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 · 564 citations · Full text

Biallelic Expansion, Neurological Disorder, Genetic Disorder +5

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 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

Expanding the genetic heterogeneity of intellectual disability

Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro et al. · Human Genetics · 2017 · 173 citations

Intellectual Impairment, Genetics, Disability +6

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 · 117 citations · Full text

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

Andreea Manole, Zane Jaunmuktane, Iain P. Hargreaves et al. · Brain · 2017 · 94 citations · Full text

Riboflavin-responsive Neuropathy, Mitochondrial Dysfunction, Neurological Disorder +16