Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference41 articles.
1. X-linked hereditary motor sensory neuropathy type 1 (CMTX1) in a three-generation Gelao Chinese family;Shu;Neuropediatrics,2015
2. Transient white matter lesions in X-linked Charcot-Marie-Tooth disease type 1 with novel I20T mutation of gap junction protein beta 1 gene (in Chinese);Luan;Chin J Neurol,2009
3. CNS involvement in CMTX1 caused by a novel connexin 32 mutation: A 6-year follow-up in neuroimaging and nerve conduction;Xie;Neurol Sci,2016
4. A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32;Sargiannidou;Neurogenetics,2015
5. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): A clinicopathological study of 205 Japanese patients;Hattori;Brain,2003
Cited by 22 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. X-linked Charcot Marie Tooth mutations alter CO2 sensitivity of connexin32 hemichannels;Frontiers in Cellular Neuroscience;2023-12-21
2. Corrigendum: Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease;Frontiers in Neuroscience;2023-09-12
3. Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy;Molecular Therapy - Methods & Clinical Development;2023-09
4. Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease;European Journal of Neurology;2023-07-05
5. Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants;Brain;2023-06-07
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