A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

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

(2020) Andrea Cortese et al.   BRAIN

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

(2020) Sarah J. Beecroft et al.   Annals of Clinical and Translational Neurology

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

Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study

(2018) L. Pelosi et al.   EUROPEAN JOURNAL OF NEUROLOGY

Peripheral nerve ultrasound in cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS)

(2016) Luciana Pelosi et al.   MUSCLE & NERVE

Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome

(2014) T. Y. Wu et al.   BRAIN

Dating Rare Mutations from Small Samples with Dense Marker Data

(2014) Luke C. Gandolfo et al.   GENETICS

Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS

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

Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome

(2011) D. J. Szmulewicz et al.   NEUROLOGY

Generating linkage mapping files from Affymetrix SNP chip data

(2009) M. Bahlo et al.   BIOINFORMATICS

Dating the late prehistoric dispersal of Polynesians to New Zealand using the commensal Pacific rat

(2008) J. M. Wilmshurst et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA