TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations
Author:
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://www.jci.org/articles/view/97103/files/pdf
Reference51 articles.
1. SQSTM1splice site mutation in distal myopathy with rimmed vacuoles
2. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
3. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
4. Multisystem proteinopathy: Table
5. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
Cited by 78 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. Defining the landscape of TIA1 and SQSTM1 digenic myopathy;Neuromuscular Disorders;2024-09
2. Diverse Phenotypic Presentation of the Welander Distal Myopathy Founder Mutation, With Myopathy and Amyotrophic Lateral Sclerosis in the Same Family;Journal of Clinical Neuromuscular Disease;2024-09
3. Valosin-Containing Protein (VCP): A Review of Its Diverse Molecular Functions and Clinical Phenotypes;International Journal of Molecular Sciences;2024-05-22
4. Seeding competent TDP-43 persists in human patient and mouse muscle;2024-04-04
5. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy;Nature Genetics;2024-03
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