Central core disease due to recessive mutations inRYR1 gene: Is it more common than described?-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Central core disease due to recessive mutations inRYR1 gene: Is it more common than described?

Published:2007 Issue:5 Volume:35 Page:670-674
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Kossugue Patrícia M.,Paim Júlia F.,Navarro Monica M.,Silva Helga C.,Pavanello Rita C. M.,Gurgel-Giannetti Juliana,Zatz Mayana,Vainzof Mariz

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Reference23 articles.

1. A follow-up study of congenital non-progressive myopathies

2. Stabilization of calcium release channel (ryanodine receptor) function by FK506-binding protein

3. Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

4. Muscle biopsy: a practical approach, 2nd ed. London: Bailliere Tindall, 1985.

5. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

Cited by 41 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. How would a completely homogeneous malignant hyperthermia susceptible sample be?;Brazilian Journal of Anesthesiology (English Edition);2023-10

2. Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study;Brazilian Journal of Anesthesiology (English Edition);2023-03

3. Malignant hyperthermia: new knowledge changing perspectives;Brazilian Journal of Anesthesiology (English Edition);2023-03

4. Distal myopathy;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023

5. Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms;Genes;2022-04-26

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