Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference38 articles.
1. Progressive myoclonus epilepsies;Kälviäinen;Semin Neurol,2015
2. Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: High degree of allelic heterogeneity and prevalence of deletions;Gómez-Garre;Eur J Hum Genet,2000
3. Lafora disease due to EPM2B mutations: A clinical and genetic study;Gómez-Abad;Neurology,2005
4. A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping;Berkovic;Brain,2005
5. Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population;Singh;J Hum Genet,2005
Cited by 4 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. Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions;International Journal of Molecular Sciences;2024-06-16
2. Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review;BMC Neurology;2022-03-28
3. Myoclonus‐Ataxia Syndromes: A Diagnostic Approach;Movement Disorders Clinical Practice;2020-11-03
4. An elongated tract of polyQ in the carboxyl‑terminus of human α1A calcium channel induces cell apoptosis by nuclear translocation;Oncology Reports;2020-04-22
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