Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
出版年份 2020 全文链接
标题
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
作者
关键词
-
出版物
BRAIN
Volume 143, Issue 2, Pages 480-490
出版商
Oxford University Press (OUP)
发表日期
2020-01-11
DOI
10.1093/brain/awz418
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。- 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
- Mortality From Falls Among US Adults Aged 75 Years or Older, 2000-2016
- (2019) Klaas A. Hartholt et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)
- (2018) Masakatsu Taki et al. AURIS NASUS LARYNX
- Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study
- (2018) L. Pelosi 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
- Normal tendon reflexes despite absent sensory nerve action potentials in CANVAS: a neurophysiological study
- (2018) David Burke et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Bilateral vestibulopathy: Diagnostic criteria Consensus document of the Classification Committee of the Bárány Society
- (2017) Michael Strupp et al. JOURNAL OF VESTIBULAR RESEARCH-EQUILIBRIUM & ORIENTATION
- Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome: a slowly progressive disorder with stereotypical presentation
- (2015) Daniele Cazzato et al. JOURNAL OF NEUROLOGY
- Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome
- (2014) T. Y. Wu et al. BRAIN
- A brief review of the clinical anatomy of the vestibular-ocular connections—how much do we know?
- (2014) A M Bronstein et al. EYE
- Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS
- (2014) D. J. Szmulewicz et al. NEUROLOGY
- Vestibular Perception following Acute Unilateral Vestibular Lesions
- (2013) Sian Cousins et al. PLoS One
- Balance disorders in the elderly: Epidemiology and functional impact
- (2012) Harrison W. Lin et al. LARYNGOSCOPE
- 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
- The pattern and diagnostic criteria of sensory neuronopathy: a case-control study
- (2009) J.-P. Camdessanche et al. BRAIN
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started