RFC1 expansions are a common cause of idiopathic sensory neuropathy

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

(2020) Andrea Cortese et al.   BRAIN

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

(2020) Mai Tsuchiya et al.   JOURNAL OF HUMAN GENETICS

Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort

(2020) Dona Aboud Syriani et al.   Neurology-Genetics

Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy

(2020) Linlin Wan et al.   ANNALS OF 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

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres

(2018) Jon Infante et al.   JOURNAL OF NEUROLOGY

Normal tendon reflexes despite absent sensory nerve action potentials in CANVAS: a neurophysiological study

(2018) David Burke et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Chronic idiopathic axonal polyneuropathy: a systematic review

(2016) Panagiotis Zis et al.   JOURNAL OF NEUROLOGY

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy

(2016) Wei Wang et al.   NEUROLOGY

Comparison of the Bedside Head-Impulse Test with the Video Head-Impulse Test in a Clinical Practice Setting: A Prospective Study of 500 Outpatients

(2016) Chun Wai Yip et al.   Frontiers in Neurology

The epidemiology and risk factors of chronic polyneuropathy

(2015) Rens Hanewinckel et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

Causes of neuropathy in patients referred as “idiopathic neuropathy”

(2015) Khosro Farhad et al.   MUSCLE & NERVE

Inherited Neuropathies

(2015) M. Reilly et al.   SEMINARS IN NEUROLOGY

Incidence of polyneuropathy in Utrecht, the Netherlands

(2014) N. A. Visser et al.   NEUROLOGY

North America and South America (NA-SA) neuropathy project

(2013) Mamatha Pasnoor et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Tafamidis for transthyretin familial amyloid polyneuropathy: A randomized, controlled trial

(2012) T. Coelho et al.   NEUROLOGY

Evaluation of distal symmetric polyneuropathy: The role of laboratory and genetic testing (an evidence-based review)

(2008) J.D. England et al.   MUSCLE & NERVE