Segui
Olimpia Musumeci
Olimpia Musumeci
professor of Neurology , University of Messina
Email verificata su unime.it
Titolo
Citata da
Citata da
Anno
Multi-system neurological disease is common in patients with OPA1 mutations
P Yu-Wai-Man, PG Griffiths, GS Gorman, CM Lourenco, AF Wright, ...
Brain 133 (3), 771-786, 2010
4552010
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency
O Musumeci, A Naini, AE Slonim, N Skavin, GL Hadjigeorgiou, ...
Neurology 56 (7), 849-855, 2001
3222001
Phenotypic heterogeneity of the 8344A> G mtDNA “MERRF” mutation
M Mancuso, D Orsucci, C Angelini, E Bertini, V Carelli, GP Comi, C Minetti, ...
Neurology 80 (22), 2049-2054, 2013
2132013
Pharmacological inhibition of necroptosis protects from dopaminergic neuronal cell death in Parkinson’s disease models
A Iannielli, S Bido, L Folladori, A Segnali, C Cancellieri, A Maresca, ...
Cell reports 22 (8), 2066-2079, 2018
2032018
Syndromic parkinsonism and dementia associated with OPA1 missense mutations
V Carelli, O Musumeci, L Caporali, C Zanna, C La Morgia, V Del Dotto, ...
Annals of neurology 78 (1), 21-38, 2015
1882015
Coenzyme Q–responsive Leigh's encephalopathy in two sisters
L Van Maldergem, F Trijbels, S DiMauro, PJ Sindelar, O Musumeci, ...
Annals of Neurology: Official Journal of the American Neurological …, 2002
1712002
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
C Angelini, C Semplicini, S Ravaglia, B Bembi, S Servidei, E Pegoraro, ...
Journal of neurology 259, 952-958, 2012
1612012
The m. 3243A> G mitochondrial DNA mutation and related phenotypes. A matter of gender?
M Mancuso, D Orsucci, C Angelini, E Bertini, V Carelli, GP Comi, A Donati, ...
Journal of neurology 261, 504-510, 2014
1582014
Diagnosis of glycogenosis type II
B Bembi, E Cerini, C Danesino, MA Donati, S Gasperini, L Morandi, ...
Neurology 71 (23_suppl_2), S4-S11, 2008
1452008
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
J Diaz-Manera, PS Kishnani, H Kushlaf, S Ladha, T Mozaffar, V Straub, ...
The Lancet Neurology 20 (12), 1012-1026, 2021
1192021
Surprises of genetic engineering: a possible model of polyglucosan body disease
N Raben, M Danon, N Lu, E Lee, L Shliselfeld, AV Skurat, PJ Roach, ...
Neurology 56 (12), 1739-1745, 2001
1192001
The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients
M Savarese, G Di Fruscio, A Torella, C Fiorillo, F Magri, M Fanin, ...
Neurology 87 (1), 71-76, 2016
1152016
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
F Magri, V Nigro, C Angelini, T Mongini, M Mora, I Moroni, A Toscano, ...
Muscle & nerve 55 (1), 55-68, 2017
1112017
Redefining phenotypes associated with mitochondrial DNA single deletion
M Mancuso, D Orsucci, C Angelini, E Bertini, V Carelli, GP Comi, ...
Journal of neurology 262, 1301-1309, 2015
1062015
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
C Fiorillo, G Astrea, M Savarese, D Cassandrini, G Brisca, F Trucco, ...
Orphanet journal of rare diseases 11, 1-14, 2016
942016
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double …
B Schoser, M Roberts, BJ Byrne, S Sitaraman, H Jiang, P Laforêt, ...
The Lancet Neurology 20 (12), 1027-1037, 2021
912021
Management and treatment of glycogenosis type II
B Bembi, E Cerini, C Danesino, MA Donati, S Gasperini, L Morandi, ...
Neurology 71 (23_suppl_2), S12-S36, 2008
912008
Multisystem late onset Pompe disease (LOPD): an update on clinical aspects
A Toscano, C Rodolico, O Musumeci
Annals of translational medicine 7 (13), 2019
902019
Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15
C Vantaggiato, C Crimella, G Airoldi, R Polishchuk, S Bonato, E Brighina, ...
Brain 136 (10), 3119-3139, 2013
872013
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
O Musumeci, G la Marca, M Spada, S Mondello, C Danesino, GP Comi, ...
Journal of Neurology, Neurosurgery & Psychiatry 87 (1), 5-11, 2016
852016
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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