DNAJB6 myopathy: A vacuolar myopathy with childhood onset
Author:
Affiliation:
1. Medical School; Department of Neurology; Mayo Clinic Foundation, 200 First Street SW; Rochester Minnesota 55905 USA
2. Universidad de Antioquia; Medellin Colombia
3. Prevention Genetics; Marshfield; Wisconsin USA
Publisher
Wiley
Subject
Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology
Reference14 articles.
1. Update on the genetics of limb girdle muscular dystrophy;Mitsuhashi;Semin Pediatr Neurol,2012
2. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy;Sarparanta;Nature Genet,2012
3. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy;Harms;Ann Neurol,2012
4. Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7;Speer;Am J Hum Genet,1999
5. The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy;Sandell;J Neurol Neurosurg Psychiatry,2010
Cited by 21 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. DNAJB6 mutants display toxic gain of function through unregulated interaction with Hsp70 chaperones;Nature Communications;2023-11-03
2. Autosomal Dominant Limb-Girdle Muscular Dystrophies;Current Clinical Neurology;2023
3. Myopathies with Myofibrillar Pathology;Current Clinical Neurology;2023
4. Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal–Distal Myopathy in a Chinese Patient;Frontiers in Genetics;2022-06-23
5. Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results;International Journal of Molecular Sciences;2020-02-19
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