Mutations inZASP define a novel form of muscular dystrophy in humans
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Reference29 articles.
1. Myofibrillar myopathy
2. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
3. Missense mutations in desmin associated with familial cardiac and skeletal myopathy
4. A dysfunctional desmin mutation in a patient with severe generalized myopathy
5. A Missense Mutation in the Desmin Rod Domain Is Associated with Autosomal Dominant Distal Myopathy, and Exerts a Dominant Negative Effect on Filament Formation
Cited by 224 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. A rare form of LIM domain‐binding protein 3 (LDB3) mutation causes hypertrophic cardiomyopathy and myofibrillar myopathy type 4;Clinical Genetics;2024-07-11
2. Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy;International Journal of Molecular Sciences;2024-06-14
3. Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems;Cells;2023-05-05
4. Expression of LIM domain-binding 3 (LDB3), a striated muscle Z-band alternatively spliced PDZ-motif protein in the nervous system;Scientific Reports;2023-01-06
5. Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related;Journal of Neuromuscular Diseases;2023-01-03
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