A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot‐Marie‐Tooth disease 2-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot‐Marie‐Tooth disease 2

Published:2020-07-14 Issue:9 Volume:10 Page:
ISSN:2162-3279
Container-title:Brain and Behavior
language:en
Short-container-title:Brain Behav

Author:

Wu Ding‐Wen¹²,Li Yanfang³^ORCID,Yin Xinzhen⁴^ORCID,Zhang Baorong⁴^ORCID

Affiliation:

1. Department of Genetics and Metabolism, Children’s Hospital Zhejiang University School of Medicine Hangzhou China

2. Key Laboratory of Diagnosis and Treatment of Neonatal Diseases of Zhejiang Province Hangzhou China

3. Department of Pediatrics, Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China

4. Department of Neurology, Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China

Funder

Zhejiang analytical testing technology program

Publisher

Wiley

Subject

Behavioral Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/brb3.1724

Reference20 articles.

1. HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry

2. Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review

3. Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

4. Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation

5. R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome

Cited by 2 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. TFG mutation induces haploinsufficiency and drives axonal Charcot–Marie–Tooth disease by causing neurite degeneration;CNS Neuroscience & Therapeutics;2022-08-19

2. Case Report: Early-Onset Charcot-Marie-Tooth 2N With Reversible White Matter Lesions Repeatedly Mimicked Stroke or Encephalitis;Frontiers in Pediatrics;2022-07-13

同舟云学术

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