Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia congenita in humans-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia congenita in humans

Published:1999-07 Issue:2 Volume:518 Page:337-344
ISSN:0022-3751
Container-title:The Journal of Physiology
language:en
Short-container-title:The Journal of Physiology

Author:

Bendahhou Saïd¹,Cummins Theodore R.²³,Kwiecinski Hubert⁴,Waxman Stephen G.²³,Ptácek Louis J.¹

Affiliation:

1. Howard Hughes Medical Institute, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA,

2. Departments of Neurology and Pharmacology, Yale University School of Medicine, New Haven, CT 06510, USA,

3. Neuroscience Research Center, VA Medical Center, West Haven, CT 06516, USA and Poland

4. Department of Neurology, Medical Academy of Warsaw, 02‐097 Warsaw, Poland

Publisher

Wiley

Subject

Physiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1469-7793.1999.0337p.x

Reference30 articles.

1. Mechanism of modulation of the voltage-gated skeletal and cardiac muscle sodium channels by fatty acids

2. Serine-1321-independent regulation of the mu 1 adult skeletal muscle Na+ channel by protein kinase C.

3. Phenotype variation and newcomers in ion channel disorders

4. Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

5. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

Cited by 40 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. Sodium channelopathies of skeletal muscle and brain;Physiological Reviews;2021-10-01

2. Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review;Journal of Neuromuscular Diseases;2020-03-20

3. Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation;Channels;2019-01-01

4. Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4;Scientific Reports;2018-06-26

5. Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses;Scientific Reports;2018-02-01

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