Gabriella Di Rosa

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome

Grégory Raux, Emilie Bumsel, B. Hecketsweiler et al. · Human Molecular Genetics · 2006 · 171 citations

Life Sciences, Genetics, Molecular Genetics +15

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

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

The semiology of psychogenic nonepileptic seizures revisited: Can video alone predict the diagnosis? Preliminary data from a prospective feasibility study

Giuseppe Erba, Giorgia Giussani, Adam Juersivich et al. · Epilepsia · 2016 · 72 citations · Full text

Medicine, Neurology, Neuroscience +17