Silvia Baratta

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Daniela Di Bella, Federico Lazzaro, Alfredo Brusco et al. · Nature Genetics · 2010 · 338 citations

Mitochondrial Function, Genetic Disorder, Genetics +4

Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation

Davide Pareyson, Franco Taroni, Sara Botti et al. · Neurology · 2000 · 87 citations · Full text

Craniofacial Disorder, Brain Development, Neurological Disorder +19

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

Menelaos Pipis, Shawna Feely, James M. Polke et al. · Brain · 2020 · 87 citations · Full text

Molecular and functional analysis ofSLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency

Vito Iacobazzi, Federica Invernizzi, Silvia Baratta et al. · Human Mutation · 2004 · 76 citations

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families

Maria Luisa Mostacciuolo, Elisabetta Righetti, M. Zortea et al. · Human Mutation · 2001 · 58 citations

Neurological Disorder, Genetics, Genetic Epidemiology +19