New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects

(2021) Andrea Cortese et al.   Practical Neurology

Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome

(2021) Satoko Miyatake et al.   BRAIN

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

(2020) Andrea Cortese et al.   BRAIN

The replisome guides nucleosome assembly during DNA replication

(2020) Wenshuo Zhang et al.   Cell and Bioscience

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE