CORC

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CORC

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A novel p.Va137A1a mutation in the GJB1 gene of a Chinese family with X-linked recessive Charcot-Marie-Tooth disease: a case report and literature review 期刊论文
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, 2019, 卷号: 12, 期号: 9
作者:  Sun, Yan;  Sun, Qingwen;  Lin, Yongzhong;  Liu, Ying;  Zhang, Pei
收藏  |  浏览/下载：18/0  |  提交时间：2019/12/05
A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms 期刊论文
FRONTIERS IN NEUROLOGY, 2019, 卷号: 10
作者:  Luo, Si;  Jin, Hui;  Chen, Jiajun;  Zhang, Lei
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05
Generation of a human Charcot-Marie-Tooth disease type 1B iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ. 期刊论文
Stem cell research, 2019, 卷号: Vol.35, 页码: 101407
作者:  Jiake Xu;  Yanpeng Wang;  Jing He;  Weichun Xia;  Yan Zou
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/17
A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease 期刊论文
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2018, 卷号: 23, 期号: 1, 页码: 55-59
作者:  Zhao, Guohua;  Song, Jie;  Yang, Mi;  Song, Xiuhua;  Liu, Xiaomin
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/11
Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2 期刊论文
NEURODEGENERATIVE DISEASES, 2018, 卷号: 18, 期号: 2-3, 页码: 74-83
作者:  Bian, Xianli;  Lin, Pengfei;  Li, Jiangxia;  Long, Feng;  Duan, Ruonan
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/11
A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease 期刊论文
CHINESE MEDICAL JOURNAL, 2017, 卷号: 130, 期号: 15
作者:  Li, Li-Xi;  Dong, Hai-Lin;  Xiao, Bao-Guo;  Wu, Zhi-Ying
收藏  |  浏览/下载：13/0  |  提交时间：2019/12/05
Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D 期刊论文
HUMAN MUTATION, 2017, 卷号: 38, 期号: 11
作者:  Li, Li-Xi;  Liu, Gong-Lu;  Liu, Zhi-Jun;  Lu, Cong;  Wu, Zhi-Ying
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05
Multiple sites Ultrasonography of Peripheral nerves in Differentiating charcot-Marie-Tooth Type 1A from chronic inflammatory Demyelinating Polyradiculoneuropathy 期刊论文
2017, 卷号: 8, 页码: 181
作者:  Niu Jingwen;  Cui Liying;  Liu Mingsheng
收藏  |  浏览/下载：5/0  |  提交时间：2020/01/04
进行性四肢麻木无力4年 期刊论文
2017, 卷号: 17, 期号: 1, 页码: 74-78
作者:  徐银燕;  张江涛;  牛婧雯;  倪俊;  崔丽英
收藏  |  浏览/下载：9/0  |  提交时间：2020/01/04
CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction 期刊论文
NEUROLOGICAL SCIENCES, 2016, 卷号: 37, 期号: 7
作者:  Xie, Chong;  Zhou, Xiajun;  Zhu, Desheng;  Liu, Wei;  Wang, Xiaoqing
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/05

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