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

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

(2020) Andrea Cortese et al.   BRAIN

Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS

(2020) Haruko Nakamura et al.   JOURNAL OF HUMAN GENETICS

No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSA

(2020) Yu Fan et al.   PARKINSONISM & RELATED DISORDERS

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

(2019) Andrea Cortese et al.   NATURE GENETICS

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

(2019) Haloom Rafehi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

(2019) Fulya Akçimen et al.   Frontiers in Genetics

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)

(2018) Masakatsu Taki et al.   AURIS NASUS LARYNX

Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS

(2014) D. J. Szmulewicz et al.   NEUROLOGY