RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia

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

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 · 276 citations · Full text

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

Andrea Cortese, Stefano Tozza, Wai Yan Yau et al. · Brain · 2020 · 213 citations · Full text

Vestibular Areflexia Syndrome, Motor Dysfunction, Neurological Disorder +18

Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS

David J. Szmulewicz, Catriona McLean, Michael Rodriguez et al. · Neurology · 2014 · 122 citations · Full text

Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion

Damian Labuda, Carlos J. Miranda, John T. Poirier et al. · Neurology · 2000 · 100 citations

Allelic Variant, East Asian Studies, Genetic Disorder +11