A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature
Author:
Affiliation:
1. Department of NeurologyJohns Hopkins University School of Medicine Baltimore Maryland USA
Publisher
Wiley
Subject
Neurology (clinical),General Neuroscience
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jns.12395
Reference54 articles.
1. Charcot–Marie–Tooth disease and related disorders: an evolving landscape
2. THE CLINICAL FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPES I AND II
3. Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience
4. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
5. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2
Cited by 5 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 Charcot-Marie-Tooth-Causing Mutation in HSPB1 Decreases Cell Adaptation to Repeated Stress by Disrupting Autophagic Clearance of Misfolded Proteins;Cells;2022-09-15
2. Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy;BMC Medical Genomics;2022-04-18
3. At elevated temperatures, heat shock protein genes show altered ratios of different RNAs and expression of new RNAs, including several novel HSPB1 mRNAs encoding HSP27 protein isoforms;Experimental and Therapeutic Medicine;2021-06-24
4. Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population;Annals of Clinical and Translational Neurology;2021-05-11
5. Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations;Annals of Clinical and Translational Neurology;2021-05
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