QQ客服 官方微博 反馈留言

浏览/检索结果: 共5条，第1-5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 Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review 期刊论文 ORPHANET JOURNAL OF RARE DISEASES, 2019, 卷号: 14 作者:  Peng, Fang;  Sun, Yi-Min;  Quan, Chao;  Wang, Jian;  Wu, Jian-Jun 收藏  |  浏览/下载：9/0  |  提交时间：2019/12/05 Hereditary spastic paraplegias (HSP)  Spastic paraplegia 76(SPG76)  CAPN1 mutations  Ataxia   Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China 期刊论文 MOLECULAR NEURODEGENERATION, 2018, 卷号: 13 作者:  Dong, En-Lin;  Wang, Chong;  Wu, Shuang;  Lu, Ying-Qian;  Lin, Xiao-Hong 收藏  |  浏览/下载：9/0  |  提交时间：2019/12/05 Hereditary spastic paraplegias  Clinical features  Mutational spectrum  Heterogeneity  Founder effect  Mitochondria  Autolysosomes   Whole exome sequencing identifies a novel SPG4 mutation in a Chinese family with hereditary spastic paraplegias 期刊论文 INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, 2016, 卷号: 9, 期号: 10, 页码: 10274-10281 作者:  Liu, Shiguo;  Jing, Zhongcui;  Liu, Shien;  Zheng, Xueping;  Wang, Haiyan 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/16 Hereditary spastic paraplegias  SPG4 gene  whole exome sequencing  magnetic resonance imaging   G (p.Ser113Arg) Variant in the Original SPG42 Family">Identification and Functional Analysis of a SLC33A1: c.339T > G (p.Ser113Arg) Variant in the Original SPG42 Family 期刊论文 HUMAN MUTATION, 2015, 卷号: 36, 期号: 2, 页码: 240-249 作者:  Mao, Fei;  Li, Zhaohui;  Zhao, Baoyue;  Lin, Pengfei;  Liu, Pingting 收藏  |  浏览/下载：12/0  |  提交时间：2019/12/17 hereditary spastic paraplegias (HSP)  exome sequencing  SLC33A1  mutation   G (p.Ser113Arg) Variant in the Original SPG42 Family">Identification and Functional Analysis of a SLC33A1: c.339T > G (p.Ser113Arg) Variant in the Original SPG42 Family 期刊论文 Human mutation, 2015, 页码: 240-249 作者:  Mao, Fei;  Li, Zhaohui;  Zhao, Baoyue;  Lin, Pengfei;  Liu, Pingting 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/17 hereditary spastic paraplegias (HSP)  exome sequencing  SLC33A1  mutation