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CORC

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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
Lipophagy in nonliver tissues and some related diseases: Pathogenic and therapeutic implications 期刊论文
Journal of Cellular Physiology, 2019, 卷号: 234, 期号: 6, 页码: 7938-7947
作者:  Zhou, Kebing;  Yao, Pingbo;  He, Jun;  Zhao, Hong*
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/27
Neutral lipid storage disease with myopathy: clinical and genetic spectrum in a large cohort of Chinese patients 会议论文
作者:  Zhang, C.;  Yuan, Y.;  Yan, C.;  Zhao, C.;  Hu, J.
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05
Neutral lipid storage disease with myopathy: clinical and genetic spectrum in a large cohort of Chinese patients 会议论文
23rd International Annual Congress of the World-Muscle-Society (WMS), OCT 02-06, 2018
作者:  Yuan, Y.;  Yan, C.;  Zhao, C.;  Hu, J.;  Zhang, C.
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/31
A Novel TK2 Gene Mutation Causes Mitochondrial DNA Depletion Syndrome with Fetal Early-Onset Lipid Storage Myopathy 会议论文
作者:  Duoling Li;  Honghao Li;  Bing Wen;  Jingli Shan;  Kunqian Ji
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/31
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy 期刊论文
Journal of human genetics, 2012, 卷号: 57, 期号: 10, 页码: 679-681
作者:  Lin,P.;  Li,W.;  Wen,B.;  Zhao,Y.;  Fenster,D.S.
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/23
Splicing mutations in PNPLA2 gene cause neutral lipid storage disease with asymmetric myopathy with rimmed vacuoles 会议论文
15th International Congress of the World-Muscle-Society, OCT 12-16, 2010
作者:  Yan, C.;  Li, W.;  Zhao, Y.;  Dai, T.;  Wen, B.
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/31
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. 期刊论文
Journal of Neurology, Neurosurgery and Psychiatry, 2010, 卷号: 81, 期号: 2, 页码: 231-236
作者:  Wen B;  Dai T;  Li
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/26
Riboflavin responsive lipid storage myopathy caused by ETFDH gene mutations 会议论文
19th World Congress of Neurology, OCT 24-30, 2009
作者:  Yan, C.;  Wen, B.;  Dai, T.;  Li, W.;  Zhao, Y.
收藏  |  浏览/下载：1/0  |  提交时间：2019/12/31

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