ranieri, S. Ghezzi, D. Santoro, I. Ghione, M. Pandolfo, G. Sorarù, C.
Braini, M. Mancuso, G. Siciliano, N. Bresolin, G.P. Comi (2009). TARDBP genotyping in patients
with Familial and sporadic ALS : identification of two novel mutations. NEUROLOGY, ISSN:
0028-3878
311 Del Bo R., Corti S., Ranieri M., Ghezzi S., Santoro D., Ghione I., Pandolfo M., Sorarù G.,
Braini C., Mancuso M., Siciliano G., Bresolin N., Comi G (2009). TARDBP genotyping in patients
with Familial and sporadic ALS: identification of two novel mutations.. NEUROLOGY, ISSN:
0028-3878
312 R. Del Bo, S. Ghezzi, S. Corti, M. Ranieri, D. Santoro, I. Ghione, M. Pandolfo, A. Prelle, G.
Soraru`, C. Briani, M. Mancuso, G. Siciliano, C. Angelini, N. Bresolin, G.P. Comi (2009).
TARDPB gene mutations in 314 individuals with familial and sporadic ALS. JOURNAL OF
NEUROLOGY, ISSN: 0340-5354
313 Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A,
Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Moggio M, Bresolin N, Ferrero I, Comi
G (2009). The mitochondrial disulfide relay system protein GFER is mutated in autosomal recessive
myopathy with congenital cataract and COX deficiency. JOURNAL OF NEUROLOGY, vol. 256,
p. S27-S28, ISSN: 0340-5354
314 Corti S., Nizzardo M., Nardini M., Salani S., Donadoni C., Ronchi D., Papadimitriou D.,
Virgilio R., Bresolin N., Comi G (2009). Transplantation of neural stem cells derived from
engineered ESC lineage (sox2-βgeo/oct4-tk cells) improves the phenotype of a mouse model of
Spinal Muscular Atrophy. . NEUROLOGY, ISSN: 0028-3878
315 Magri F, Govoni A, Del Bo R, Colombo I, Bresolin N, Comi G, Corti S (2010). A novel
CHRNE gene mutation associated with congenital myasthenia: case report and review of the
literature. JOURNAL OF NEUROLOGY, vol. 257, p. S167-S168, ISSN: 0340-5354
316 Govoni A, Magri F, Del Bo R, Ghezzi S, Bordoni A, Fortunato F, D'angelo MG, Tedeschi S,
Lucchini V, Moggio M, Comi G (2010). A novel intronic DYS gene mutation leading to a
pseudoexon insertion in a DMD patient. JOURNAL OF NEUROLOGY, vol. 257, p. S168, ISSN:
0340-5354
317 Ranieri M, Del Bo R, Corti S, Bordoni A, Mancarella G, Bresolin N, Comi G (2010). A
splicing site OPA1 mutation associated with autosomal dominant optic atrophy in an Italian family.
JOURNAL OF NEUROLOGY, vol. 257, p. S205, ISSN: 0340-5354
318 Nizzardo M, Nardini M, Ronchi D, Salani S, Simone C, Falcone M, Donadoni C, Mezzina N,
Pag. 161 di
Gianni F, Bresolin N, Comi G, Corti SP (2010). Beta-Lactam Antibiotics Offer Neuroprotection in
a Spinal Muscular Atrophy Mouse Model by Multiple Mechanisms. NEUROLOGY, vol. 74, p.
A332, ISSN: 0028-3878
319 Valenza F, Pizzocri M, Salice V, Chevallard G, Fossali T, Coppola S, Froio S, Polli F, Conte
G, Fortunato F, Comi G, Gattinoni L (2010). EFFECTS OF SODIUM BICARBONATE
INFUSION ON BLOOD LACTATE LEVELS AND ACID-BASE STATUS IN A RAT MODEL
OF TRANSIENT OR SUSTAINED MILD LACTIC ACIDEMIA. INTENSIVE CARE
MEDICINE, vol. 36, p. S429, ISSN: 0342-4642
320 A. Protti, A. Lecchi, F. Fortunato, F. Rosini, A. Artoni, N. Greppi, A. Gjoka, G. Mistraletti, G.
Comi, L. Gattinoni (2010). Metformin increases platelet lactate production by inhibiting
mitochondrial function. CRITICAL CARE, vol. Vol 14, p. S56-S57, ISSN: 1466-609X, doi:
10.1186/cc8394
321 A. Protti, A. Lecchi, F. Fortunato, F. Rosini, A. Artoni, N. Greppi, A. Gjoka, G. Mistraletti,
Comi G, L. Gattinoni (2010). Metformin increases platelet lactate production by inhibiting
mitochondrial function. CRITICAL CARE, ISSN: 0270-7462
322 Corti S, Magri F, Nizzardo M, Simone C, Falcone M, Salani S, Donadoni C, Nardini M,
Riboldi G, Menozzi G, Bonaglia C, Rizzo F, Bresolin N, Comi G (2011). A model for motor neuron
degeneration and treatment of Spinal Muscular Atrophy using human induced pluripotent stem
cells. NEUROMUSCULAR DISORDERS, vol. 21, p. 686, ISSN: 0960-8966, doi:
10.1016/j.nmd.2011.06.909
323 Ranieri M, Ronchi D, Orcesi S, Sparta V, Cosi A, Bordoni A, Lucchini V, Fortunato F, Fassone
E, Rulfi G, Rizzuti M, Ripolone M, Sciacco M, Moggio M, Corti S, Savasta S, Berardinelli A,
Veggiotti P, Comi G (2011). Clinical and genetical heterogeneity in a cohort of paediatric patients
affected with mitochondrial disorders. JOURNAL OF NEUROLOGY, vol. 258, p. 60, ISSN: 03405354
324 Govoni A, Magri F, Ghezzi S, Violano R, Colombo I, Scarlato M, Napoli L, Ciscato P, Sciacco
M, Moggio M, Bresolin N, Corti S, Comi G (2011). Congenital myopathies: clinical, morphological
and molecular findings in a sample of 29 Italian patients. JOURNAL OF NEUROLOGY, vol. 258,
p. 245-246, ISSN: 0340-5354
325 Corti S., Nizzardo M., Simone C., Falcone M., Riboldi G., Nardini M., Donadoni C., Salani S.,
Papadimitriou D., Bresolin N., Comi G (2011). Directing Human Astrocytes into Neural Stem Cells
and Neurons as Possible Tool for Repair in CNS Diseases. . NEUROLOGY, ISSN: 0028-3878
326 Magri F., Del Bo R., D’Angelo M.G., Gandossini S., Lucchini V., Govoni A., Napoli L., Corti
S., Moggio M., Bresolin N., Comi G (2011). Frequency and characterization of anoctamin 5
mutations in Italian limb girdle muscular dystrophy patients. . ACTA MYOLOGICA, ISSN: 11282460
327 Corti S., Nizzardo M., Nardini M., Simone C., Falcone M., Riboldi G., Donadoni C., Salani S.,
Menozzi G., Bonaglia C. Bresolin N., Comi G (2011). Generation of Motoneurons from Spinal
Muscular Atrophy-Induced Pluripotent Stem Cells Free of Vector and Transgenic Sequences: In
Vitro and In Vivo Analysis. . NEUROLOGY, ISSN: 0028-3878
328 Riboldi G, Nizzardo M, Nardini M, Simone C, Falcone M, Ronchi D, Donadoni C, Salani S,
Pag. 162 di
Magri F, Bresolin N, Comi G, Corti S (2011). In vitro and in vivo analysis of motoneurons obtained
from human-spinal muscular atrophy-induced pluripotent stem cells free of vector and transgenic
sequences. JOURNAL OF NEUROLOGY, vol. 258, p. 81, ISSN: 0340-5354
329 Ripolone M., Lamperti C., Scionti I., Servida M., Govi M., Peverelli L., Ciscato P., Napoli L.,
Crugnola V., Del Bo R., Comi G, Sciacco M., Tupler R., Moggio M. (2011). Intrafamilial
phenotype-genotype variability in FSHD. . ACTA MYOLOGICA, ISSN: 1128-2460
330 Magri F, Del Bo R, D'Angelo MG, Gandossini S, Corti S, Lucchini V, Napoli L, Moggio M,
Comi G (2011). LGMD2L in Italian population: New mutations and clinical and morphological
aspects. NEUROMUSCULAR DISORDERS, vol. 21, p. 675, ISSN: 0960-8966, doi:
10.1016/j.nmd.2011.06.872
331 D’Angelo M.G., Lorusso M.L., Civati F., Comi G, Magri F., Del Bo R., Bonato S., Gandossini
S., Turconi A.C., Bresolin N. (2011). Neurocognitive profile in Italian DMD children and gene
mutation site. . ACTA MYOLOGICA, ISSN: 1128-2460
332 Pagliarani S, Redaelli E, Magri F, Modoni A, Lecchi M, Lucchiari S, Scarlato M, Silvestri G,
Sansone VA, Previtali S, Corti S, D'Amico A, Meola G, Lo Monaco M, Wanke E, Comi G (2011).
New Mutations in SCN4A and Their Biophysical Properties. NEUROLOGY, vol. 76, p. A530,
ISSN: 0028-3878
333 S. Pagliarani, E. Redaelli, F. Magri, A. Modoni, M. Lecchi, S. Lucchiari, M. Scarlato, G.
Silvestri, V. Sansone, S. Previtali, S.P. Corti, A. D’Amico, G. Meola, M. Lo Monaco, E. Wanke,
G.P. Comi (2011). New mutations in SCN4A and their biophysical properties. NEUROLOGY, vol.
76, p. A530, ISSN: 0028-3878
334 Del Bo R, Tiloca C, Pensato V, Corrado L, Ratti A, Corti S, Castellotti B, Luciano B, Soraru
G, Cereda C, Mazzini L, Ticozzi N, Gellera C, Comi G, Silani V (2011). Optineurin Gene
Mutations in a Cohort of Italian Amyotrophic Lateral Sclerosis Patients. NEUROLOGY, vol. 76, p.
A220, ISSN: 0028-3878
335 Del Bo R., Corti S., Riboldi G., Ranieri M., Fenoglio C., Galimberti D., Scarpini E.,
Bresolin N, Comi G. C9ORF72 Hexanucleotide Repeat Expansion in a Cohort of Italian Patients
Affected by Amyotrophic Lateral Sclerosis with and without Frontotemporal Dementia, 64th
Annual Meeting of American Academy of Neurology, New Orleans, USA April 25, 2012.
Neurology 2012
336 Corti S, Nizzardo M, Simone C, Falcone M, Nardini M, Ronchi D, Donadoni C, Salani S,
Riboldi G, Menozzi G, Bonaglia C, Magri F, Bresolin N, Comi GP. Gene Corrected Spinal
Muscular Atrophy-Induced Pluripotent Stem Cells and Motoneuron as a Model and Cell Source for
Transplantation. 64th AAN annual meeting, New Orleans, April 21-28, 2012. Neurology, vol 78,
April 25, 2012, IN8-2.002
337 Corti S, Nizzardo M, Simone C, Falcone M, Nardini M, Ronchi D, Donadoni C, Salani S,
Riboldi G, Menozzi G, Bonaglia C, Magri F, Bresolin N, Comi GP. Gene Corrected Spinal
Muscular Atrophy-Induced Pluripotent Stem Cells and Motoneuron as a Model and Cell Source for
Transplantation. 64rd AAN annual meeting, New Orleans, April 21-28, 2012. Neurology, vol 78,
April 24, 2012, P03.176.
338 Nizzardo M., Simone C., Falcone M., Rizzo F., Salani S., Faravelli I., Zanetta C., Ruggieri
M., Bresolin N., Comi G.P., Corti S. Unmodified and Octa-guanidine morpholino Restores SMN
Pag. 163 di
Expression in CNS and Ameliorates phenotype in SMA Mice. FSMA Annual Meeting,
Minneapolis, USA, June 20-24 2012.
339 Riboldi G, Nizzardo M, Nardini M, Simone C, Falcone M, Ronchi D, Donadoni C, Salani S,
Magri F, Rizzo F, Ranieri M, Govoni A, Faravelli I, Zanetta C, Bresolin N, Comi G, Corti S.
Genetic correction of spinal muscular atrophy-induced pluripotent stem cells and motoneurons as a
disease model and cell source for transplantation. 22nd Meeting of the European Neurological
Society, Prague, June 9-12, 2012. Journal of Neurology, vol 259, suppl. 1, S138, 2012.
340 Ranieri M, Ronchi D, Bordoni A, Rizzuti M, Moggio MG, Sciacco M, Govoni A, Riboldi G,
Messina S, Silani V, Corti S, Bresolin N, Comi GP. CPEO due to mutations in the tRNA for
isolucine: two additional Italian cases. 22nd Meeting of The European Neurological Society,
Prague, June 9-12, 2012. Journal of Neurology, vol 259, suppl. 1, S184, 2012.
341 Corti S., Nizzardo M., Simone C., Falcone M., Nardini M., Ronchi D., Donadoni C., Salani
S., Riboldi G., Menozzi G., Bonaglia C., Rizzo F., Magri F., Bresolin N., Comi G. Targeted gene
correction of spinal muscular atrophy–induced pluripotent stem cells and motor neurons as a model
and for cell therapy. SFN meeting, Oct. 13-17 2012
342 Nizzardo M., Simone C., Falcone M., Rizzo F., Salani S., Faravelli I., Zanetta C, Ruggieri
M., Bresolin N., Comi GP, Corti S. Unmodified and Octa-guanidine morpholino Restores SMN
Expression in CNS and Ameliorates phenotype in SMA Mice. SFN meeting Oct. 13-17 2012
343 Ronchi D., Vallejo D., Ripolone M., Melzi V., Fagiolari G., Lucchini V., Violano R.,
Bordoni A., Lamperti C., Villa L., Corti S., Balottin U., Bresolin N., Sciacco M., Berardinelli A.,
Moggio M., Comi G. Muscle cytochrome c oxidase defect and mitochondrial DNA depletion in
spinal muscular atrophy. SFN meeting Oct. 13-17 2012
344 Gellera C., Tiloca C., Del Bo R., Corrado L., Pensato V., Agostini J, Cereda C., Ratti A.,
Castellotti B., Corti S., Bagarotti A., Cagnin A., Milani P., Gabelli C., Riboldi G., Mazzini L.,
Sorarù G., D'Alfonso S., Taroni F., Comi G. P., Ticozzi N., Silani V.. Ubiquilin 2 mutations in
Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia. 62nd Annual
Meeting of the American Society of Human Genetics, San Francisco 2012
345 Corti S, Nizzardo M, Simone C, Rizzo F, Ruggieri M, Salani S, Brajkovic S, Faravelli I,
Zanetta C, Bresolin N, Comi GP. Transplantation of iPSDs-Derived Neural Stem Cells as
Therapeutic Approach for Amyotrophic Lateral Sclerosis, 65th Annual Meeting of American
Academy of Neurology, March 16 to March 23, Neurology 2013.
346 Corti S, Nizzardo M, Simone C, Salani S, Rizzo F, Ruggieri M, Brajkovic S, Faravelli I,
Zanetta C, Magri F, Bresolin N, Comi GP. Rescue of the Spinal Muscular Atrophy Phenotype in
Mouse by Unmodified and Octa-Guanidine-Conjugated Morpholino Oligomers, 65th Annual
Meeting of American Academy of Neurology, March 16 to March 23, Neurology 2013.
347 Magri F, Del Bo R, Fortunato F, D’Angelo MG, Govoni A, Brusa R, Brajkovic S, Corti S,
Bresolin N, Moggio M, Comi GP. The Expanding Spectrum of LAMA2 Gene Mutations: From
Congenital Muscular Dystrophy 1A to Limb Girdle Muscular Dystrophy 2R, 65th Annual Meeting
of American Academy of Neurology, March 16 to March 23, Neurology 2013.
348 Piga D, Ronchi D, Magri F, Corti S, Ghezzi S, Mercuri E, Bertini E, Toscano A, Moroni I,
Moggio M, D'Angelo MG, Bruno C, Bresolin N, Comi GP. Next Generation Sequencing in the
Analysis of an Italian Cohort of Patients Affected by Nemaline Myopathy , 65th Annual Meeting
of 164 di
Pag.
American Academy of Neurology, March 16 to March 23, Neurology 2013.
349 Corti S and Hedlund E. Identification of oculomotor-restricted genes with motor neuron
protective properties for the development of ALS therapeutics. TLF meeting
350 Corti S, Nizzardo M, Simone C, Rizzo F, Ruggieri M, Salani S, Brajkovic S, Faravelli I,
Zanetta C, Bresolin N and Comi GP. iPSCs-derived neural stem cells as a therapeutic approach for
amyotrophic lateral sclerosis. ENCALS 2013 meeting.
351 Simone C., Ruggieri M., Nizzardo M., Rizzo F., Riboldi G., Salani S., Faravelli I., Zanetta
C., Bresolin N., Comi G.P., Corti S. Genome editing strategies for the development of a therapy for
SMA. FSMA 2013 meeting
352 Nizzardo M, Simone C, Salani S, Ruepp M, Rizzo F, Ruggieri M, Brajkovic S, Moulton H,
Muehlemann O, Bresolin N, Comi GP, Corti S. Combined systemic and local morpholino
treatment rescues the phenotype of SMA Δ7 mouse model. FSMA 2013 meeting
353 Ranieri M, Ronchi D, Di Fonzo A, Lin W, Bordoni A, Liu C, Fassone E, Pagliarani S,
Rizzuti M, Zheng L, Filosto M, Ferro MT, Magri F, Peverelli L, Li H, Yuan YC, Corti S, Sciacco
M, Moggio M, Bresolin N, Shen B, Comi GP. Mutations in DNA2 cause progressive myopathy
with mtDNA instability. 23rd Meeting of The European Neurological Society, Barcelona June 811, 2013. Journal of Neurology, vol 260, suppl. 1, S246, 2012.
354 Govoni A, Angelini C, Mongini T, Toscano A, Siciliano G, Tomelleri G, Mora M, Nigro V,
Elena P, Musumeci O, Ricci G, Moroni I, Del Bo R, Brajkovic S, Fortunato F, Ronchi D, Riboldi
G, Ranieri M, Corti S, Moggio M, Bresolin N, Magri F, Comi GP. The Italian limb girdle muscular
dystrophies (LGMD) registry: molecular and clinical data. 23rd Meeting of The European
Neurological Society, Barcelona June 8-11, 2013. Journal of Neurology, vol 260, suppl. 1, S246,
2012
355 Ronchi D, Di Fonzo A, Bordoni A, Rizzuti M, Melzi V, Corti S, Sciacco M, Moggio M,
Bresolin N, Comi GP. Heterogeneous genetic landscape in Italian patients affected by adult onset
mitochondrial disorders featuring muscle mtDNA instability. Mitochondrial Disease: Translating
biology into new treatments. Cambridge (UK), Octotber 2-4, 2013.
356 Corti S, Nizzardo M, Simone C, Rizzo F, Ruggieri M, Salani S, Faravelli I, Zanetta C,
Riboldi G, Brajkovic S, Bresolin N, Comi GP. Amyotrophic lateral sclerosis: new therapeutic
perspectives offered by iPSCs-derived neural stem cells. Alsmnd meeting 2013;
357 Ruggieri M, Simone C, Nizzardo M, Rizzo F, Riboldi G, Salani S, Faravelli I, Zanetta C,
Bresolin N, Comi GP, Corti S. Targeted Genome Editing for developing novel therapeutic
approaches for SMA. Alsmnd meeting 2013;
358 Ruggieri M, Simone C, Nizzardo M, Rizzo F, Riboldi G, Salani S, Zanetta C, Faravelli I,
Bresolin N, Comi GP, Corti S Genome editing strategies for the development of a treatment for
SMA SFN 2013
359 Rizzo F, Nizzardo M, Simone C, Ruggieri M, Salani S, Faravelli I, Zanetta C, Bresolin N,
Comi GP, Corti S. iPSCs-derived neural stem cells transplantation as therapeutic strategy for
amyotrophic lateral sclerosis. SFN 2013
360 Monica Nizzardo, Chiara Simone, Federica Rizzo, Monica Bucchia, Sara Dametti, Agnese
Ramirez, Stefania Corti, ALS therapy via transplantation of an iPSC-derived LeX+CXCR4+VLA4+
Pag. 165 di
neural stem cell subpopulation, ENCALS meeting Leuven 2014
361 Monica Nizzardo, Federica Rizzo; Chiara Simone; Margherita Ruggieri; Sabrina Salani; Monica
Bucchia; Agnese Ramirez, Chiara Zanetta, Nereo Bresolin; Giacomo Comi; Stefania Corti;
Amelioration of spinal muscular atrophy phenotype by RNA therapy inducing SMN increase or
modulation of secondary cell death events. Families of SMA Washington 2014
362 Chiara Simone, Monica Nizzardo, Federica Rizzo, Margherita Ruggieri, Giulietta Riboldi,
Sabrina Salani, Monica Bucchia, Sara Dametti, Agnese Ramirez, Gianna Ulzi, Paola Rinchetti,
Francesca Porro, Nereo Bresolin, Giacomo P. Comi and Stefania Corti iPSC-derived neural stem cells
act via kinasein hibition to exert neuroprotective effects in SMARD1submitted to SFN 2014
Pag. 166 di
Lavori pubblicati come Abstracts a congressi nazionali:
1.
Bresolin N., Moggio M., Bet L., Pellegrini G., Comi G., Jann S., Scarlato G.
Mitochondrial myopathy with Complex I deficiency.
23rd Annual Meeting of the Italian Neurolopathological Association, Padova, Italy,
June 4-6, 1987.
The Italian Journal of Neurological Sciences, Vol. 8, 2, 1987.
2.
Palmucci L., Doriguzzi C., Mongini T., Gagliano A., Comi G., Bet L., Bresolin N.
Thyroid agenesis and hypogonadism in progressive external ophthalmoplegia with
mitochondrial changes.
23rd Annual Meeting of the Italian Neuropathological Association, Padova, Italy,
June 4-6, 1987.
The Italian Journal of Neurological Sciences, Vol. 8, 2, 1987.
3.
Comi G., Bresolin N., Bossoni G., Ratti E., Bet L., Baggio A., Scarlato G.
Acetyl-L-Carnitine improves the oxidative metabolism of the brain in old rats.
23rd Annual Meeting of the Italian Neuropathological Association, Padova, Italy,
June 4-6, 1987.
The Italian Journal of Neurological Sciences, Vol. 8, 2, 1987.
4.
Bresolin N., Bet L., Meola G., Moggio M., Adobbati L.,Comi G., Martucci G.,
Fortunato F., Gilardi A., Scarlato G.
Expression of a new human muscle defect, Glucose-6-Phosphate Dehydrogenase
Deficiency (G6PD), in tissue culture.
II Congresso Nazionale della Federazione Italiana per lo Studio delle Malattie
Ereditarie (FISME), Patologia genetica ad esordio tardivo. Siena. 26-28 ottobre
1987.
5.
Comi G., Bresolin N., Bossoni G., Ratti E., Bet L., GirelliM., Baggio A.,
Scarlato G.
Studio biochimico e polarografico sull'invecchiamento cerebrale in ratti trattati con LAcetil Carnitina.
XXV Congresso Nazionale della Societa' Italiana di Neurologia. Atti, 195.
Bologna, 30 novembre-3 dicembre 1987.
6.
Bresolin N., Bet L., Moggio M., Meola G., Comi G., Gilardi A., Cassi E.,
Scarlato G.
Deficit di Glucosio 6 Fosfato Deidrogenasi nel muscolo: un nuovo difetto
enzimatico.
XXV Congresso Nazionale della Societa' Italiana di Neurologia. Atti, 281.
Bologna, 30 novembre-3 dicembre 1987.
7.
Moggio M., Bresolin N., Bet L., Binda A., Carenzi A., Comi G., Scarlato G.
Miglioramento cardiaco dopo trattamento con Coenzima Q in pazienti con miopatia
mitocondriale e Kearns-Sayre Syndrome.
XXV Congresso Nazionale della Societa' Italiana di Neurologia. Atti, 384.
Bologna, 30 novembre-3 dicembre 1987.
Pag. 167 di
8.
Bet L., Bresolin N., Moggio M., Comi G., Adobbati L., Scarlato G.
Approccio biochimico-morfologico di una miopatia mitocondriale con deficit di
complesso I.
XXV Congresso Nazionale della Societa' Italiana di Neurologia. Atti, 378.
Bologna, 30 novembre -3 dicembre 1987.
9.
G. Comi, S.Pifferi, G.Meola, C.Ausenda, N.Bresolin
Deficienza muscolare di Galattosio -1- fosfato uridil transferasi.
V Congresso Nazionale FISME (Federazione Italiana per lo studio delle malattie
ereditarie). Perugia 22-26 Ottobre 1990. pg.218.
10. N. Bresolin, E. Castelli, G. Comi, D. Perani, A. Turconi, P. Fraschini, S. Pifferi, D.
Gallotti, E. Marchi, R. Garghentino, G. Moretti, G. Scarlato.
Mental retardation in DMD: neuropsychological, genetic and NMR-PET
correlations.
XXVII Congresso Associazione Italiana di Neuropatologia. Taormina-Messina 23- 25
Maggio 1991.
Clinical Neuropathology, 10, 3, 145.
11. A. Gallanti, A. Prelle, P. Ciscato, G. Fagiolari, N. Checcarelli, M, Sciacco, A.
Comini, G. Comi, S. Pifferi, M. Moggio, G. Scarlato.
Retrospective study of neuromuscular patients using anti-dystrophin antibodies.
XXVII Congresso Associazione Italiana di Neuropatologia. Taormina-Messina 23- 25
Maggio 1991.
Clinical Neuropathology, 10, 3, 152.
12. C. Mariani, E. Farina, E. Calabrese, S. Pifferi, G. Comi, N. Bresolin, G. Meola, G.
Rotondo, G. Scarlato.
Muscle culture in Alzheimer's diseases: biochemical findings.
XXVII Congresso Associazione Italiana di Neuropatologia. Taormina-Messina 23- 25
Maggio 1991.
Clinical Neuropathology, 10, 3, 157.
13. Chianese L., A. Prelle, A. Gallanti, P. Ciscato, N. Checcarelli, M. Sciacco, G.
Comi, S. Pifferi, E. Scarpini, M. Moggio, G. Scarlato.
Progressive expression of dystrophin in normal human fetal muscle.
XXVII Congresso Associazione Italiana di Neuropatologia.Taormina-Messina 23- 25
Maggio 1991.
Clinical Neuropathology, 10,147, 1991.
14. Comi G.P., N. Bresolin, A. Prelle, S. Pifferi, F. Fortunato, A. Gallanti, G. Scarlato.
Hereditary quadriceps myopathy with normal dystrophin morphology.
XXVII Congresso Associazione Italiana di Neuropatologia.Taormina-Messina 23- 25
Maggio 1991.
Clinical Neuropathology, 10, 148 1991.
15. Comi G.P., Turconi A, Perani D., Castelli E., Garghentino R., Fraschini P, Baraldi E,
Bresolin N, Scarlato G.
Distrofia muscolare di Becker con deficit neuropsicologici multipli: correlazioni
genetiche, morfologiche, RMN e PET.
Federazione Italiana per lo Studio delle Malattie Ereditarie.
Pag. 168 di
VI Congresso Nazionale. Atti (Monduzzi ed., Bologna), 179-189, 1991.
16. Castelli E., Bresolin N., Comi G.P., Turconi A., Fraschini P., Garghentino R.,
Moretti G, Scarlato G.
Il ritardo mentale nella Distrofia Muscolare di Duchenne.
Federazione Italiana per lo Studio delle Malattie Ereditarie.
VI Congresso Nazionale. Atti (Monduzzi ed., Bologna), 495-499, 1991.
17. Bresolin N., Castelli E., Comi G., Perani D., Turconi A., Baraldi E., Scarlato G.
Multidisciplinary approaches to Duchenne Muscular Dystrophy (DMD) patients: an
original protocol.
XXVII National Congress of the Italian Neurological Society. Italian J Neurol Sci,
Suppl 12, 23, 1991.
18. Calabrese E., Comi G., Rotondo G., Velicogna M., Meola G., Bresolin N., Scarlato G.
Mariani C.
Muscle cultures in Alzheimer's diseases: biochemical and morphological findings.
XXVII National Congress of the Italian Neurological Society. Italian J Neurol Sci,
Suppl 12, 46, 1991.
19. Gabellini A.S., Lodi R., De Massis P., Bresolin N., Comi G.P., Fedeli F., Mariani M.,
Zaniol P., Barbiroli B., Sacquegna T.
Familial ptosis with reduced muscle and brain mitochondrial function.
XXVII National Congress of the Italian Neurological Society. Italian J Neurol Sci,
Suppl 12, 72, 1991.
20. Turconi A., Bresolin N., Fraschini F., Comi G.P., Baraldi E., Crimella G.L.
Is physiotherapic treatment useful in Duchenne Muscular Dystrophy?
XXVII National Congress of the Italian Neurological Society. Italian J Neurol Sci,
Suppl 12, 77, 1991.
21. Ravasio A., Piscaglia M.G., Bresolin N., Pasquinelli M., Moggio M., Comi G.,
Lorusso S., Curro' Dossi B.
Multiple deletions of the mitochondrial genome in an autosomal dominant inherited
chronic progressive ophthalmoplegia.
XXVII National Congress of the Italian Neurological Society. Italian J Neurol Sci,
Suppl 12, 62, 1991.
22. Calabrese SE., Pifferi S., Farina E., Rotondo G., Comi G.
Malattia di Alzheimer: studio morfologico e biochimico in mioblasti in coltura.
Societa' Italiana di Neuroscienze. II Convegno Nazionale Giovani Cultori delle
Neuroscienze.
Firenze, 28-30 novembre. Atti, 26. 1991.
23. N.Bresolin, P.Amati, G.P. Comi, S.Sorbi, I.Moroni, L.Amaducci, G. Scarlato.
Delezioni del DNA mitocondriale in tessuto cerebrale e muscolare
nell'invecchiamento e nella malattia di Alzheimer.
pg.108
Consiglio Nazionale delle Ricerche. Progetto Finalizzato
Invecchiamento. I Convegno Nazionale Roma 10-11 Gennaio 1992
Pag. 169 di
24. Fraschini P., R. Garghentino, C. Turconi, E. Castelli, E. Marchi, N. Bresolin, G.
Comi.
Standardizzazione e monitoraggio riabilitativo inter-disciplinare nella distrofia
muscolare Duchenne con l'ausilio informatico.
I Meeting Regionale di Medicina Fisica e Riabilitazione, S.I.M.F.E.R. Societa'
Italiana di Medicina Fisica e Riabilitazione, Gruppo Regionale Lombardia.
Gardone Riviera, 25-26 aprile 1992 In: La Riabilitazione: Identita' e prospettive.
Atti, pg 86-90.
25. N.Bresolin, G.P.Comi, P.Ninfali, G.Meola, G. Scarlato.
Muscular G6PD deficiency: a definite clinical syndrome?
28th Annual Meeting of the Italian Neuropathological Association
May 21-23, 1992 Sabaudia.
Clinical neuropathology, 11, 2, pg. 89, 1992.
26. E.Castelli, N.Bresolin, A.Turconi, G.P. Comi, G.Moretti
Mental Retardation in Duchenne muscular dystrophy.
28th Annual Meeting of the Italian Neuropathological Association
May 21-23, 1992 Sabaudia.
Clinical neuropathology, 11, 2, pg. 90, 1992.
27. N.Checcarelli, A.Prelle, M. Moggio, G.Comi, A.Bordoni, N.Bresolin.
Hypokalemic periodic paralysis with alterations of mitochondrial DNA.
28th Annual Meeting of the Italian Neuropathological Association
May 21-23, 1992 Sabaudia.
Clinical neuropathology, 11, 2, pg. 91, 1992.
28. M.T. Ferro', G. Vita, A. Toscano, G. Comi, F. Fortunato, N. Bresolin, A. Fiunara, R.
Falsaperla, F.A. Saad, G.A. Danieli., C. Messina.
Duplication of dystrophin gene and clinical involvement of intermediate type.
28th Annual Meeting of the Italian Neuropathological Association
May 21-23, 1992 Sabaudia.
Clinical neuropathology, 11, 2, pg. 93-94, 1992.
29. G.P. Comi, N.Bresolin, P. Amati, S.Sorbi, A.Fassati, L.Amaducci, C.Mariani,
G.Scarlato.
Mitochondrial DNA deletions in muscle and brain tissues in ageing and in
Alzheimer disease.
28th Annual Meeting of the Italian Neuropathological Association May 21-23 ,
1992 Sabaudia.
Clinical neuropathology, 11, 2, pg. 91, 1992.
30. A.Gallanti, G. Comi, A.Prelle, P.Ciscato N.Bresolin, G.Scarlato.
Congenital myopathy with accumulation of desmin and dystrophin.
28th Annual Meeting of the Italian Neuropathological Association, May 21-23 ,
1992, Sabaudia.
Clinical neuropathology, 11, 2, pg. 93, 1992.
31. G.P. Comi, N. Bresolin, A. Fassati, L. Amaducci, S. Sorbi,G. Scarlato.
"Common deletion" del DNA mitocondriale nell'invecchiamento e nella Malattia di
Alzheimer
Pag. 170 di
37o Congresso Nazionale della Societa' Italiana di Gerontologia e Geriatria. 8/11
Novembre 1992, Milano.
Giornale di Gerontologia, Vol 40 (11), pg 568-569, 1992.
32. N Bresolin, F Mazzucchelli, M Velicogna, MG D'Angelo, GP Comi, F Fortunato, I
Moroni.
Ageing: analisi dei parametri di cinetica cellulare e studio biochimico mitocondriale
in cloni miogenici umani
II Convegno Nazionale CNR, Roma 27-29 Maggio 1993
33. G. Ciucci, A.R. Guidi, A. Prelle, G.P. Comi, N. Bresolin, C.A. Tassinari, G.C.
Rebucci.
Encefalomiopatia tipo MELAS: descrizione di un caso.
XXXIII Congresso Nazionale Societa' dei Neurologi, Neurochirurghi e
Neuroradiologi Ospedalieri (S.N.O.).
Vasto Marina, 20-22 Maggio 1993.
Raccolta degli Abstracts.
34. M.G. Piscaglia, A. Ravasio, M. Pasquinelli, C. Cifarisi, G.P. Comi, N. Bresolin, B.
Curro' Dossi .
Tre casi di epilessia in una famiglia con oftalmoplegia cronica progressiva.
XXXIII Congresso Nazionale Societa' dei Neurologi, Neurochirurghi e
Neuroradiologi Ospedalieri (S.N.O.).
Vasto Marina, 20-22 Maggio 1993.
Raccolta degli Abstracts.
35. A. Ravasio, M.G. Piscaglia, M. Pasquinelli, C. Cifarisi, N. Bresolin, G.P. Comi, B.
Curro' Dossi.
Encefalomiopatie mitocondriali: casi familiari e casi sporadici osservati presso la
divisione di Neurologia di Rimini.
XXXIII Congresso Nazionale Societa' dei Neurologi,
Neurochirurghi e Neuroradiologi Ospedalieri (S.N.O.).
Vasto Marina, 20-22 Maggio 1993.
Raccolta degli Abstracts.
36.
N.Bresolin, GP Comi, A.Fassati, G.Scarlato.
Mitocondrial DNA mutations and ageing.
European Journal of Histochemistry 37 suppl 1993
Congresso Nazionale della Societa' italiana di istochimica.
Taormina 23-24 Maggio 1993.
37.
Bresolin N, Amati P, Comi GP, Sorbi S, Moroni I, Amaducci L.
Delezioni del DNA mitocondriale in tessuto cerebrale e muscolare nell'invecchiamento e
nella malattia di Alzheimer.
Consiglio Nazionale delle Ricerche. Progetto Finalizzato Invecchiamento. II Convegno
Nazionale. Roma 27/28/29 Maggio 1993.
38.
L. Bet, N. Checcarelli, M. Moggio, A. Prelle, E. Scarpini, P. Bazzi, S. Messina, C.
Mariani, A. Bordoni, G. Comi, G. Scarlato.
Mitochondrial myopathy associated with definite multiple sclerosis.
Pag. 171 di
29th Annual Meeting of the Italian Neuropathological Association. Verona, June 1719, 1993.
Clinical Neuropathology, Vol 12, Supplement 1, pg S37-38.
39.
N. Checcarelli, A. Prelle, M. Moggio, G. Fagiolari, A., Battistel, P. Bazzi, S. Messina,
A. Bordoni, G. Comi, P. Amboni, G. Scarlato.
Mitochondrial myopathy: pathogenesis of the oxidative defect.
29th Annual Meeting of the Italian Neuropathological Association. Verona, June 1719, 1993.
Clinical Neuropathology, Vol 12, Supplement 1, pg S53.
40.
F. Mazzucchelli, M.G. D'Angelo, N. Bresolin, G.P. Comi, N. Fonzi, M. Velicogna, M.
Moggio, M.T. Ramacci, S. Rapuzzi, G. Scarlato.
Effects of zidovudine on massive human muscle cultures: morphology, genetics and
biochemistry.
29th Annual Meeting of the Italian Neuropathological Association. Verona, June 1719, 1993.
Clinical Neuropathology, Vol 12, Supplement 1, pg S54.
41.
I Moroni, EF Gonano, V Tegazzin, GP Comi, P Amboni, N Bresolin, G Scarlato.
C1840->T point mutation in the RYR gene in a family susceptible for malignant
hyperthermia
29th Annual Meeting of the Italian Neuropathological Association. Verona, June 1719, 1993.
Clinical Neuropathology, Vol 12, Supplement 1, pg S56-57.
42.
A. Prelle, M. Moggio, N. Bresolin N, P. Comi, N. Checcarelli, A. Gallanti, C.
Rigoletto, A. Bordoni, G. Scarlato.
Atypical mitochondrial encephalomyopathies associated with multiple deletions of
mitochondrial DNA.
9th Annual Meeting of the Italian Neuropathological Association. Verona, June 1719, 1993.
Clinical Neuropathology, Vol 12, Supplement 1, pg S60.
43.
N.Bresolin, Comi GP, Mazzucchelli, Prelle A,Scarlato G.
Eterogeneita' fenotipica delle mitocondriopatie.
III Congresso Nazionale di cardioneurologia. Pavia Prevenzione Cardiovascolare pg 87,
Ottobre 1993.
44.
A. Bardoni, G.P. Comi, A. Prelle, N. Bresolin, M. Moggio, G. Vita, A. Toscano, G.
Felisari, E. Castelli, G. Scarlato.
Clinical variability in Becker muscular dystrophy (BMD): genetic, biochemical and
immunohistochemical correlates.
XXVIII National Congress of the Italian Neurological Society. Firenze 2-6
novembre 1993.
The Italian Journal of Neurological Sciences, 7, Supplement 14, pg. 7, 1993.
45.
E. Castelli, N. Bresolin, G. Comi, A. Turconi, M. Moggio.
Cognitive deficits of Duchenne Muscular Dystrophy carriers and their affected sons:
a direct correlation.
Pag. 172 di
XXVIII National Congress of the Italian Neurological Society. Firenze 2-6
novembre 1993.
The Italian Journal of Neurological Sciences, 7, Supplement 14, pg. 48, 1993.
46.
E.F. Gonano, I. Moroni, N. Bresolin, G.P. Comi, S. Rapuzzi,G. Scarlato.
Anaesthetic-induced rhabdomyolisis: MH-like reaction?
XXVIII National Congress of the Italian Neurological Society. Firenze 2-6
novembre 1993.
The Italian Journal of Neurological Sciences, 7, Supplement 14, pg. 51, 1993.
47.
Rigoletto C., Prelle A., Moggio M., Ciscato P., Comi P., Bardoni A., Scarlato G.
Expression of dystrophin positive fibers in Duchenne Muscular Dystrophy.
XXVIII National Congress of the Italian Neurological Society. Firenze 2-6
novembre 1993.
The Italian Journal of Neurological Sciences, 7, Supplement 14, pg. 57, 1993.
48.
Mazzucchelli F, Bresolin N., D'Angelo M.G:, Velicogna M., Comi G.P., Amboni P.,
Scarlato G.
Ageing: mitochondria modifications may represent one causative factor?
XXVIII National Congress of the Italian Neurological Society. Firenze 2-6
novembre 1993.
The Italian Journal of Neurological Sciences, 7, Supplement 14, pg. 93, 1993.
49.
A.Bardoni, E.Ciafaloni, G.P. Comi, N.Bresolin, M.Robotti , A.Roses
Frame-restoring mechanism at the mRNA level in a Becker muscular dystrophy
patient with out-of-frame deletion.
30th meeting of the Italian Neuropathological Association.
Saint Vincent (Aosta) 29 Giugno 1994.
Clinical neuropathology, 13, 143, 1994.
50.
A.Battistel, G.Comi, A.Prelle, M.Moggio, N.Bresolin, G.Scarlato
MELAS mutation at position 3243 of mtDNA in a progressive external
ophthalmoplegia (PEO) family.
30th meeting of the Italian Neuropathological Association.
Saint Vincent (Aosta) 29 Giugno 1994 pg 143.
51.
G.P.Comi, E.Ciafaloni, A.Bardoni, N.Bresolin, M.Moggio, G.Scarlato
Absence of muscle and nerve specific dystrophin isoforms in a congenital myopathy
patient.
30th meeting of the Italian Neuropathological Association.
Saint Vincent (Aosta) 29 Giugno 1994 pg 148.
Clinical neuropathology, 13, 143, 1994.
52.
I.Moroni, E.F. Gonano, G.P. Comi, N.Bresolin, G.Scarlato
The ryanodine gene in central core disease and malignant hyperthermia.
30th meeting of the Italian Neuropathological Association.
Saint Vincent (Aosta) 29 Giugno 1994.
Clinical neuropathology, 13, 160, 1994.
53.
V.Sansone, G.Rotondo, G.Comi, N.Bresolin, G.Meola.
Pag. 173 di
Clinical variability and age-related mtDNA muscle lesions in mitochondrial
dysfunction associated with multiple lipomatosis.
30th meeting of the Italian Neuropathological Association.
Saint Vincent (Aosta) 29 Giugno 1994.
Clinical neuropathology, 13, 165, 1994.
54.
G.Felisari, E.Castelli, G. Comi, N.Bresolin, et al.
Dallo studio neuropsicologico e PET nella distrofia muscolare di Duchenne all'ipotesi sul
ruolo del cervelletto nei processi cognitivi.
Riunione della Societa' Italiana di Neuroscienze.Bosisio Parini
15 Ottobre 1994.
55.
E.Gonano, I.Moroni, G. Comi, N.Bresolin.
Procedure Diagnostiche per l'accertamento di suscettibilita' ad ipertermia maligna : test in
vitro con caffeina ed alotano e indagini molecolari.
Riunione della Societa' Italiana di Neuroscienze.Bosisio Parini
15 Ottobre 1994.
56.
Ausenda C., D'Angelo M., Gallanti A., Del Bo R., De Liso A., Comi G.P., Bresolin
N., Scarlato G.
Forced MyoD Expression trans-activates physiological promoters driving the expression
of a reporter gene: a potential approach to myoblast mediated gene transfer.
XXXI Congress of the Italian Association of Neuropathology, Pavia 21-24 June
1995.
Neuropathology and Applied Neurobiology, 21 (S 1), 33, 1995
57.
D'Angelo M.G., Ausenda C.D., Nesti S., Bordoni A., Mazzucchelli F., Comi G.,
Bresolin N., Scarlato G.
5' aza-cytidine treatment of permanently transformed myogenic cell lines is effective in
enhancing the exogenous gene expression.
XXXI Congress of the Italian Association of Neuropathology, Pavia 21-24 June
1995.
Neuropathology and Applied Neurobiology, 21 (S 1), 39-40, 1995
58.
Del Bo R., Bresolin N., Castelli E., Ausenda C., Comi G.P., Conti E., Poggi G.,
Felisari G.
Apolipoprotein E polymorphism and Down's syndrome
XXXI Congress of the Italian Association of Neuropathology, Pavia 21-24 June
1995.
Neuropathology and Applied Neurobiology, 21 (S 1), 40, 1995
59.
Mazzucchelli F., Ausenda C.D., Del Bo R., D'Angelo M.G., Comi G.P., Bordoni
A., Bresolin N., Scarlato G.
AZT treatment of fetal rat neuronal cell cultures did not show any alteration of
mitochondrial DNA replication mechanism but the transcription and the translation
processes were inhibited.
XXXI Congress of the Italian Association of Neuropathology, Pavia 21-24 June
1995.
Neuropathology and Applied Neurobiology, 21 (S 1), 51, 1995
Pag. 174 di
60.
Ausenda C.D., Cattaneo E., D'Angelo M.G., Del Bo R., Perini M.P., Torrente Y.,
Nesti S., Conti L., Comi G.P., Govoni S., Bresolin N., Scarlato G.
Cultured neural tissue is efficiently transfected by biolistic technique.
32nd Annual Meeting of the Italian Neuropathological Association. Parma, June 3-5,
1996
Clinical Neuropathology, 15, 163, 1996
61. Battistel A., Sciacco M., Prelle A., Comi G.P., Moggio M., Fagiolari G.,
Checcarelli A., Toscano A., Papadimitriou A., Scarlato G.
Clinical, morphological, biochemical and molecular genetic evaluation of a large
population of patients affected with mitochondrial encephalomyopathy.
32nd Annual Meeting of the Italian Neuropathological Association. Parma, June 35, 1996
Clinical Neuropathology, 15, 165, 1996
62. Bresolin N., Ausenda C.D., De Liso A., Torrente Y., D'Angelo M.G:, Gerundini P.,
Bruno A., Ciscato P., Moggio M., Comi G.P. Scarlato G.
Intra-arterial injection of myoblasts in MDX dystrophic mouse
32nd Annual Meeting of the Italian Neuropathological Association. Parma, June 35, 1996
Clinical Neuropathology, 15, 166, 1996
63. Comi G.P., Carpo M., Nobile-Orazio E., Rizzi C., Del Bo R., Battistel A.
Scarlato G.
PROMM syndrome without trinucleotide expansion.
32nd Annual Meeting of the Italian Neuropathological Association. Parma, June 35, 1996
Clinical Neuropathology, 15, 168, 1996
64. Rigoletto C., Comi G.P., Bresolin N., Prelle A., Bignotti V., Turconi A., Felisari G.,
Ciscato P., Salani S., Scarlato G.
Partial merosin deficiency in an atypical case of congenital muscular dystrophy.
32nd Annual Meeting of the Italian Neuropathological Association. Parma, June 35, 1996
Clinical Neuropathology, 15, 180-181, 1996
65. Checcarelli N, Beretta S, Spatat M, Orsenigo G, Comi G, Frattini T,
Pleiomorfismo fenotipico in un caso di encefalomiopatia mitocondriale con mutazione
puntiforme nt3243 del tRNA leu mtDNA.
Atti dell'8° Convegno della Sezione Lombarda della Societa' Italiana di Neurologia
(SIN). Castellanza, 12 aprile 1997. Pag. 115, 1997
66. A.Papadimitriou°, G.M.Hadjigeorgiou°, A.Patrikiou°, R.Divari°, F.Fortunato§, G.P.Comi§.
Congenital Muscular Dystrophy with Leucoencephalopathy and Merosin Deficiency
Department of Neurology,Red Cross Hospital,Athens,Greece.
§Department of Neurology,University of Milano,Italy
15th Panhellenic Neurological Congress.
Neurologia 1997;6(3):216
67. Ausenda CD, D'Angelo MG, Giorda R, Del Bo R, Perini MP, Colucci M, Bordoni A,
Comi GP, Bresolin N, Scarlato G.
Pag. 175 di
Towards the development of autologous transplant of myoblasts by tetracycline
modulation of myogenesis
33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997
Clinical Neuropathology, 16, 148, 1997
68. Baldessari S, Ausenda CD, D'Angelo MG, Sironi M, Ciscato P, Perini MP, Corti S,
Comi GP, Moggio M, Bresolin N, Scarlato G.
Towards the development of a gene therapy for mitochondrial diseases.
33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997
Clinical Neuropathology, 16, 148, 1997
69. GP Comi, A Bordoni, S Salani, L Franceschina, M Sciacco, N. Bresolin, F Fortunato, M
Zeviani, CD Ausenda, L Napoli, M Moggio, J-W Taanman, Guglielmo Scarlato.
Out-of-frame heteroplasmic microdeletion of cytochrome c oxidase subunit I gene in a
patient with muscle COX deficiency and motor neuron disease
33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997
Clinical Neuropathology, 16, 152, 1997
70. Franceschina L, Salani S, Bordoni A, Comi GP, Sciacco M, Hadjigeorgiou GM, Napoli
L, Ausenda C, Bresolin N, Scarlato G.
Search for rare mitochondrial DNA mutations by heteroduplex analysis in
mitochondrial myopathy patients.
33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997
Clinical Neuropathology, 16, 155, 1997
71. Martinelli F, Felisari G, Turconi A, Comi GP, Robotti M, Ausenda CD, Bresolun N,
Scarlato G.
Genetic and clinical aspects of 70 patients affected by Duchenne muscular dystrophy.
33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997
Clinical Neuropathology, 16, 159, 1997
72. Rodolico C, Toscano A, Celi MC, Agennouz M, Migliorato A, Bonsignore M,
Tortorella G, Blandino A, Comi GP, Franceschina S, Salani F, Guzzetta F, Vita G.
Clinical heterogeneity in three siblings with selective cerebellar vermis atrophy and
cytochrome c oxidase deficiency.
33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997
Clinical Neuropathology, 16, 159, 1997
73. Sciacco M, Prelle A, Napoli L, Comi GP, Bresolin N, Toscano A, Papadimitriou A,
Moggio M, Scarlato G.
Retrospective study of a large population of patients affected with mitochondrial
encephalomyopathies: single-fiber PCR study on a group of genetically undiagnosed
patients.
33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997
Clinical Neuropathology, 16, 166, 1997
74. Tancredi L, Prelle A, Rigoletto C, Comi GP, Ciscato P, Fortunato F, Nesti S, Felisari G,
Scarlato G.
Sarcoglycanopathies: frequency and clinico-genetic correlations in a large
population of myopathic patients.
Pag. 176 di
33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997
Clinical Neuropathology, 16, 170, 1997
75. Torrente Y, Bresolin N, Ausenda CD, De Liso A, D'Angelo MG, Casati R, Benti S, Corti
S, Comi G, Scarlato G.
Extracorporeal circulation of myogenic cells of myogenic cells opens new perspectives in
DMD gene therapy.
33rd Annual Meeting of the Italian Neuropathological Association. Pisa, June 1997
Clinical Neuropathology, 16, 171, 1997
76. Comi GP, Hadjigeorgiou Y, Franceschina L, Bordoni A, Salani S, Nesti S, Toscano A,
Rodolico C, Piscaglia MG, Prelle A, Mantegazza R, Bertagnolio B, Shen J, Chen YT,
Papadimitriou A, Bresolin N, Scarlato G.
Mutation analysis of Glycogen debrancher Enzyme gene in Glycogen Storage Disease
type IIIa patients.
34th Annual Meeting of the Italian Neuropathological Association, Bosusio Parini, 1-3
June 1998
Clinical Neuropathology, 17, 151, 1998
77. Corti S, Bordoni A, Comi GP, Bresolin N, Toscano A, Agennouz M, Tancredi L,
Moggio M, Scarlato G.
Mutation analysis of carnitine palmytoiltransferase (CPT) II gene in patients with
decreased muscle CPT activity.
34th Annual Meeting of the Italian Neuropathological Association, Bosusio Parini, 1-3
June 1998
Clinical Neuropathology, 17, 151, 1998
78. Corti S, D'Angelo MG, colucci M, Torrente Y, Larovere A, Perini MP, Salani S,
Sironi M, Comi GP, Bresolin N, Scarlato G.
Myoblast transendothelial migration: an in vitro assay.
34th Annual Meeting of the Italian Neuropathological Association, Bosusio Parini, 1-3
June 1998
Clinical Neuropathology, 17, 151, 1998
79. D'Angelo MG, Torrente Y, Corti S, Colucci M, del Bo R, Basso V, Strazzer S,
DeLiso A, Comi GP, Bresolin N, Scarlato G
The myogenic potential of somite-derived cell lines: new perspectives in myoblast
mediated gene therapy of Duchenne Muscular Dystrophy.
.
34th Annual Meeting of the Italian Neuropathological Association, Bosusio Parini, 1-3
June 1998
Clinical Neuropathology, 17, 152, 1998
80. Perini MP, Strazzer S, Bresolin N, Felisari G, Bordoni A, Moggio M, D'Angelo
MG, Comi GP, Scarlato G.
Muscle partial COX deficiency in Usher type 2 phenotype
34th Annual Meeting of the Italian Neuropathological Association, Bosusio Parini, 1-3
June 1998
Clinical Neuropathology, 17, 163, 1998
Pag. 177 di
81. Prelle A, Battistel A, Tancredi L, Sciacco M, Comi GP, Ciscato P, Bordoni A,
Fortunato F, Colucci M, Paganoni S, Fagiolari G, Conti E, Bazzi P, Bresolin N, Scarlato
G, Moggio M..
symptomatic or paucisymptomatic hyperCKemia: retrospective stidy of a large patient
population.
34th Annual Meeting of the Italian Neuropathological Association, Bosusio Parini, 1-3
June 1998
Clinical Neuropathology, 17, 163, 1998
82. Sciacco M, Prelle A, Comi GP, Messina S, Ciscato P, Carpo M, Nobile-Orazio E,
Fortunato F, Mora G, Bignotti V, Fagiolari G, Scarlato G, Moggio M.
Abnormal expression of cyclin-dependent kinases in an atypical case of desminopathy.
34th Annual Meeting of the Italian Neuropathological Association, Bosusio Parini, 1-3
June 1998
Clinical Neuropathology, 17, 168, 1998
83. Silani V, Brioschi A, Bernasconi S, Rango M, Bozzali M, Moggio M, Prelle A,Comi G,
Gellera C, Cappellari A, Commola A, Braga M, Pellegrini G, Checcarelli N, Scarlato G.
A sporadic case of amyotrophic lateral sclerosis-parkinsonism.
34th Annual Meeting of the Italian Neuropathological Association, Bosusio Parini, 1-3
June 1998
Clinical Neuropathology, 17, 151, 1998
84. Rango M, Bozzali M, Castelli A, Prelle A, Comi G, Scarlato G, Bresolin N.
Brain activation in patients with mitochondrial disease without central nervous system
involvement: a Phosphorus Magnetic Resonance Spectroscopy study.
Telethon Scientific Convention, Roma, 15-17 Novembre 1998. p 242, 1998
85. Comi GP, Hadjigeorgiou GM, Bordoni A, Bignotti V, Shen J, Chen Y-T, Toscano A,
Andria G. Biasucci G, Scarlato G.
Molecular basis of glycogen storage disease type III
Telethon Scientific Convention, Roma, 15-17 Novembre 1998. P: 423, 1998.
86. M Aguennouz, A. Toscano, C. Rodolico, A. Ciranni, M. Ruggeri, R. Musolino, P. La
Spina, A. Migliorato, A. Bordoni, G.P. Comi, G. Vita (Messina, Milano)
Muscle lipid storage and young adult stroke: a possible MELAS variant
35th Annual Meeting of the Italian Neuropathological Association, Lipari, May 27-29,
1999
Clinical Neuropathology, 18, 124, 1999
87. L. Napoli, M.P. Perini, A. Bordoni, G.P. Comi, A. Toscano, M. Agennouz, M. Sciacco,
S. Strazzer, A. Prelle, M. Moggio, G. Scarlato (Milano, Messina)
Familial infantile mitochondrial DNA depletion: clinical, histochemical, biochemical
and genetic study
35th Annual Meeting of the Italian Neuropathological Association, Lipari, May 27-29,
1999
Clinical Neuropathology, 18, 146, 1999
88. A. Bordoni, G.P. Comi, M. Zeviani, V. Tiranti, G. Scarlato (Milano)
Pag. 178 di
SURF-1 expression in human tissues
35th Annual Meeting of the Italian Neuropathological Association, Lipari, May 27-29,
1999
Clinical Neuropathology, 18, 127, 1999
89. S. Corti, S. Paganoni, S. Salani, R. Del Bo, Y. Torrente, G.P. Comi, G. Scarlato
Expression of T-antigen in human myoblasts results in inhibition of terminal
differentiation and apoptosis
35th Annual Meeting of the Italian Neuropathological Association, Lipari, May 27-29,
1999
Clinical Neuropathology, 18, 133, 1999
90. V. Tiranti, C. Galimberti, F. Carrara, E. Lamantea, A. Bordoni, E. Bertini, G. Comi, G.
Uziel, T., Meitinger,M. Zeviani (Milano, Monaco)
SURF-1 mutations in cytochrome-c-oxidase deficiency
35th Annual Meeting of the Italian Neuropathological Association, Lipari, May 27-29,
1999
Clinical Neuropathology, 18, 158, 1999
91. C. Galimberti, V. Tiranti, G. Comi, A. Bordoni, P. Corona, M. Zeviani (Milano)
A second chromosomal locus for Leigh syndrome associated with cytochrome c oxidase
deficiency
35th Annual Meeting of the Italian Neuropathological Association, Lipari, May 27-29,
1999
Clinical Neuropathology, 18, 136, 1999
92. M. Sciacco, L. Napoli, A. Prelle, G. Comi, L. Chiveri, G. Fagiolari, A. Bordoni, A.
Toscano, G. Scarlato, M. Moggio (Milano, Messina)
Frequency of specific clinical features and laboratory alterations in 207 patients
affected with mitochondrial DNA disorders
EEN 35th Annual Meeting of the Italian Neuropathological Association, Lipari, May 27-29,
1999
Clinical Neuropathology, 18, 154, 1999
93. C.Galimberti, V. Tiranti., Nijtmans L., Bovolenta S., G. Comi, Zeviani M.
Characterization of SURF-1 gene expression and SURF-1 protein function in normal
and diseased conditions.
XXXI National Congress of the Italian Neurological Society. Verona, October 2-6, 1999
The Italian Journal of Neurological Sciences 20: 106; 1999
94. Perini M.P., Napoli L., Bordoni A., Comi G.P., Toscano A., Agennouz M., Sciacco M.,
Strazzer S., Prelle A., Messina S., Martinuzzi A., Scarlato G. .
IS MITOCHONDRIAL DNA DEPLETION ALWAYS OF NUCLEAR ORIGIN? A
CYBRID STUDY
XXXI National Congress of the Italian Neurological Society. Verona, October 2-6,
1999
The Italian Journal of Neurological Sciences 20: 170; 1999
95. Rodolico C., Toscano A., Aguennouz M., Ruggeri M., Ciranni A., Musolino A., La
Spina R., Migliorato A., Bordoni A., Comi GP, Vita G., Messina C
Young adult stroke and muscle lipid storage: is it a MELAS variant?
Pag. 179 di
XXXI National Congress of the Italian Neurological Society. Verona, October 2-6,
1999
The Italian Journal of Neurological Sciences 20: 162; 1999.
96. Comi G.P., Fortunato F., Tancredi L., Prelle A., Galbiati S., Paganoni S. Scarlato G.
Muscle calpain 3 analysis in Limb Girdle Muscular Dystrophy type 2A
XXXI National Congress of the Italian Neurological Society. Verona, October 2-6,
1999
The Italian Journal of Neurological Sciences 20: 131; 1999.
97. Tiranti V., Galimberti C., Carrozzo R., Santorelli F. Comi G.P., Uziel G., Zeviani M.
Loss of function mutations of SURF-1 in Cytochrome c Oxidase deficiency.
XXXI National Congress of the Italian Neurological Society. Verona, October 2-6,
1999
The Italian Journal of Neurological Sciences 20: 131; 1999.
98
R. Cagliani, G.P. Comi, M. Sironi, F. Fortunato, R. Giorda, L. Tancredi, A. Bardoni,
M. Moggio, N. Bresolin
Primary Beta-Sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria.
36th Meeting of the Italian Association of Neuropathology
Clinical Neuropathology, 19, 147-148, 2000
99. Comi G.P., Bardoni A., Cagliani R., Felisari G., Sironi M., Fortunato F., Prelle A., Tancredi L.,
Bonaglia M.C., Pozzoli U., Bresolin N.
An aberrant splicing event as a cause for Becker muscular dystrophy: expression of two
dystrophins in a 17 year old boy
36th Meeting of the Italian Association of Neuropathology
Clinical Neuropathology, 19, 148, 2000
100. Corti S., Martinuzzi A., Comi G.P., Locatelli F., Salani S., Fortunato F., Angelini C., Bresolin
N., Scarlato G.
Analysis of dystrophin expression in aminoglycoside-treated myotubes of Duchenne muscular
dystrophy patients.
36th Meeting of the Italian Association of Neuropathology
Clinical Neuropathology, 19, 149, 2000
111. Torrente Y., Fagiolari G., Gallanti A., Lamperti C., Salani S., Pisati F., Corti S., Comi G.P.,
Moggio M., Bresolin N., Scarlato G.
Apoptosis in myoblast transplantation
36th Meeting of the Italian Association of Neuropathology
Clinical Neuropathology, 19, 160, 2000
112. Del Bo R., Perini M.P., Strazzer S., Galbiati S., Comi G.P., Bresolin N., Scarlato G.
Mitochondrial DNA point mutations in aged individuals affected by Down's syndrome.
Atti "4° Riunione Scientifica Italian Interdisciplinary Network on Alzheimer Disease",
Palermo, 29 giugno - 1 luglio 2000.
113. Del Bo R., Perini M.P., Strazzer S., Galbiati S., Castelli E., Comi G.P., Bresolin N., Scarlato
G.
Specific ageing-related mitochondrial DNA mutations in Down syndrome fibroblasts.
Atti "2° convegno del Gruppo di Cooperazione in Neuroscienze Molecolari", Milano, 14-15
Pag. 180 di
Settembre 2000.
114. Del Bo R., Comi G.P., Scarlato G.
Down syndrome fibroblasts anticipate the accumulation of specific age-related mutations in
mitochondrial DNA control region.
Atti Convegno “La salute dell’anziano: ricerca e società”, nell’ambito del progetto strategico
“biologia dell’invecchiamento e sue conseguenze sul sistema assistenziale”, Roma, 14
Dicembre 2000.
115. Limongelli A., Carrara F., Comi G., Kaukonen J., Soumalainen A., Zeviani M., Tiranti V.
Identificazione di mutazioni nel gene ANT1 in casi di oftalmoplegia estrinseca progressiva
associata a delezioni multiple del DNA mitocondriale.
Atti "3° Congresso Nazionale Società Italiana di Genetica Umana", Orvieto 29 Novembre- 1
Dicembre 2000, p. 47.
116. Parini R., Restano L., Comi G., Menni F., Piozzi E., Triulzi F.
Delezione eteroplasmica del DNA mitocondriale e ipomelanosi di Ito.
Atti "3° Congresso Nazionale Società Italiana di Genetica Umana", Orvieto 29 Novembre- 1
Dicembre 2000, p. 160.
117. Lucchiari S., Fogh I., Comi G.P.
Nuove mutazioni nel gene AGL nella Glicogenosi di tipo III
Atti "3° Congresso Nazionale Società Italiana di Genetica Umana", Orvieto 29 Novembre- 1
Dicembre 2000, p. 137.
118. G.P. Comi, F. Fortunato, S. Lucchiari, A. Bordoni, A. Prelle, S. Jann, A. Keller, P.
Ciscato, S. Galbiati, L. Chiveri, Y. Torrente, G. Scarlato, N. Bresolin
Beta-Enolase Deficiency, a New Metabolic Myopathy of Distal Glycolysis
47TH Annual meeting of the Italian Association of Neuropathology, Verbania, May 24-26,
2001.
Clinical Neuropathology, 20: 117, 2001
119. Corti S., Strazzer S., Comi G.P., Del Bo R., Salani S., Fortunato F., Bresolin N.,
Scarlato G.
Muscle-specific genes are expressed in a fraction of mouse bone marrow cells.
47TH Annual meeting of the Italian Association of Neuropathology, Verbania, May 24-26,
2001.
Clinical Neuropathology, 20: 118, 2001
120. Fagiolari G., Sciacco M., Chiveri L., Lamperti C., Prelle A., Comi G.P., Bordoni A., Perini
M.P., Scarlato G., Moggio M.
Absence of apoptosis in muscle of PEO patients with mutations in ANT 1 gene.
47TH Annual meeting of the Italian Association of Neuropathology, Verbania, May 24-26,
2001.
Clinical Neuropathology, 20: 120, 2001
121. Del Bo R., Comi G.P., Scarlato G.
Accumulo di specifiche mutazioni somatiche nelle regioni regolatorie del DNA mitocondriale
nel tessuto muscolare scheletrico umano: un'analisi su singola fibra.
Consiglio Nazionale delle Ricerche: Progetto strategico "Biologia dell'Invecchiamento e sue
conseguenze sul sistema assistenziale.
Tuscania, 15-16 giugno 2001. Atti
Pag. 181 di
122. Del Bo R., Comi G.P., Crimi M., Sciacco M., Napoli L., Bresolin N., Scarlato G.
Specifc ageing-related mutations in the human mtDNA control region from normal muscles: a
single-fiber study.
5° Riunione Scientifica Italian Interdisciplinary Network on Alzheimer Disease.
Roma, 28-30 giugno 2001. Atti.
123.D'Adda E., Sciacco M., Comi G.P., Rango M., Prelle A., Lamperti C., Perini M.P.,
Bordoni A., Galbiati S., Scarlato G., Moggio M.
T8993C mitochondrial DNA mutation causing both the NARP and MILS phenotype in
the
same generation: a morphologic, genetic, and spectroscopic study.
XXXII Congress of the Italian Neurological Society, Rimini September 29-October 3, 2001.
Neurological Sciences, 22, S71, 2001.
124. Galbiati S., Perini M.P., Sciacco M., Bordoni A., Lamperti C., Comi G.P., Messina S.,
Moggio M., Bresolin N., Scarlato G.
A late onset multisystem disorder with muscle mitochondrial DNA depletion.
XXXII Congress of the Italian Neurological Society, Rimini September 29-October 3, 2001.
Neurological Sciences, 22, S75, 2001.
125. Tancredi L., Prelle A., Chiveri L., Comi G.P., Sciacco M., Ciscato P., Serafini M., Fagiolari
M., Fortunato F., Scarlato G., Moggio M.
Dysferlin study in a large population of Italian myopathic patients.
XXXII Congress of the Italian Neurological Society, Rimini September 29-October 3, 2001.
Neurological Sciences, 22, S120, 2001.
126.Chiveri L., Fagiolari G., Sciacco M., Lamperti C., Prelle A., Comi G.P., Bordoni A., Perini M.
P., Scarlato G., Moggio M.
Lack of apoptosis in skeletal muscle tissue of patients with Progressive External
Ophthalmoplegia and mutations in the Adenine Nucleotide Translocator-1 gene.
XXXII Congress of the Italian Neurological Society, Rimini September 29-October 3, 2001.
Neurological Sciences, 22, S121, 2001.
127. Chiveri L., Tancredi L., Comi G.P., Sciacco M., Ciscato P., Serafini M., Fagiolari G., Porta
M., Cavaletti G., Fortunato F., Scarlato G., Moggio M., Prelle A. Immunological dysferlin
screening in a large population of myopathic patients.
First National Meeting of the Italian Association of Myology, Camogli, GE October 19-20,
2001.
Basic and Applied Myology 11(1): 55, 2001.
128. Fagiolari G., Sciacco M., Lamperti C., Prele A., Chiveri L., Comi G.p:, Bordoni A., Perini
M. P., Scarlato G., Moggio M.
Absence of apoptosis in skeletal muscle tissue of PEO patients with mutations in the Adenine
Nucleotide Translocator-1 gene.
First National Meeting of the Italian Association of Myology, Camogli, GE October 19-20,
2001.
Basic and Applied Myology 11(1): 57, 2001.
129.Perini M.P., Sciacco M., Galbiati S., Bordoni A., Lamperti C., Comi G.P., Moggio M., Scarpini
S., Bresolin N., Scarlato G.
Late onset multisystem disorder with muscle mitochondrial DNA depletion: a case report.
First National Meeting of the Italian Association of Myology, Camogli, GE October 19-20,
Pag. 182 di
2001.
Basic and Applied Myology 11(1): 62, 2001.
130.Sciacco M., D'Adda E., Comi G.P., Rango M., Prelle A., Lamperti C., Perini M.P., bordoni A.,
Galbiati S., Scarlato G., Moggio M.
Familial T8993C mutation causing both the NARP and MILS phenotype in the same
generation: a morphologic, genetic, and spectroscopic study.
First National Meeting of the Italian Association of Myology, Camogli, GE October 19-20,
2001.
Basic and Applied Myology 11(1): 65, 2001.
131. Crimi M., Del Bo R., Bordoni A, Comi G.
Patogenesi molecolare delle miopatie mitocondriali.
1° Sigma Aldrich Young Chemists Symposium. Riccione, 18-19 Ottobre 2001. P032. 2001
132. Del Bo R., Galbiati S., Crimi M., Comi G.P., Bresolin N., Scarlato G.
Accumulation of somatic point mutations in the human mtDNA control region in the ageing
process and in ageing-associated neurodegenerative diseases.
Convegno " Biological markers in Alzheimer disease" giornata monotematica Italian
Interdisciplinary Network on Alzheimer Disease.
Monza, 3 novembre 2001. Atti.
133. Comi GP, Lucchiari S. Fogh I.
Molecular basis of glycogen storage disease type III
Telethon Scientific Convention, Riva del Garda, 18-20 Novembre 2001. P: 416, 2001.
134. Comi G.P.
Analisi Molecolare nelle distrofie muscolari: algoritmo diagnostico.
3° Corso di Perfezionamento in diagnostica multidisciplinare delle malattie neuromuscolari.
Messina, 26 Novembre-1 Dicembre 2001, Messina. Atti.
135 Comi G.P., Corti S., Strazzer S., Del Bo R., Salani S., Bossolasco P., Locatelli F., Soligo D.,
Scarlato G., Bresolin N.
Can Hematopoietic stem cells cure neuromuscular diseases?
Atti convegno “Hematopoietic stem cell theraphy: the basic questions”, Milano, 1 febbraio
2002.
136 Del Bo R., Comi G.P., Bresolin N., Scarlato G.
Accumulo di specifiche mutazioni somatiche nelle regioni regolatorie del DNA mitocondriale
nel tessuto muscolare scheletrico umano.
Atti Convegno: “La salute dell’anziano: tema d’attualità nella formazione delle professioni
sanitarie”, nell’ambito del progetto strategico titolato “Determinanti di salute e invecchiamento
della popolazione”, Roma, 15 marzo 2002.
137 Del Bo R., Comi G.P., Giorda R., Crimi M., Locatelli F., Martinelli-Boneschi F., Pozzoli U.,
Castelli E., Bresolin N., Scarlato G.
The 129 codon polymorphism of the prion protein gene influences cognitive performance in
Down Syndrome subjects.
Atti "6° Riunione Scientifica Convegno Annuale Italian Interdisciplinary Network on
Alzheimer Disease", Sorrento, 18-20 giugno 2002.
Pag. 183 di
138 Fenoglio C., Galimberti D., Del Bo R., Corrà B., Guidi I., Tiriticco M., Cogiamanian F.,
Scarpini E., Comi G.P., Baron P.L., Bresolin N., Scarlato G.
Monocyte Chemotactic Protein-1 gene (MCP-1) polymorphism in Alzheimer’s Disease.
Atti "6° Riunione Scientifica Convegno Annuale Italian Interdisciplinary Network on
Alzheimer Disease", Sorrento, 18-20 giugno 2002.
139 Gatti A., Fenoglio C., Galimberti D., Del Bo R., Corrà B., Guidi I., Tiriticco M., Cogiamanian
F., Comi G.P., Baron P.L., Bresolin N., Scarpini E.
Monocyte chemotactic protein-1 (MCP-1) gene A-2518 polymorphism in Alzheimer’s disease.
Atti “XIII Congresso Associazione Italiana Neuroimmunologia (AINI)”, Moltrasio (CO), 1719 ottobre 2002.
140 Biunno I., Crimi M., Malferrari G., Comi GP and Rossi Bernardi L.
HTS-Technological Platform- presentation.
Riunione CISI. 10 April, Segrate, Milan, Italy.
141 Crimi M., Galbiati S., Bordoni A., Strazzer S., Sciacco M., Perini M.P., Pintucci C., Zecca C.,
Biunno I., Moggio M., Bresolin N., Scarlato G. and Comi G.P.
The first maternally-inherited mutation of mitochondral t-RNAHis gene results in retinitis
pigmentosa and neuro-sensorial hypoacusia.
Associazione Italiana di Miologia, Torino 14-15 Giugno 2002.
Basic and Applied Myology (BAM) Vol. 12: p.125, 2002.
142 Sciacco M., Crimi M., Galbiati S., Bordoni A., Lombardi F., Fagiolari G., Malferrari G.,
Moroni I., Lamantea E., Zeviani M., Moggio M., Bresolin N., Scarlato G. and Comi G.P.
A heteroplasmic A13084T mutation in ND5 mtDNA gene causes early-onset progressive
mental retardation and gait ataxia.
Associazione Italiana di Miologia, Torino 14-15 Giugno 2002.
Basic and Applied Myology (BAM) Vol. 12: p.117, 2002.
143 Cagliani R., Sironi M., Rodolico C. Toscano A., Lucchiari S., Fortunato F., Prelle A.., Tancredi
L., Salani S., Sciacco M., Zecca C., Gallanti A., Moggio M., Bresolin N., Comi G.P.
A novel splice-site mutation in a LGMD-2B family causing activation of a cryptic site and total
dysferlin absence.
Associazione Italiana di Miologia, Torino 14-15 Giugno 2002.
Basic and Applied Myology (BAM) Vol. 12: p.111, 2002.
144.R. Cagliani, A. Gallanti, M. Sironi, Ciscato, V. Cardin, S. Bonato, S. Galbiati, L. Chiveri, S.
Corti, A. Prelle, M. Moggio, N. Bresolin, GP Comi.
A novel autosomal dominant CAV3 gene mutation results in both RMD and LGMD in the
same family.
Associazione Italiana di Miologia, Torino 14-15 Giugno 2002.
Basic and Applied Myology (BAM) Vol. 12: p.112, 2002.
145. Chiveri L., Gallanti A., Fratto P., Fortunato F., Bordoni A., Lombardi F., Comi GP, Prelle A.,
Vitali E., Moggio M.
concomitant involvement of cardiac and skeletal muscle tissues in HIV seropositive converted
Pag. 184 di
patient.
Associazione Italiana di Miologia, Torino 14-15 Giugno 2002.
Basic and Applied Myology (BAM) Vol. 12: p.112, 2002.
146. Lucchiari S., Fogh I., Prelle A., Parini R., Bresolin N., Melis D., Gatti R., Donati MA,
Scarlato G., Comi GP.
Glycogen Storage Disease type III: genotype and phenotype study on a cohort of mediterranean
patients.
Associazione Italiana di Miologia, Torino 14-15 Giugno 2002.
Basic and Applied Myology (BAM) Vol. 12: p.112, 2002.
147. M. Sironi, R. Cagliani, A. Bardoni, G.P. Comi, U. Pozzoli, N. Bresolin.
The dystrophin rod-domain is alternatively spliced in both normal human tissues and in
DMD/BMD skeletal muscle
Associazione Italiana di Miologia, Torino 14-15 Giugno 2002.
Basic and Applied Myology (BAM) Vol. 12: p.117, 2002.
148 Cagliani R., Sironi M., Bardoni A, Fortunato F., Grimoldi N., Bresalin N., Comi G (2003). A
complex rearrangement in the DMD gene determines new exan inclusion and BMD phenotype.
Congenital muscular dystrophy presenting as infiammatory myopathy.. BASIC AND
APPLIED MYOLOGY, ISSN: 1120-9992
149 Sciacca M., Prelle A, D'Adda E.. Ciscata P., Fagiolari G., Jann S., Comi G, Crimi M., Di
Fanzo A., Bordoni A, Bresolin N., Moggio M. (2003). Homoplasmic T3394C mtDNA mutation and
genetically documented CPT deficiency and in a patient with ragged red fibers at the musde biopsy
and myoglobinuria. Congenital muscular dystrophy presenting as infiammatory myopathy. . BASIC
AND APPLIED MYOLOGY, ISSN: 1120-9992
150 Cagliani R., Sironi M., Prelle A., Moggio M., Toscano A, Lacatelli F., Radolico C., Tiberia F.,
Zecca c., Fortunato F., Grimaldi N., Bresolin N., Comi G (2003). Molecular analysis of LGMD-2B
and MM patients: identification of novel DYSF mutations and possibile faunder effect in the Italian
population. . BASIC AND APPLIED MYOLOGY, ISSN: 1120-9992
151 Del Bo R., Guglieri M., D’Angelo M.G., Ghezzi S., Magri F., Napoli L., Prelle A., Moggio
M., Mora M., Bresolin N., Comi G (2006). A novel GNE mutation causes familial recessive
myopathy without inclusion bodies. . BASIC AND APPLIED MYOLOGY, ISSN: 1120-9992
152 Guglieri M., Magri F., Cagliani R., D’Angelo M.G., Prelle A., Fortunato F., Lucchiari S.,
Salani S., Del Bo R., Ghezzi S., Zecca C., Lamperti C., Morandi L., Mora M., Moggio M., Bresolin
N., Comi G (2006). Limb-girdle muscular dystrophies: clinical features and genetic frequency in a
large Italian population. . BASIC AND APPLIED MYOLOGY, ISSN: 1120-9992
153 S. Pagliarani, S. Lucchiari, S. Corti, M.G. D’Angelo, F. Magri, M. Raimondi, M. Carpo, N.
Bresolin, G.P. Comi (2008). Caratterizzazione molecolare dei geni CLCN1, SCN4A, KCNJ2,
CACNA1S in pazienti con canalopatie muscolari. BASIC AND APPLIED MYOLOGY, ISSN:
1120-9992
154 C.Bruno, E. Pegoraro, A. Berardinelli, G.P. Comi, R. Biancheri, A. D’Amico, L. Farina, A.
Pini, T. Mongini, L. Morandi, I. Moroni, C. Uggetti, M. Pane, A. Pichiecchio, A. Ruggieri, C.
Scuderi, A. Toscano, C.P. Trevisan, E. Bertini, E. Mercuri (2008). Correlazioni genotipo-fenotipo
nelle distrofie muscolari congenite con riduzione dell’alfa-distroglicano: uno studio italiano
multicentrico. BASIC AND APPLIED MYOLOGY, ISSN: 1120-9992
Pag. 185 di
155 G. Ricci, L. Volpi, M. Tosetti, S. Linsalata, R. Battini, V. Crugnola, M. Moggio, G.P. Comi, G.
Cioni, G. Siciliano (2008). Descrizione di un caso clinico con inusuale affaticabilità muscolare e
miopatia metabolica. BASIC AND APPLIED MYOLOGY, ISSN: 1120-9992
156 M. Nardini, M. Nizzardo, C. Donadoni, F. Fortunato, N. Bresolin, GP. Comi, S. Corti (2008).
La somministrazione di ceftriaxone migliora il fenotipo di un modello murino di Atrofia Muscolare
Spinale. BASIC AND APPLIED MYOLOGY, ISSN: 1120-9992
157 F. Magri, R. Virgilio, R. Del Bo, S. Ghezzi, S. Tedeschi, M.G. D’Angelo, D. Coviello, A.
Prelle, A. Bordoni, M. Sciacco, C. Lamperti, S. Corti, Y. Torrente, M. Moggio, N. Bresolin, G.P.
Comi (2008). Stop codons, duplicazioni e delezioni: caratterizzazione genetica e follow-up clinico
in una coorte di 201 pazienti affetti da distrofia Muscolare di Duchenne. BASIC AND APPLIED
MYOLOGY, ISSN: 1120-9992
158 F. Magri, R. Virgilio, R. Del Bo, S. Ghezzi, S. Tedeschi, M.G. D’Angelo, D. Coviello, A.
Prelle, A. Bordoni, M. Sciacco, C. Lamperti, S. Corti, Y. Torrente, M. Moggio, N. Bresolin, Comi
G (2008). Stop codons, duplicazioni e delezioni: caratterizzazione genetica e follow-up clinico in
una coorte di 201 pazienti affetti da distrofia Muscolare di Duchenne.. BASIC AND APPLIED
MYOLOGY, ISSN: 1120-9992
159
M. Nizzardo, S. Corti, M. Nardini, C. Donadoni, F. Fortunato, N. Bresolin, G.P.
Comi (2008). Trapianto di cellule staminali neuronali derivate da staminali embrionali (ES)
come possibile strategia terapeutica per l’Atrofia Muscolare Spinale. BASIC AND
APPLIED MYOLOGY, ISSN: 1120-9992
160
Ghezzi S., Corti S., Santoro D., Briani C., Mancuso M., Siciliano G., Bresolin N.,
Comi G. P., Del Bo R. Progranulin genetic variability is not associated to sporadic
Amyotrophic Lateral Sclerosis in Italian petients. Atti, 5th Meeting on molecular
mechanisms in Neuroscience. Milano, 19-20 giugno 2008
161
Lucchiari S, Pagliarani S, Corti S, D’Angelo MG, Magri F, Raimondi M, Carpo M,
Bresolin N, Comi GP. Molecular characterization of CLCN1, SCN4A, KCNJ2, CACNA1S
genes in patients with muscle channelopathies. 5th Meeting of Molecular Mechanisms in
Neuroscience, Milan, 19-20 Giugno 2008
162
Nizzardo M., Corti S, Nardini M., Donadoni C., Fortunato F., Saladino F, Bresolin
N., Comi GP.“Transplantation of Neural Stem Cells derived from Murine Embryonic (mES)
Ameliorates Spinal Muscular Atrophy Phenotype”. 5th Molecular Mechanisms in
Neuroscience, University of Milan, Italy, 19-20 June 2008
163
Nardini M., Nizzardo M., Donadoni C., Fortunato F., Bresolin N., Comi G.P., Corti
S. “Ceftriaxone treatment improves phenotype in a murine model of spinal muscular”. 5th
Molecular Mechanisms in Neuroscience, University of Milan, Italy, 19-20 June 2008
164
Ghezzi S., Del Bo R., Scarlato M., Fenoglio C., Nardini M., Santoro D., Prelle A.,
Galimberti D., Scarpini E., Forloni G., Bresolin N., Corti S., Comi G.P. Ruolo del VEGF
nella neurodegenerazione e nell’invecchiamento. Atti, II Convegno dei Biotecnologi.
Torino, 29 febbraio–1 marzo 2008
165
Nizzardo M., Corti S., Nardini M., Donadoni C., Salani S., Locatelli F.,
Pag. 186 di
Papadimitriou D., Comi GP. “Cellule staminali neuronali derivate da staminali embrionali
murine migliorano il fenotipo di un modello murino di Atrofia Spinale Muscolare (SMA)”.
2° Congresso dei Biotecnologi-Sezione Piemonte, Torino 2008. 28 Febbraio-1 Marzo 2008
166
Simone C., Corti S., Nizzardo M., Salani S., Nardini M., Donadoni C., Ronchi D.,
Falcone M., Bresolin N., Comi G.P. “Neural stem cells derived from genetically engineered,
lineage-selectable Es cells improves the phenotype of a mouse model of spinal muscular
atrophy”. IV Meeting on the Molecular Mechanism of Neurodegeneration, Milano, 8-10
May 2009
167
Ronchi D., Nizzardo M., Nardini M., Salani S., Simone C., Falcone M., Donadoni
C., Bresolin N., Comi G.P. and Corti. S. “Ceftriaxone treatment improves phenotype in a
murine model af spinal muscular atrophy”. IV Meeting on the Molecular Mechanism of
Neurodegeneration, Milano, 8-10 May 2009
168
Del Bo R., Ghezzi S., Corti S., Santoro D., Briani C., Mancuso M., Siciliano G.,
Fenoglio C., Galimberti D., Scarpini E., Bresolin N., Comi G.P. Progranulin genotyping in
237 sporadic amyotrophic lateral sclerosis patients. "12° Riunione Scientifica Convegno
Annuale Italian Interdisciplinary Network on Alzheimer Disease"; Milano 9 gennaio 2009.
Atti pag. 20
169
Nizzardo M., Corti S., Nardini M., Donadoni C., Salani S., Ronchi D., Del Bo R.,
Papadimitriou D., Locatelli F., Bresolin N., Comi G.P. Motoneuron transplantation rescue
the phenotype of spinal muscular atrophy with respiratory distress type 1 (SMARD1). IV
Meeting on the molecular mechanisms of neurodegeneration, Milano, 8-10 maggio 2009.
Atti (abstract P114)
170
Ronchi D, Ghezzi S, Nizzardo M, Nardini M, Donadoni C, Fortunato F, Salani S,
Colciago G, Bordoni A, Bresolin N, Comi GP, Corti S. Miglioramento del fenotipo in un
modello murino di SMA in seguito a trattamento con ceftriaxone. [COMUNICAZIONE
ORALE] Convegno Nazionale dell’Associazione Nazionale Biotecnologi Italiani, Siena 0607 marzo 2009. Atti.
171
Corti S., Nizzardo M., Nardini M., Donadoni C., Salani S., Simone C., Falcone M.,
Mezzina N., Gianni F., Riboldi G., Bresolin N., and Comi G.P.. “Systemic transplantation of
c-kit+ cells exerts a therapeutic effect in a model of Amyotrophic Lateral Sclerosis”. 2010
AIM Conference, Milan, Italy, 3-5 June 2010. Acta Myologica
172
Nizzardo M., Simone C., Falcone M., Donadoni C., Nardini M., Salani S., Magri F.,
Riboldi G., Del Bo R., Corti S., Comi GP. Development of a therapeutic approach for Spinal
Muscular Atrophy with Respiratory Distress (SMARD1) using human induced pluripotent
stem cell-derived neural stem cells and motor neurons. XVI convegno Telethon, Riva del
Garda, Italy, March 7-9 2011.
173
Simone C., Falcone M., Ronchi D., Riboldi G., Menozzi G., Bonaglia C., Nizzardo
M., Riboldi G., Bresolin N., Corti S. Neuroprotection in Spinal Muscular Atrophy (SMA)
using neural stem cell as teherapeutic approach. XVI convegno Telethon, Riva del Garda,
Italy, March 7-9 2011.
174
Falcone M, Rizzo F, Nizzardo M, Simone C, Ronchi D, Donadoni C, Salani S, Ulzi
G, Riboldi G, Bresolin N and Corti S. “Neuroprotection in Spinal Muscular Atrophy (SMA)
using neural stem cell as teherapeutic approach”. V Meeting on the Molecular Mechanism
of Neurodegeneration, Milan, May 13-15, 2011
Pag. 187 di
175
Corti S., Nizzardo M., Simone C., Falcone M., Salani S., Donadoni C., Nardini M.,
Riboldi G., Menozzi G., Bonaglia C., Rizzo F., Bresolin N., Comi G.P., Motoneurons from
Spinal Muscular Atrophy-Induced Pluripotent Stem Cells for disease modeling and cell
therapy 11 Congresso Nazionale Associazione Italiana di Miologia 26-28 Maggio 2011,
Acta Myologica
176
Ripolone M, Fagiolari G, Vallejo D, Ronchi D, Lucchini V, Violano R, Bordoni A,
Lamperti C, Villa L, Corti S, Balottin U, Bresolin N, Comi G, Sciacco M, Berardinelli A,
Moggio M. Oxidative defects at muscle histochemistry in 15 genetically-determined SMA
cases. 12° Congresso Nazionale Associazione Italiana di Miologia 17-19 Maggio 2012, Acta
Myoologica
177
Corti S. Nizzardo M., Simone C., Falcone M., Nardini M., Ronchi D., Donadoni C.,
Salani S., Riboldi G., Menozzi G., Bonaglia C., Rizzo F., Magri F., Bresolin N., Comi GP.
Targeted gene correction of Spinal Muscular Atrophy induced pluripotent stem cells and
motoneurons as cell source for therapy. 12° Congresso Nazionale Associazione Italiana di
Miologia 17-19 Maggio 2012, Acta Myologica
178
Corti S., Nizzardo M., Simone C., Rizzo F., Salani S., Ruggieri M., Bresolin N.,
Comi G. Transplantation of neural stem cells derived from induced pluripotent stem cells
improves Amyotrophic Lateral Sclerosis phenotype in mice. XLIII Congresso della Società
Italiana di Neurologia, Rimini 2012; Neurological Sciences
179
Nizzardo M., Simone C., Falcone M., Rizzo F., Salani S., Faravelli I., Zanetta C.,
Ruggieri M., Bresolin N., Comi G., Corti S. Treatment with unmodified and octa-guanidineconjugate morpholino oligomers rescues spinal muscular atrophy in mice. XLIII Congresso
della Società Italiana di Neurologia, Rimini 2012; Neurological Sciences
180
Gellera C, Tiloca C, Del Bo R, Corrado L, Pensato V, Agostini, Cereda C, Ratti A,
Castellotti B, Corti S, Bagarotti A, Cagnin A., Milani P., Gabelli C, Riboldi G, Mazzini L,
Soraru G, D’Alfonso S, Taroni F, Comi GP, Ticozzi N, Silani V. Ubiqullin 2 mutations in
italian patients with amyotrophic lateral sclerosis and frontotemporal dementia, Congresso
della Società Italiana di Neurologia, Rimini 2012; Neurological Sciences
181
Corti S, Nizzardo M, Simone C, Rizzo F, Ruggieri M, Salani S, Brajokovic S,
Bresolin N, Comi GP. Transplantation of iPS derived neural stem cells in a mouse model of
Amyotrophic Lateral Sclerosis, Convegno ARISLA 2012
182
Simone C., Nizzardo M., Ronchi D., Salani S., Riboldi G., Magri F., Faravelli I.,
Zanetta C., Menozzi G., Bonaglia C., Bresolin N., Comi G., Corti S. Neuroprotection in
Spinal Muscular Atrophy (SMA) using neural stem cells as therapeutic approach.
Convention Telethon 2013
183
184
Nizzardo M., Simone C., Rizzo F., Ruggieri M., Salani S., BrajkovicS., Bresolin N.,
Corti S. Comi GP. Development of a therapeutic approach for Spinal Muscular Atrophy
with Respiratory Distress (SMARD1) using human induced pluripotent stem cell-derived
neural stem cells and motor neurons, Convention Telethon 2013
Rizzo F, Ruggieri M, Nizzardo M, Simone C, Salani S, Faravelli I, Zanetta C,
Brajkovic S, Riboldi G, Bresolin N, Comi GP, Corti S. Amelioration of Amyotrophic
Lateral Sclerosis phenotype in mouse model by iPS derived neural stem cells trasplantation
13° Congresso Nazionale AIM 2013. XIII Congress of the Italian Association of Myology
Pag. 188 di
(AIM), May 16-18 2013 Acta myologica, vol. XXXII, May 2013
185
Corti S, Nizzardo M, Simone C, Salani S, Ruepp M, Rizzo F, Ruggieri M, Brajkovic
S, Faravelli I, Zanetta C, Bresolin N, Comi GP. Spinal muscular atrophy phenotype rescue
by combined systemic and local morpholino treatment 13° Congresso Nazionale AIM 2013.
XIII Congress of the Italian Association of Myology (AIM), May 16-18 2013 Acta
myologica, vol. XXXII, May 2013
186
Del Bo R., Magri F., Fortunato F., D’Angelo MG, Pane M., Bianco F., Govoni A.,
Corti S., Mercuri E., Bresolin N., Moggio M., Comi GP. LAMA2 gene mutations are cause
of congenital and limb-girdle muscular dystrophies. XIII Congress of the Italian Association
of Myology (AIM), May 16-18 2013 Acta myologica, vol. XXXII, May 2013, p 43
187
Pagliarani S., Sansone V., Scarlato M., Mosoni A., Magri F., Previtali S., Corti S.,
Meola G., Lo Monaco M., Comi GP. Genetic distribution and unusual phenotypes in a
periodic paralysis color. XIII Congress of the Italian Association of Myology (AIM), May
16-18 2013 Acta myologica, vol. XXXII, May 2013, p 52
188
Piga D., Ronchi D., Magri F., Corti S., Ghezzi S., Mercuri E., Bertini E., Toscano A.,
Moroni I., Moggio M., D’Angelo MG., Bruno C., Mora M., Bresolin N., Comi GP. Next
generation sequencing in the analysis o fan italuan color of patients afefcted by nemaline
myopathy. XIII Congress of the Italian Association of Myology (AIM), May 16-18 2013
Acta myologica, vol. XXXII, May 2013, p 54
189
Ronchi D, Garone C, Bordoni A, Rios PG, Calvo SE, Ripolone M, Ranieri M,
Rizzuti M, Xhani R, Servida M, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, Di
Mauro S, Comi GP, Sciacco M. Next-generation sequeencing discloses DGUOK mutations
in adult patients with mtDNA multiple deletions. [COMUNICAZIONE ORALE] XIII
Congress of the Italian Association of Myology (AIM), May 16-18 2013 Acta myologica,
vol. XXXII, May 2013, p57.
190
Ronchi D, Di Fonzo A, Bordoni A, Pagliarani S, Rizzuti M, Melzi V, Tiri G, Filosto
M, Ferrò MT, Peverelli L, Vetrano IG, Spagnoli D, Corti S, Sciacco M, Moggio M, Bresolin
N, Shen B, Comi GP. Mutations in DNA2 link progressive myopathy to mitochondrial DNA
instability. XIII Congress of the Italian Association of Myology (AIM), May 16-18 2013 Acta
myologica, vol. XXXII, May 2013, p57.
191
Simone C, Nizzardo M, Rizzo F, Ruggieri M, Salani S, Riboldi G, Faravelli I,
Zanetta C, Bresolin N, Corti S, Comi GP. Minimally invasive transplantation of iPSCderived ALDHhiSSClo neural stem cells effectively improves the phenotype of an
amyotrophic lateral sclerosis model. Congresso ARISLA 2013.
192
Rizzo F., Simone C., Ruggieri M., Salani S., Zanetta C., Faravelli I., Ruepp M.,
Moulton H., Bresolin N., Comi G., Corti S., Nizzardo M. Development of an
oligonucleotides strategy towards a treatment for ALS. Congresso ARISLA 2013.
193
Nizzardo M, Simone C., Rizzo F., Ruggieri M., Salani S., Zanetta C., Faravelli I.,
Ruepp M., Moulton H., Bresolin N., Comi G., Corti S. Improved oligonucleotides strategy
towards a treatment for genetic motor neuron diseases. XLIV Congresso della Società
Italiana di Neurologia, Neurological Sciences, 2-5 Novembre, 2013.
194
Corti S., Nizzardo M., Simone C., Rizzo F., Ruggieri M., Salani S., Faravelli I.,
Zanetta C., Bresolin N., Comi G. Development of a therapeutic approach for Spinal
Pag. 189 di
Muscular Atrophy with Respiratory Distress (SMARD1) using human induced pluripotent
stem cell-derived neural stem cells and motor neurons, XLIV Congresso della Società
Italiana di Neurologia, Neurological Sciences, 2-5 Novembre, 2013.
195
Lanfranconi S, Basilico P, Ronchi D, Ahmed N, Corti S, Comi GP, Bresolin N. A
novel mutation in CCM/KRIT1 gene associated with familial cerebral cavernous
malformations. XLIV Congresso della Società Italiana di Neurologia, Neurological
Sciences, 2-5 Novembre, 2013.
196
Bersano A., Lanfranconi S., Micieli G., Delofovici M., Calloni M., Perrone P.,
Mazzucchelli F, Beretta S., Pezzini A., Padovani A., Sessa C., Motto C., Checcarelli N.,
Boncoraglio G., Gellera C., Taroni F., Penco S., Carrera P., Obici L., Corti S., Comi G.,
Grasso M., Arbustini E., Bassi M., Comi G., Fusi L., Tancredi L., Lattuada O., Addobbati
L., Ferrarese C., Parati L., Candelise L. Phenotype identification as clinical pregenetic
screening for stroke monogenetic diseases: results from Lombardia Gens Registry. XLIV
Congresso della Società Italiana di Neurologia, Neurological Sciences, 2-5 Novembre,
2013.
197
Monica Nizzardo; Chiara Simone; Sara Dametti, Agnese Ramirez, Andrea DalMas;
Emanuele Frattini; Giulietta Riboldi; Francesca Magri; Nereo Bresolin; Franco Pagani; Giacomo
Comi; Stefania Corti, University of Milan, RNA therapy for Spinal Muscular Atrophy by SMN
increase or modulation of secondary cell death events, AIM Sirmione 2014
Pag. 190 di
Capitoli in libri
1.
"A new muscle enzyme defect: Glucose 6 Phosphate Dehydrogenase Deficiency".
Bresolin N., Meola G., Bet L., Martucci G., Fortunato F., Comi G., Adobbati L.,
Scarlato G.
II Meeting of the International Society for Myochemistry.
Rome. October 7-10, 1987. Published on "Advances in Myochemistry" by Benzi G.,
ed. John Libbey, London-Paris, 397-398, 1987.
2.
"A mitochondrial myopathy with Complex I deficiency: a biochemical and
morphological approach".
Bet L., Bresolin N., Moggio M., Comi G., Scarlato G.
II Meeting of the International Society for Myochemistry,
Rome, October 7-10, 1987. Published on "Advances in Myochemistry" by
Benzi G., ed. John Libbey, London-Paris, 400-401, 1987.
3.
"Immunological and biochemical studies and pilot terapeutical trial with
Ubidecarenone in Kearns-Sayre patients".
Bresolin N., Bet L., Ferrante C., Binda A., Carenzi A., Moggio M., Comi G.,
Scarlato G.
in "Advances in Neurology. Molecular genetics of Neurological
and Neuromuscular Diseases". Vol. 48, 239-256.
Di Donato S., ed. Raven Press, New York, NY, USA, 1988.
4.
"Familiar cases of mitochondrial myopathies: mitochondrial DNA deletions and
genetic analysis"
Bresolin N., Moroni I., Ciafaloni E., Moggio M., Meola G., Gatti A., Comi G.,
Scarlato G.
in : "Molecular basis of neurological disorders and their treatment" Gorrod E. ed.
Chapman & Hall, London, 228-242, 1991.
5.
Bresolin N., Comi G.P., Mazzucchelli F., Bardoni A., Scarlato G.
Mitochondrial encephalomyopathies: from the genes to the clinical phenotypes.
In:"Molecular bases of Human diseases"
Polli E.E., ed . Elsevier Science Publishers. Amsterdam, 1993.
6.
Bresolin Nereo, Fabiola E.Gonano, Giacomo Comi
Cytochrome c oxidase deficiencies. In: Mitochondria: DNA, Proteins and Disease
V. Darley-Usmar and A.H.V. Schapira, eds. 221-239. 1994.
7.
N.Bresolin, G.P.Comi, F. Mazzucchelli, C. Ausenda, M. Robotti, N. Checcarelli,
G.Scarlato
Atypical presentations associated with multiple deletions and point mutation at
nucleotide 3243 of mitochondrial DNA. Neurocardiology '93. Eds, G.Nappi et al.
Smith-Gordon Publisher. Great Britain 1994 pg 185-188.
8.
Comi G., Bardoni A., Robotti M.
Indagini biomolecolari nelle Distrofie Muscolari di Duchenne e Becker.
Pag. 191 di
Neurologia 94. XII corso di aggiornamento della Societa' Italiana di Neurologia. Bari,
25-29 Ottobre 1994. CIC Edizioni internazionali.
8.
Moroni I, Gonano E, Comi GP, Prelle A, Bresolin N.
Clinical Polymorphism in malignant hyperthermia susceptibility .
Minerva Anestesiologica , vol.60. Supp. 3 n.9 Sett.94 pg.195-200
9.
G:P: Comi, A.Bardoni, M. Robotti, C. Ausenda, N. Bresolin
Le distrofinopatie.Simposi in Medicina Clinica. Rivista Medica degli Ospedali di Milano
IRCCS Ospedale Maggiore, Niguarda Cà Granda, San Carlo Borromeo e di Sesto
S.Giovanni. The role of Molecular genetics in neurological diagnosis. Masson 89, (2):
157-165, 1995.
10.
Comi G., Bardoni A, Robotti M. Indagini biomolecolari nelle distrofie muscolari di
Duchenne e Becker.
In: Neurologia '95. XII Corso di aggiornamento della Societa' Italiana di Neurologia
Fieschi C, Federico A, Federico F, Toso V, Trojano ME (eds).CIC Edizioni Internazionali,
1995, pp166-167.
11.
Prelle A., Moggio M., Comi G., Rigoletto C, Messina M, Bazzi P, Scarlato G.
Le distrofia muscolari congenite.
In: Neurologia 1996. XIII Corso di aggiornamento della Societa' Italiana di Neurologia
Carreras M, Federico A, Fieschi C, Paolino E (eds). Editrice Pisani, 1996, pp17-21.
12. Ausenda CD, Bresolin N, Robotti M, Comi GP, Perini MP, Baldessari S, Colucci M,
Scarlato G.
Il trapianto di mioblasti come approccio delle malattie genetiche del muscolo scheletrico.
Libro Giubilare Professor Giancarlo Guazzi. P.Annunziata, A Rossi (eds) Universita' di
Siena. pp:127-147, 1997.
13.
Bernasconi S., Silani V., Brioschi A., Rango M., Bozzali M., Moggio M., Prelle A. Comi
G., Gellera C., Cappellari A., Checcarelli N., Pellegrini G., Scarlato G.
Malattia del motoneurone e parkinsonismo: terapia antiglutammatergica.
Atti XXV Riunione LIMPE "Eccitazione ed inibizione del sistema extrapiramidale"
Copanello (CZ) 1-2 Ottobre 1998. pp 307-312.
14.
Bresolin N., Lucchiari S. Comi G.P.
Miopatie metaboliche nelle malattie da accumulo di glicogeno.
In: XV Corso di Aggiornamento della Società Italiana di Neurologia. Neurological Sciences,
Springer Verlag, 2000, Vol. 21, Suppl. pag.647-650.
15.
Comi G.P. , Strazzer S. Galbiati S. Bresolin N.,
Cytochrome c oxidase deficiency.
AHV Schapira ed. Mitochondrial Function and Dysfunction.
Academic Press , San Diego, California, USA. Vol. 53, pp: 205-240.. 2002
16. Toscano A. Comi G.P.
Laboratorio di Biochimica muscolare, in: Requisiti strutturale, strumentali ed organizzativi per
l’accreditamento dei laboratori di neuropatologia. pp: 29-32 Associazione Italina di
Neuropatologia. Centro Stampa Universitario, Messina. Maggio 2002.
Pag. 192 di
17 Del Bo R., Ghezzi S., Bordoni A., Crimi M., Sciacco M., Bresolin N., Comi G.P.
Mutations in the mitochondrial DNA control region in mitochondrial disorders associated with
defects in mtDNA maintenance and aging. “Frontiers in DNA Research”, Editor Corey R.
Woods; NovaScience –Hardback; ISBN: 1-59454-925-7. 2006.
Pag. 193 di