Vincenzo Salpietro

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese, Roberto Simone, Roisin Sullivan et al. · Nature Genetics · 2019 · 581 citations · Full text

Life Sciences, Neurology, Neurogenetics +9

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 303 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Expanding the genetic heterogeneity of intellectual disability

Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro et al. · Human Genetics · 2017 · 176 citations

Life Sciences, Genetics, Molecular Genetics +14

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

Niccolò E. Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima et al. · The American Journal of Human Genetics · 2016 · 119 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

Andreea Manole, Zane Jaunmuktane, Iain P. Hargreaves et al. · Brain · 2017 · 96 citations · Full text

Medicine, Neurology, Neuroscience +17