Pedro José Tomaselli

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

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Andrea Cortese, Stefano Tozza, Wai Yan Yau et al. · Brain · 2020 · 220 citations · Full text

Medicine, Molecular Genetics, Neurology +13

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease

Andrea Cortese, Janel E. Wilcox, James M. Polke et al. · Neurology · 2019 · 101 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis

Natalia Dominik, Stefania Magri, Riccardo Curró et al. · Brain · 2023 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in noncoding regions of <i>GJB1</i> are a major cause of X-linked CMT

Pedro José Tomaselli, Alexander M. Rossor, Alejandro Horga et al. · Neurology · 2017 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13