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Serenella Servidei
Serenella Servidei
Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore
Verified email at unicatt.it - Homepage
Title
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Cited by
Year
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
CT Moraes, S DiMauro, M Zeviani, A Lombes, S Shanske, AF Miranda, ...
New England Journal of Medicine 320 (20), 1293-1299, 1989
11941989
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
M Zeviani, S Servidei, C Gellera, E Bertini, S DiMauro, S DiDonato
Nature 339 (6222), 309-311, 1989
7651989
MELAS: clinical features, biochemistry, and molecular genetics
E Ciafaloni, E Ricci, S Shanske, CT Moraes, G Silvestri, M Hirano, ...
Annals of Neurology: Official Journal of the American Neurological …, 1992
6081992
Cytochrome c oxidase deficiency in leigh syndrome
S DiMauro, S Servidei, M Zeviani, M DiRocco, DC DeVivo, S DiDonato, ...
Annals of neurology 22 (4), 498-506, 1987
4441987
Prothrombin G20210A mutant genotype is a risk factor for cerebrovascular ischemic disease in young patients
V De Stefano, P Chiusolo, K Paciaroni, I Casorelli, E Rossi, M Molinari, ...
Blood, The Journal of the American Society of Hematology 91 (10), 3562-3565, 1998
3591998
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2
DE Neilson, MD Adams, CMD Orr, DK Schelling, RM Eiben, DS Kerr, ...
The American Journal of Human Genetics 84 (1), 44-51, 2009
3462009
Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
E Lamantea, V Tiranti, A Bordoni, A Toscano, F Bono, S Servidei, ...
Annals of neurology 52 (2), 211-219, 2002
3282002
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical …
E Ricci, G Galluzzi, G Deidda, S Cacurri, L Colantoni, B Merico, N Piazzo, ...
Annals of Neurology: Official Journal of the American Neurological …, 1999
3211999
Correlating phenotype and genotype in the periodic paralyses
TM Miller, MR Dias da Silva, HA Miller, H Kwiecinski, JR Mendell, R Tawil, ...
Neurology 63 (9), 1647-1655, 2004
2892004
Clinical features associated with the A→ G transition at nucleotide 8344 of mtDNA (“MERRF mutation”)
G Silvestri, E Ciafaloni, FM Santorelli, S Shanske, S Servidei, WD Graf, ...
Neurology 43 (6), 1200-1200, 1993
2511993
Cerebellar ataxia and coenzyme Q10 deficiency
C Lamperti, A Naini, M Hirano, DC De Vivo, E Bertini, S Servidei, ...
Neurology 60 (7), 1206-1208, 2003
2382003
Enhanced dystrophic progression in mdx mice by exercise and beneficial effects of taurine and insulin-like growth factor-1
A De Luca, S Pierno, A Liantonio, M Cetrone, C Camerino, B Fraysse, ...
Journal of Pharmacology and Experimental Therapeutics 304 (1), 453-463, 2003
2362003
Focal status epilepticus as unique clinical feature of COVID-19: a case report
C Vollono, E Rollo, M Romozzi, G Frisullo, S Servidei, A Borghetti, ...
Seizure 78, 109-112, 2020
2352020
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy
I Tein, DC De Vivo, F Bierman, P Pulver, LJ De Meirleir, ...
Pediatric Research 28 (3), 247-255, 1990
2301990
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway
HY Lee, Y Xu, Y Huang, AH Ahn, GWJ Auburger, M Pandolfo, ...
Human molecular genetics 13 (24), 3161-3170, 2004
2222004
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease.
M Zeviani, N Bresolin, C Gellera, A Bordoni, M Pannacci, P Amati, ...
American journal of human genetics 47 (6), 904, 1990
2071990
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase: a new mitochondrial multisystem disorder
A Bardosi, W Creutzfeldt, S DiMauro, K Felgenhauer, RL Friede, ...
Acta neuropathologica 74, 248-258, 1987
2071987
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
2052013
Metabolic causes of myoglobinuria
P Tonin, P Lewis, S Servidei, S Dimauro
Annals of Neurology: Official Journal of the American Neurological …, 1990
2021990
Response to therapy in myasthenia gravis with anti‐MuSK antibodies
A Evoli, MR Bianchi, R Riso, GM Minicuci, AP Batocchi, S Servidei, ...
Annals of the New York Academy of Sciences 1132 (1), 76-83, 2008
1912008
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