Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) by Focusing on Major Clinical Clues: Beyond Ataxia and Vestibular Impairment

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

(2020) Andrea Cortese et al.   BRAIN

The ataxic neuropathies

(2020) Stéphane Mathis et al.   JOURNAL 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

Heterogeneity of cough neurobiology: Clinical implications

(2019) Stuart B. Mazzone et al.   PULMONARY PHARMACOLOGY & THERAPEUTICS

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

The role of skin biopsy in differentiating small-fiber neuropathy from ganglionopathy

(2018) V. Provitera et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

Skin Biopsy Findings in Patients With CMT1A: Baseline Data From the CLN-PXT3003-01 Study Provide New Insights Into the Pathophysiology of the Disorder

(2018) Mathilde Duchesne et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL 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

The heterogeneity of chronic cough: a case for endotypes of cough hypersensitivity

(2018) Stuart B Mazzone et al.   Lancet Respiratory Medicine

Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

(2015) David J. Szmulewicz et al.   MUSCLE & NERVE

Small fibers, large impact: Quality of life in small-fiber neuropathy

(2013) Mayienne Bakkers et al.   MUSCLE & NERVE

Chronic cough as a neuropathic disorder

(2013) Kian Fan Chung et al.   Lancet Respiratory Medicine

Nerve biopsy: requirements for diagnosis and clinical value

(2011) Jean-Michel Vallat et al.   ACTA NEUROPATHOLOGICA

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

Non-length dependent small fibre neuropathy/ganglionopathy

(2007) K C Gorson et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY