MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients

Published:2016-03 Issue:1 Volume:21 Page:38-44
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Xie Yongzhi¹,Li Xiaobo¹,Liu Lei¹,Hu Zhengmao²,Huang Shunxiang¹,Zhan Yajin¹,Zi Xiaohong¹,Xia Kun²,Tang Beisha²,Zhang Ruxu¹

Affiliation:

1. Department of Neurology; the Third Xiangya Hospital; Changsha China

2. National Key Lab of Medical Genetics; Central South University; Changsha China

Funder

Fundamental Research Funds for the Central Universities of Central South University

Hunan Provincial Natural Science Foundation of China

High Level Health Personnel “225” Training Project of Hunan Province

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jns.12159/fullpdf

Reference20 articles.

1. Mutation Analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease;Bergamin;Neuromolecular Med,2014

2. Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features;Bombelli;JAMA Neurol,2014

3. Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations;Calvo;Arch Neurol,2009

4. Phenotypic spectrum of MFN2 mutations in the Spanish population;Casasnovas;J Med Genet,2010

5. Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development;Chen;J Cell Biol,2003

Cited by 20 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. The MFN2 Q367H variant from a patient with late-onset distal myopathy reveals a novel pathomechanism connected to mtDNA-mediated inflammation;2024-06-21

2. Ethnicity‐related differences in mitochondrial regulation by insulin stimulation in diabetes;Journal of Cellular Physiology;2024-05-22

3. An integrative analysis of genotype-phenotype correlation in Charcot Marie Tooth type 2A disease with MFN2 variants: A case and systematic review;Gene;2023-10

4. Mitochondria Clumping vs. Mitochondria Fusion in CMT2A Diseases;Life;2022-12-15

5. Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts;Human Molecular Genetics;2022-08-22

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