Inherited Isolated Dystonia: Clinical Genetics and Gene Function
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Clinical Neurology,Pharmacology
Link
http://link.springer.com/content/pdf/10.1007/s13311-014-0297-7.pdf
Reference114 articles.
1. Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013;28:863–873.
2. Tanabe LM, Kim CE, Alagem N, Dauer WT. Primary dystonia: molecules and mechanisms. Nat Rev Neurol 2009;5:598–609.
3. Xiao J, Uitti RJ, Zhao Y, et al. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol 2012;71:458–469.
4. Charlesworth, G, Plagnol, V, Holmstrom, KM, et al. Mutations in Ano3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet 2012;91:1041–1050.
5. Klein C. Genetics in dystonia. Parkinsonism Relat Disord 2014;20 Suppl 1:S137–S142.
Cited by 23 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. RANBP17 Overexpression Restores Nucleocytoplasmic Transport and Ameliorates Neurodevelopment in Induced DYT1 Dystonia Motor Neurons;The Journal of Neuroscience;2024-03-04
2. DYT-TOR1A dystonia: an update on pathogenesis and treatment;Frontiers in Neuroscience;2023-08-10
3. Disease Modeling with Human Neurons Reveals LMNB1 Dysregulation Underlying DYT1 Dystonia;The Journal of Neuroscience;2021-01-19
4. Dystonia;Principles and Practice of Movement Disorders;2021
5. Mutational spectrum of GNAL , THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review;European Journal of Neurology;2020-12-06
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