The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force
Author:
Funder
Canadian Institutes of Health Research
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
http://link.springer.com/content/pdf/10.1007/s12311-019-01052-2.pdf
Reference285 articles.
1. Klein CJ, Foroud TM. Neurology individualized medicine: when to use next-generation sequencing panels. Mayo Clin Proc. 2017;92(2):292–305. https://doi.org/10.1016/j.mayocp.2016.09.008 .
2. Bahlo M, Bennett MF, Degorski P, Tankard RM, Delatycki MB, Lockhart PJ. Recent advances in the detection of repeat expansions with short-read next-generation sequencing. F1000Res. 2018;7. https://doi.org/10.12688/f1000research.13980.1 .
3. Beaudin M, Klein CJ, Rouleau GA, Dupre N. Systematic review of autosomal recessive ataxias and proposal for a classification. Cerebellum Ataxias. 2017;4:3. https://doi.org/10.1186/s40673-017-0061-y .
4. Rossi M, Anheim M, Durr A, Klein C, Koenig M, Synofzik M, et al. The genetic nomenclature of recessive cerebellar ataxias. Mov Disord. 2018;33(7):1056–76. https://doi.org/10.1002/mds.27415 .
5. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, et al. Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271(5254):1423–7.
Cited by 90 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. The Contributions of Pitch, Loudness, and Rate Control to Speech Naturalness in Cerebellar Ataxia;American Journal of Speech-Language Pathology;2024-09-06
2. Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes;Human Genome Variation;2024-08-30
3. Ataxias in Brazil: 17 years of experience in an ataxia center;ARQ NEURO-PSIQUIAT;2024
4. Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia;2024-07-16
5. The importance of synthetic pharmacotherapy for recessive cerebellar ataxias;Expert Review of Neurotherapeutics;2024-07-09
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