Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic
Author:
Funder
Ataxia Ireland
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Link
https://link.springer.com/content/pdf/10.1007/s12311-020-01180-0.pdf
Reference37 articles.
1. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet. 1983;1(8334):1151–5.
2. Jayadev S, Bird TD. Hereditary ataxias: overview. Gen Med. 2013;15:673–83.
3. Beaudin M, Matilla-Dueñas A, Soong BW, Pedroso JL, Barsottini OG, Mitoma H, et al. The classification of autosomal recessive cerebellar ataxias: a consensus statement from the society for research on the cerebellum and ataxias task force. Cerebellum. 2019;18(6):1098–125.
4. Pfeffer G, Pyle A, Griffin H, Miller J, Wilson V, Turnbull L, et al. SPG7 mutations are a common cause of undiagnosed ataxia. Neurology. 2015;84(11):1174–6.
5. Chun HH, Gatti RA. Ataxia–telangiectasia, an evolving phenotype. DNA Repair (Amst). 2004;3(8–9):1187–96.
Cited by 18 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. Targeted long-read sequencing as a single assay improves diagnosis of spastic-ataxia disorders;2024-09-06
2. Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms;The Cerebellum;2024-07-24
3. An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches;The Cerebellum;2024-05-18
4. Genetic aspects of ataxias in a cohort of Turkish patients;Neurological Sciences;2024-04-08
5. The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population;Human Genomics;2024-04-03
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3