Gabriella Silvestri

MELAS: Clinical features, biochemistry, and molecular genetics

Emma Ciafaloni, Enzo Ricci, Sara Shanske et al. · Annals of Neurology · 1992 · 506 citations

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Michio Hirano, Gabriella Silvestri, D. M. Blake et al. · Neurology · 1994 · 407 citations

Mitochondrial Myopathy, Neuromusculoskeletal Disorder, Peripheral Neuropathy +14

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number ofKpnI repeats at the 4q35 locus and clinical phenotype

Enzo Ricci, Giuliana Galluzzi, Giancarlo Deidda et al. · Annals of Neurology · 1999 · 296 citations

Ecori Fragment Size, Rare Diseases, Facioscapulohumeral Muscular Dystrophy +15

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

Mario Pescatori, Aldobrando Broccolini, Carlo Minetti et al. · The FASEB Journal · 2007 · 244 citations

Muscle Function, Engineering, Genetics +17

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

Carlos T. Moraes, Federica Ciacci, Gabriella Silvestri et al. · Neuromuscular Disorders · 1993 · 237 citations

Somatic Variant, Mitochondrial Function, Genetic Disorder +12