CORC

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CORC

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Idiopathic inflammatory myopathy comorbid with Sturge-Weber syndrome: a case report 期刊论文
BMC NEUROLOGY, 2019, 卷号: 19
作者:  Deng, Li;  Wang, Dongmei;  Ruan, Ni;  Fu, Ping
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/04
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
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
Acute Respiratory Failure Is the Initial Manifestation in the Adult-Onset A3243G tRNALeu mtDNA Mutation: A Case Report and the Literature Review 期刊论文
FRONTIERS IN NEUROLOGY, 2019, 卷号: 10
作者:  Pan, Xiaoli;  Wang, Lijun;  Fei, Guoqiang;  Dong, Jihong;  Zhong, Chunjiu
收藏  |  浏览/下载：37/0  |  提交时间：2019/12/05
ABCC9-related Intellectual disability Myopathy Syndrome is a K-ATP channelopathy with loss-of-function mutations in ABCC9 期刊论文
NATURE COMMUNICATIONS, 2019, 卷号: 10
作者:  Smeland, Marie F.;  McClenaghan, Conor;  Roessler, Helen I.;  Savelberg, Sanne;  Hansen, Geir Asmund Myge
收藏  |  浏览/下载：4/0  |  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
Telbivudine-Induced Myopathy Incidentally Detected by FDG PET/CT Imaging in a Patient With History of Hepatocellular Carcinoma. 期刊论文
Clinical nuclear medicine, 2019, 卷号: Vol.44 No.2, 页码: 171-172
作者:  Zou Sijuan;  Cheng Zhaoting;  Song Shuang;  Zhu Dongling;  Zhu Xiaohua
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/13
Activated mTOR signaling pathway in myofibers with inherited metabolic defect might be an evidence for mTOR inhibition therapies 期刊论文
CHINESE MEDICAL JOURNAL, 2019, 卷号: 132, 期号: 7, 页码: 805-810
作者:  Lyu, Jing-Wei;  Xu, Xue-Bi;  Ji, Kun-Qian;  Zhang, Na;  Sun, Yuan
收藏  |  浏览/下载：106/0  |  提交时间：2019/12/11
Neutral lipid storage disease with myopathy in China: a large multicentric cohort study 期刊论文
ORPHANET JOURNAL OF RARE DISEASES, 2019, 卷号: 14, 期号: 1
作者:  Zhang, Wei;  Wen, Bing;  Lu, Jun;  Zhao, Yawen;  Hong, Daojun
收藏  |  浏览/下载：27/0  |  提交时间：2019/12/11

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