Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features

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

(2020) Andrea Cortese et al.   BRAIN

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

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

CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions

(2020) Natalia Dominik et al.   JOURNAL 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

VEMPs and Dysautonomia Assessment in Definite Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS): a Case Series Study

(2019) David Moreno-Ajona et al.   CEREBELLUM

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)

(2018) Masakatsu Taki et al.   AURIS NASUS LARYNX

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

Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family

(2018) Hena Ahmad et al.   Frontiers in Genetics

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

(2014) T. Y. Wu et al.   BRAIN

Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS

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

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis

(2011) David J. Szmulewicz et al.   Annals of the New York Academy of Sciences

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

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