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浏览/检索结果: 共6条，第1-6条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients 期刊论文 EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2018, 卷号: 16, 期号: 2 作者:  Wei, Xiaojing;  Su, Feifei;  Miao, Jing;  Liu, Xuemei;  Yu, Xuefan 收藏  |  浏览/下载：12/0  |  提交时间：2019/12/05 genetic analysis  UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase mutation  quadriceps sparing  muscle atrophy and weakness  muscle biopsy  rimmed vacuoles   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 Distal myopathy with rimmed vacuoles  Hereditary inclusion body myopathy  RNA  Splice   Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles 期刊论文 NEUROREPORT, 2015, 卷号: 26, 期号: 10 作者:  Liu, Nan;  Wang, Zhong-Kun;  Wang, Hai-Xia;  Li, Yan;  Niu, Zhen-Hua 收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05 distal myopathy  GNE  rimmed vacuoles   Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. 期刊论文 Journal of human genetics, 2011, 卷号: 56, 期号: 4, 页码: 335-338 作者:  Li H;  Chen Q;  Liu F;  Zhang X;  Liu T 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/23 Chinese  distal myopathy with rimmed vacuoles  GNE  hereditary inclusion  body myopathy   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 Apoptotic muscle fiber degeneration in distal myopathy with rimmed vacuoles 期刊论文 ACTA NEUROPATHOLOGICA, 2001, 卷号: 101, 期号: 1, 页码: 9-16 作者:  Yan, CZ;  Ikezoe, K;  Nonaka, I 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/14 distal myopathy with rimmed vacuoles  myofibrillar degeneration  apoptosis  tubulofilamentous nuclear inclusions