Epilepsy and episodic ataxia type 2: family study and review of the literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
https://link.springer.com/content/pdf/10.1007/s00415-021-10555-0.pdf
Reference28 articles.
1. Jen J, Kim GW, Baloh RW (2004) Clinical spectrum of episodic ataxia type 2. Neurology 62(1):17–22. https://doi.org/10.1212/01.wnl.0000101675.61074.50
2. Catterall WA (2000) Structure and regulation of voltage-gated Ca2+ channels. Annu Rev Cell Dev Biol 16:521–555. https://doi.org/10.1146/annurev.cellbio.16.1.52
3. Mantuano E, Romano S, Veneziano L, Gellera C, Castellotti B, Caimi S et al (2010) Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. J Neurol Sci 291(1–2):30–36. https://doi.org/10.1016/j.jns.2010.01.010
4. Ilg W, Bastian AJ, Boesch S, Burciu RG, Celnik P, Claaben J et al (2014) Consensus paper: management of degenerative cerebellar disorders. Cerebellum 13(2):248–268. https://doi.org/10.1007/s12311-013-0531-6
5. Strupp M, Kalla R, Claassen J, Adrion C, Mansmann U, Klopstock T et al (2011) A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias. Neurology 77(3):269–275. https://doi.org/10.1212/WNL.0b013e318225ab07
Cited by 15 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. Getting on the Right Foot: Using Observational and Quantitative Methods to Evaluate Movement Disorders;Proceedings of the 29th International Conference on Intelligent User Interfaces;2024-03-18
2. Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A;Human Genome Variation;2024-01-15
3. Inherited episodic ataxia type 2 in pregnancy: A case report;International Journal of Gynecology & Obstetrics;2023-12-07
4. Causas centrales estructurales de vértigo en la infancia;Revista ORL;2023-10-16
5. Genetic Mechanisms of Migraine: Insights from Monogenic Migraine Mutations;International Journal of Molecular Sciences;2023-08-11
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