Gabriella Silvestri

MELAS: Clinical features, biochemistry, and molecular genetics

Emma Ciafaloni, Enzo Ricci, Sara Shanske et al. · Annals of Neurology · 1992 · 509 citations

Life Sciences, Genetics, Molecular Genetics +17

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

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

Life Sciences, Neurology, Neuroscience +17

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 · 301 citations

Life Sciences, Genetics, Molecular Genetics +12

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

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 · 246 citations

Life Sciences, Genetics, Molecular Biology +17