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Idiopathic inflammatory myopathies with anti-mitochondrial antibodies: Clinical features and treatment outcomes in a Chinese cohort 期刊论文
NEUROMUSCULAR DISORDERS, 2019, 卷号: 29, 期号: 1, 页码: 5-13
作者:  Hou, Ying;  Liu, Meirong;  Luo, Yue-Bei;  Sun, Yuan;  Shao, Kai
收藏  |  浏览/下载：24/0  |  提交时间：2019/12/11
Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review. 期刊论文
Neuromuscular disorders : NMD, 2019, 卷号: 29, 期号: 4
作者:  Tian Wo-Tu;  Luan Xing-Hua;  Zhou Hai-Yan;  Zhang Chao;  Huang Xiao-Jun
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/06
SCN4A mutation causes episodic myotonia and persistent paralysis with internalized blood vessels in skeletal muscle 会议论文
24th International Annual Congress of the World-Muscle-Society (WMS), OCT 01-05, 2019
作者:  Zheng, J.;  Wang, Q.;  Zhang, S.;  Zhao, Y.;  Li, W.
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/31
Isolated mitochondrial myopathy is common presentation in A3243G-related mitochondrial diseases 会议论文
24th International Annual Congress of the World-Muscle-Society (WMS), OCT 01-05, 2019
作者:  Ji, K.;  Yan, C.
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/31
The mutations in mtDNA encoded NADH dehydrogenase subunit genes as common causes of MELAS 会议论文
24th International Annual Congress of the World-Muscle-Society (WMS), OCT 01-05, 2019
作者:  Ji, K.;  Yan, C.
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/31
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
GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing 期刊论文
NEUROMUSCULAR DISORDERS, 2018, 卷号: 28, 期号: 2
作者:  Zhu, Wenhua;  Eto, Masaki;  Mitsuhashi, Satomi;  Takata, Kazushiro;  Beck, Goichi
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/05
Exertional myalgia, contractures and annular erythema in a patient with muscle lactate dehydrogenase (LDH) deficiency 期刊论文
NEUROMUSCULAR DISORDERS, 2018, 卷号: 28, 期号: 1
作者:  Yue, Dongyue;  Zhu, Wenhua;  Zhao, Chongbo
收藏  |  浏览/下载：27/0  |  提交时间：2019/12/05
GNE myopathy in Chinese population: hotspot and novel mutations 会议论文
作者:  Chen, Y.;  Xi, J.;  Zhu, W.;  Lin, J.;  Luo, S.
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/05
Human Umbilical Cord Wharton's Jelly Derived Mesenchymal Stromal Cells May Attenuate Sarcopenia in Aged Mice Induced by Hindlimb Suspension 期刊论文
MEDICAL SCIENCE MONITOR, 2018, 卷号: 24, 页码: 9272-9281
作者:  Wang, Quan-Quan;  Jing, Xiao-Ma;  Bi, Yan-Zhen;  Cao, Xiao-Fu;  Wang, Yu-Zhong
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11

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