RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit
出版年份 2023 全文链接
标题
RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit
作者
关键词
-
出版物
JOURNAL OF THE NEUROLOGICAL SCIENCES
Volume -, Issue -, Pages 120565
出版商
Elsevier BV
发表日期
2023-01-28
DOI
10.1016/j.jns.2023.120565
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。- Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series
- (2022) Matteo Azzimonti et al. JOURNAL OF NEUROLOGY
- Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1-disease
- (2021) Andreas Traschütz et al. NEUROLOGY
- Cerebellar ataxia, neuropathy, vestibular areflexia syndrome
- (2021) Roisin Sullivan et al. CURRENT OPINION IN NEUROLOGY
- RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy
- (2021) Matteo Tagliapietra et al. JOURNAL OF NEUROLOGY
- Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
- (2020) Andrea Cortese et al. BRAIN
- RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome
- (2020) Kishore R Kumar et al. BRAIN
- CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions
- (2020) Natalia Dominik et al. JOURNAL OF NEUROLOGY
- Sensory Ganglionopathy
- (2020) Anthony A. Amato et al. NEW ENGLAND JOURNAL OF MEDICINE
- Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
- (2019) Andrea Cortese et al. NATURE GENETICS
- Diagnosis and management of sensory polyneuropathy
- (2019) Kelly Graham Gwathmey et al. BMJ-British Medical Journal
- 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
- 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
- 2016 American College of Rheumatology/European League Against Rheumatism classification criteria for primary Sjögren's syndrome
- (2016) Caroline H Shiboski et al. ANNALS OF THE RHEUMATIC DISEASES
- Chronic idiopathic axonal polyneuropathy: a systematic review
- (2016) Panagiotis Zis et al. JOURNAL OF NEUROLOGY
- Sensory neuronopathies
- (2015) Kelly Graham Gwathmey MUSCLE & NERVE
- Causes of neuropathy in patients referred as “idiopathic neuropathy”
- (2015) Khosro Farhad et al. MUSCLE & NERVE
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