Maria Concetta Cutrupi

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

A loss-of-function homozygous mutation in <i>DDX59</i> implicates a conserved DEAD-box RNA helicase in nervous system development and function

Vincenzo Salpietro, Stéphanie Efthymiou, Andreea Manole et al. · Human Mutation · 2017 · 54 citations · Full text

Life Sciences, Genetics, Neuroscience +15

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency

Efterpi Pavlidou, Vincenzo Salpietro, Rahul Phadke et al. · European Journal of Paediatric Neurology · 2016 · 53 citations

Medicine, Neurology, Neuroscience +15

Kabuki syndrome and cancer in two patients

Manuela Tumino, Maria Licciardello, Giovanni Sorge et al. · American Journal of Medical Genetics Part A · 2010 · 29 citations · Full text

Medicine, Oncology, Pediatrics +9