Eugenia Borgione

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

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas et al. · The American Journal of Human Genetics · 2019 · 127 citations · Full text

Life Sciences, Neurobiology, Neuroscience +12

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

Lucía Schottlaender, Rosella Abeti, Zane Jaunmuktane et al. · The American Journal of Human Genetics · 2020 · 85 citations · Full text

Life Sciences, Genetics, Neurology +17

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Marcella Neri, Rachele Rossi, Cecilia Trabanelli et al. · Frontiers in Genetics · 2020 · 84 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Massimo Zollo, Veronica Ferrucci, Vincenzo Salpietro et al. · Brain · 2017 · 75 citations · Full text

Life Sciences, Genetics, Neuroscience +17