标题
CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions
作者
关键词
-
出版物
JOURNAL OF NEUROLOGY
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-09-10
DOI
10.1007/s00415-020-10183-0
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
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- Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS
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- No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSA
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- Involvement of Peripheral Nerves in the Transgenic PLP-α-Syn Model of Multiple System Atrophy: Extending the Phenotype
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- Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome
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- Clinical Features of Friedreich Ataxia
- (2012) Martin B. Delatycki et al. JOURNAL OF CHILD NEUROLOGY
- Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis
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- Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome
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- (2009) Thomas Klockgether LANCET NEUROLOGY
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