Clinical utility gene card for: Central core disease-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Clinical utility gene card for: Central core disease

Published:2011-10-12 Issue:2 Volume:20 Page:5-5
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Lillis Suzanne,Abbs Stephen,Mueller Clemens R,Muntoni Francesco,Jungbluth Heinz

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2011179.pdf

Reference38 articles.

1. Jungbluth H : Central core disease. Orphanet J Rare Dis 2007; 2: 25.

2. Jungbluth H, Muntoni F, Ferreiro A, Core Myopathy Consortium: 150th ENMC International Workshop: Core Myopathies, 9–11th March 2007, Naarden, The Netherlands. Neuromuscul Disord 2008; 18: 989–996.

3. Treves S, Jungbluth H, Muntoni F, Zorzato F : Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Curr Opin Pharmacol 2008; 8: 319–326.

4. Monnier N, Marty I, Faure J et al: Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat 2008; 29: 670–678.

5. Tilgen N, Zorzato F, Halliger-Keller B et al: Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet 2001; 10: 2879–2887.

Cited by 5 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. Update on the Genetics of Congenital Myopathies;Seminars in Pediatric Neurology;2019-04

2. Ethical Concerns in Citizen Science Projects and Public Engagement Related Research Projects;ETHICAL PERSPECT;2019

3. Abnormal calcium signalling and the caffeine–halothane contracture test;British Journal of Anaesthesia;2019-01

4. Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings;Frontiers in Neurology;2018-03-05

5. A chemical chaperone improves muscle function in mice with a RyR1 mutation;Nature Communications;2017-03-24

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