CANVAS: A very late onset cerebellar ataxia, due to biallelic expansions in the RFC1 gene
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference6 articles.
1. The aetiology of sporadic adult-onset ataxia;Abele;Brain,2002
2. Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work;Gebus;J Neurol,2017
3. Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign;Migliaccio;Brain,2004
4. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis;Szmulewicz;Ann N Y Acad Sci,2011
5. Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS);Szmulewicz;Neurol Clin Pract,2016
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Structural investigation of pathogenic RFC1 AAGGG pentanucleotide repeats reveals a role of G-quadruplex in dysregulated gene expression in CANVAS;Nucleic Acids Research;2024-01-24
2. CANVAS, a sensory neuronopathy to look for in ataxia;Revue Neurologique;2023-10
3. RFC1AAGGG pentanucleotide repeats form parallel G-quadruplex: structural implications for aberrant molecular cascades in CANVAS;2023-08-06
4. Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS);The Cerebellum;2020-10-04
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