Concepedia

Vincenzo Salpietro

VS

Statistics

Publications

4

Citations

148

H-Index

4

Active since

2018

Affiliations

University College London(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

National Hospital for Neurology and Neurosurgery

Istituto Giannina Gaslini

King Faisal Specialist Hospital & Research Centre

Vincenzo Salpietro is an author at University College London specializing in neurogenetic disorders, molecular genetics, and life sciences.

Publications per year

2018–2023

4

Publications

4

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Stéphanie Efthymiou, Vincenzo Salpietro, Nancy T. Malintan et al. · Brain · 2019 · 69 citations · Full text

, , +17

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

Caroline Neuray, Reza Maroofian, Marcello Scala et al. · Brain · 2020 · 50 citations · Full text

, , +17

Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature

Salvatore Savasta, Francesco Bassanese, Chiara Buschini et al. · Journal of Pediatric Genetics · 2018 · 18 citations · Full text

, , +16

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

Andrea Accogli, Sheng‐Jia Lin, Mariasavina Severino et al. · Genetics in Medicine · 2023 · 11 citations · Full text

, , +17

1–4 of 4