登录 注册 会员服务 联系我们

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy

  • Published:2004-01-27 Issue:2 Volume:23 Page:170-176
  • ISSN:1059-7794
  • Container-title:Human Mutation
  • language:en
  • Short-container-title:Human Mutation

Author:

Ianzano Leonarda1,Young Edwin J.1,Zhao Xiao C.1,Chan Elayne M.12,Rodriguez M. T.3,Torrado Maria V.4,Scherer Stephen W.1,Minassian Berge A.5

Affiliation:

1. Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada

2. Department of Medical Genetics and Microbiology, University of Toronto, Toronto, Canada

3. Pediatric Department, Narciso Lopez Hospital Lanus, Buenos Aires, Argentina

4. M.V. Department of Genetics, National Pediatric Hospital Dr. Juan P. Garrahan, Buenos Aires, Argentina

5. Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, Toronto, Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. Mutations in the EPM2B gene cause progressive myoclonus epilepsy;Chan EM;Nature Genetics

2. Myoclonus epilepsy with Lafora bodies;Collins GH;An ultrastructural and cytochemical study. Arch Pathol,1968

3. Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes

4. Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice

Cited by 33 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

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