Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

Published:2009-05 Issue:5 Volume:19 Page:344-347
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Jungbluth Heinz,Lillis Suzanne,Zhou Haiyan,Abbs Stephen,Sewry Caroline,Swash Michael,Muntoni Francesco

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference33 articles.

1. Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders;Treves;Neuromuscul Disord,2005

2. A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia;Gillard;Genomics,1991

3. A mutation in the human ryanodine receptor gene associated with central core disease;Zhang;Nat Genet,1993

4. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene;Jungbluth;Neurology,2005

5. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene;Jungbluth;Neuromuscul Disord,2007

Cited by 44 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. CACNA1S Variant Associated With a Myalgic Myopathy Phenotype;Neurology;2023-10-31

2. Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility;Journal of Neuromuscular Diseases;2023-07-04

3. Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies;Journal of General Physiology;2022-08-18

4. Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy;Cells;2021-06-16

5. Congenital Myopathies and Related Disorders;Muscle Biopsy;2021

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