CORC

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CORC

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Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing 期刊论文
BMC NEUROLOGY, 2019, 卷号: 19
作者:  Dou, Tonghai;  Luo, Sushan;  Xu, Minjie;  Sun, Jian;  Qiao, Kai
收藏  |  浏览/下载：23/0  |  提交时间：2019/12/05
Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis 期刊论文
CLINICAL NEUROPATHOLOGY, 2019, 卷号: 38, 期号: 3
作者:  Ding, Man;  Wang, Xi;  Zeng, Yanping;  Lu, Zuneng;  Cai, Shuang
收藏  |  浏览/下载：36/0  |  提交时间：2019/12/05
GNE myopathy in Chinese population: hotspot and novel mutations (vol 64, pg 11, 2018) 期刊论文
JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 3
作者:  Chen, Yang;  Xi, Jianying;  Zhu, Wenhua;  Lin, Jie;  Luo, Sushan
收藏  |  浏览/下载：25/0  |  提交时间：2019/12/05
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes 期刊论文
NEUROLOGY-GENETICS, 2019, 卷号: 5, 期号: 2
作者:  Sun, Chong;  Song, Jie;  Jiang, Yanjun;  Zhao, Chongbo;  Lu, Jiahong
收藏  |  浏览/下载：29/0  |  提交时间：2019/12/05
GNE myopathy in Chinese population: hotspot and novel mutations 期刊论文
JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 1
作者:  Chen, Yang;  Xi, Jianying;  Zhu, Wenhua;  Li, Jie;  Luo, Sushan
收藏  |  浏览/下载：27/0  |  提交时间：2019/12/05
HLA in myasthenia gravis: From superficial correlation to underlying mechanism 期刊论文
AUTOIMMUNITY REVIEWS, 2019, 卷号: 18, 期号: 9
作者:  Zhong, Huahua;  Zhao, Chongbo;  Luo, Sushan
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/05
Effect of low-dose rituximab treatment on T- and B-cell lymphocyte imbalance in refractory myasthenia gravis 期刊论文
JOURNAL OF NEUROIMMUNOLOGY, 2019, 卷号: 332
作者:  Jing, Sisi;  Lu, Jun;  Song, Jie;  Luo, Sushan;  Zhou, Lei
收藏  |  浏览/下载：16/0  |  提交时间：2019/12/05
Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis 期刊论文
CLINICAL NEUROPATHOLOGY, 2019, 卷号: 38, 期号: 3
作者:  Ding, Man;  Wang, Xi;  Zeng, Yanping;  Lu, Zuneng;  Cai, Shuang
收藏  |  浏览/下载：24/0  |  提交时间：2019/12/05
Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in Na(v)1.4 期刊论文
SCIENTIFIC REPORTS, 2018, 卷号: 8
作者:  Luo, Sushan;  Castaneda, Marisol Sampedro;  Matthews, Emma;  Sud, Richa;  Hanna, Michael G.
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb-girdle muscular dystrophy type 2A by muscle magnetic resonance imaging 期刊论文
MUSCLE & NERVE, 2018, 卷号: 58, 期号: 4
作者:  Feng, Xuelin;  Luo, Sushan;  Li, Jing;  Yue, Dongyue;  Xi, Jianying
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/05

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