| 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 | 608 | 1992 |
| Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder M Hirano, G Silvestri, DM Blake, A Lombes, C Minetti, E Bonilla, AP Hays, ... Neurology 44 (4), 721-721, 1994 | 494 | 1994 |
| 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 | 321 | 1999 |
| A new mtDNA mutation in the tRNA (Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). G Silvestri, CT Moraes, S Shanske, SJ Oh, S DiMauro American journal of human genetics 51 (6), 1213, 1992 | 310 | 1992 |
| Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA CT Moraes, F Ciacci, G Silvestri, S Shanske, M Sciacco, M Hirano, ... Neuromuscular Disorders 3 (1), 43-50, 1993 | 300 | 1993 |
| 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 | 250 | 1993 |
| Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression M Pescatori, A Broccolini, C Minetti, E Bertini, C Bruno, A D'amico, ... The FASEB Journal 21 (4), 1210-1226, 2007 | 244 | 2007 |
| Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1 A Modoni, G Silvestri, MG Pomponi, F Mangiola, PA Tonali, C Marra Archives of neurology 61 (12), 1943-1947, 2004 | 205 | 2004 |
| A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy G Silvestri, FM Santorelli, S Shanske, CB Whitley, LA Schimmenti, ... Human mutation 3 (1), 37-43, 1994 | 205 | 1994 |
| Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency S Di Giovanni, M Mirabella, A Spinazzola, P Crociani, G Silvestri, ... Neurology 57 (3), 515-518, 2001 | 186 | 2001 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 184 | 2019 |
| Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies S Servidei, M Zeviani, G Manfredi, E Ricci, G Silvestri, E Bertini, C Gellera, ... Neurology 41 (7), 1053-1053, 1991 | 178 | 1991 |
| Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism M Mirabella, S Di Giovanni, G Silvestri, P Tonali, S Servidei Brain 123 (1), 93-104, 2000 | 154 | 2000 |
| Cardiac features of Emery–Dreifuss muscular dystrophy caused by lamin A/C gene mutations T Sanna, A Dello Russo, D Toniolo, M Vytopil, G Pelargonio, ... European heart journal 24 (24), 2227-2236, 2003 | 150 | 2003 |
| Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome E Ciafaloni, E Ricci, S Servidei, S Shanske, G Silvestri, G Manfredi, ... Neurology 41 (10), 1663-1663, 1991 | 120 | 1991 |
| Fatal infantile liver failure associated with mitochondrial DNA depletion MRM Mazziotta, E Ricci, E Bertini, CD Vici, S Servidei, AB Burlina, ... The Journal of pediatrics 121 (6), 896-901, 1992 | 118 | 1992 |
| Cognitive impairment in myotonic dystrophy type 1 (DM1) a longitudinal follow-up study A Modoni, G Silvestri, MG Vita, D Quaranta, PA Tonali, C Marra Journal of neurology 255, 1737-1742, 2008 | 109 | 2008 |
| Abnormal brain and muscle energy metabolism shown by 31P-MRS in familial hemiplegic migraine A Uncini, R Lodi, A Di Muzio, G Silvestri, S Servidei, A Lugaresi, S Iotti, ... Journal of the neurological sciences 129 (2), 214-222, 1995 | 102 | 1995 |
| Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early‐onset levodopa‐responsive Parkinsonism A Guidubaldi, C Piano, FM Santorelli, G Silvestri, M Petracca, A Tessa, ... Movement Disorders 26 (3), 553-556, 2011 | 76 | 2011 |
| Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion‐body myopathy A Broccolini, E Ricci, D Cassandrini, C Gliubizzi, C Bruno, E Tonoli, ... Human mutation 23 (6), 632-632, 2004 | 75 | 2004 |
