KCNN2 mutation in autosomal‐dominant tremulous myoclonus‐dystonia-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

KCNN2 mutation in autosomal‐dominant tremulous myoclonus‐dystonia

Published:2020-05-03 Issue:8 Volume:27 Page:1471-1477
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Balint B.¹²^ORCID,Guerreiro R.³⁴,Carmona S.³⁴,Dehghani N.³⁴,Latorre A.¹⁵^ORCID,Cordivari C.⁶,Bhatia K. P.¹,Bras J.³⁴

Affiliation:

1. Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology London UK

2. Department of Neurology University Hospital Heidelberg Germany

3. Dementia Research Institute at UCL and Department of Neurodegenerative Diseases UCL Institute of Neurology London UK

4. Center for Neurodegenerative Science Van Andel Research Institute Grand Rapids MI USA

5. Department of Human Neurosciences Sapienza University of Rome Rome Italy

6. Department of Clinical Neurophysiology National Hospital for Neurology and Neurosurgery London UK

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.14228

Reference27 articles.

1. Phenomenology and classification of dystonia: A consensus update

2. Isolated and combined dystonia syndromes - an update on new genes and their phenotypes

3. A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

4. A framework for variation discovery and genotyping using next-generation DNA sequencing data

5. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Cited by 24 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. Anoctamins in epithelial transport;Cell Calcium;2024-06

2. Genetics and Pathogenesis of Dystonia;Annual Review of Pathology: Mechanisms of Disease;2024-01-24

3. Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia;Brain;2023-12-11

4. The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list;Parkinsonism & Related Disorders;2023-12

5. APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature;Genes;2023-07-23

同舟云学术

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