Contributions to the study of spinocerebellar ataxia type 38 (SCA38)

Scale for the assessment and rating of ataxia

T. Schmitz-Hübsch, Sophie Tézenas du Montcel, L. Baliko et al. · Neurology · 2006 · 2K citations · Full text

Life Sciences, Neurology, Neuroscience +16

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

Bilateral vestibulopathy: Diagnostic criteria Consensus document of the Classification Committee of the Bárány Society1

Michael Strupp, Ji‐Soo Kim, Toshihisa Murofushi et al. · Journal of Vestibular Research · 2017 · 575 citations · Full text

Medicine, Neurology, Otology +16

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett et al. · The American Journal of Human Genetics · 2019 · 285 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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