• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Whole-exome sequencing identified novel KIF5A mutations in Chinese patients with amyotrophic lateral sclerosis and Charcot-Marie-Tooth type 2.

作者信息

He Jing, Liu Xiaoxuan, Tang Lu, Zhao Chen, He Ji, Fan Dongsheng

机构信息

Neurology, Peking University Third Hospital, Beijing, China.

Neurology, Peking University Third Hospital, Beijing, China

出版信息

J Neurol Neurosurg Psychiatry. 2020 Mar;91(3):326-328. doi: 10.1136/jnnp-2019-320483. Epub 2019 Aug 17.

DOI:10.1136/jnnp-2019-320483
PMID:31422367
Abstract
摘要

相似文献

1
Whole-exome sequencing identified novel KIF5A mutations in Chinese patients with amyotrophic lateral sclerosis and Charcot-Marie-Tooth type 2.全外显子组测序在中国肌萎缩侧索硬化症和2型夏科-马里-图斯病患者中鉴定出新型KIF5A突变。
J Neurol Neurosurg Psychiatry. 2020 Mar;91(3):326-328. doi: 10.1136/jnnp-2019-320483. Epub 2019 Aug 17.
2
Mutation screening of the gene in Chinese patients with amyotrophic lateral sclerosis.中国肌萎缩侧索硬化症患者该基因的突变筛查
J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):245-246. doi: 10.1136/jnnp-2018-318395. Epub 2018 Jun 28.
3
Mutation analysis of KIF5A in Chinese amyotrophic lateral sclerosis patients.在中国肌萎缩侧索硬化症患者中 KIF5A 的突变分析。
Neurobiol Aging. 2019 Jan;73:229.e1-229.e4. doi: 10.1016/j.neurobiolaging.2018.08.006. Epub 2018 Aug 9.
4
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.日本肌萎缩侧索硬化症病例系列中 KIF5A 的剪接位点突变。
Neurogenetics. 2021 Mar;22(1):11-17. doi: 10.1007/s10048-020-00626-1. Epub 2020 Aug 19.
5
Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis.日本散发性肌萎缩侧索硬化症患者中 KIF5A 变异体的遗传和功能分析。
Neurobiol Aging. 2021 Jan;97:147.e11-147.e17. doi: 10.1016/j.neurobiolaging.2020.07.010. Epub 2020 Jul 17.
6
Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations.携带KIF5A突变的2型轴索性夏科-马里-图斯病患者的广泛表型谱。
Genes Genomics. 2018 Jan;40(1):77-84. doi: 10.1007/s13258-017-0612-x. Epub 2017 Oct 10.
7
Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of in Chinese Patients with Familial Amyotrophic Lateral Sclerosis.全基因组测序鉴定出中国家族性肌萎缩侧索硬化症患者中 蛋白 N 端结构域的一种新型突变。
Genes (Basel). 2024 May 24;15(6):680. doi: 10.3390/genes15060680.
8
Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.与 KIF5A 相关的神经退行性或神经发育性疾病中的改变的分子和细胞机制。
Cell Death Dis. 2024 Sep 27;15(9):692. doi: 10.1038/s41419-024-07096-5.
9
Expanding the spectrum of mutations-case report of a large kindred with familial ALS and overlapping syndrome.扩大突变谱——一例伴有家族性肌萎缩侧索硬化症及重叠综合征的大家族病例报告
Amyotroph Lateral Scler Frontotemporal Degener. 2023 May;24(3-4):347-350. doi: 10.1080/21678421.2022.2164204. Epub 2023 Jan 5.
10
Hot-spot KIF5A mutations cause familial ALS.热点 KIF5A 突变导致家族性肌萎缩侧索硬化症。
Brain. 2018 Mar 1;141(3):688-697. doi: 10.1093/brain/awx370.

引用本文的文献

1
The ALS-associated KIF5A P986L variant is not pathogenic for Drosophila motoneurons.ALS 相关的 KIF5A P986L 变异体对果蝇运动神经元没有致病性。
Sci Rep. 2024 Aug 22;14(1):19540. doi: 10.1038/s41598-024-70543-y.
2
Genetic link between mutations and amyotrophic lateral sclerosis: evidence from whole-exome sequencing.突变与肌萎缩侧索硬化症之间的遗传联系：来自全外显子组测序的证据
Front Aging Neurosci. 2024 Jul 15;16:1421841. doi: 10.3389/fnagi.2024.1421841. eCollection 2024.
3
Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of in Chinese Patients with Familial Amyotrophic Lateral Sclerosis.
全基因组测序鉴定出中国家族性肌萎缩侧索硬化症患者中 蛋白 N 端结构域的一种新型突变。
Genes (Basel). 2024 May 24;15(6):680. doi: 10.3390/genes15060680.
4
Two Cases of Sporadic Amyotrophic Lateral Sclerosis With Contrasting Clinical Phenotypes: Genetic Insights.两例具有不同临床表型的散发性肌萎缩侧索硬化症：遗传学见解
Cureus. 2024 Mar 12;16(3):e56023. doi: 10.7759/cureus.56023. eCollection 2024 Mar.
5
Current insights in the molecular genetic pathogenesis of amyotrophic lateral sclerosis.肌萎缩侧索硬化症分子遗传发病机制的当前见解
Front Neurosci. 2023 Aug 10;17:1189470. doi: 10.3389/fnins.2023.1189470. eCollection 2023.
6
[Genetic distribution in Chinese patients with hereditary peripheral neuropathy].[中国遗传性周围神经病患者的基因分布]
Beijing Da Xue Xue Bao Yi Xue Ban. 2022 Oct 18;54(5):874-883. doi: 10.19723/j.issn.1671-167X.2022.05.015.
7
ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain-of-function.与肌萎缩侧索硬化症相关的 KIF5A ΔExon27 突变体通过获得性功能引起神经元毒性。
EMBO Rep. 2022 Aug 3;23(8):e54234. doi: 10.15252/embr.202154234. Epub 2022 Jun 23.
8
Multiple roles for the cytoskeleton in ALS.细胞骨架在肌萎缩侧索硬化症中的多种作用。
Exp Neurol. 2022 Sep;355:114143. doi: 10.1016/j.expneurol.2022.114143. Epub 2022 Jun 14.
9
Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia.遗传性痉挛性截瘫中内溶酶体和自噬缺陷的最新认识。
Cells. 2021 Jul 2;10(7):1678. doi: 10.3390/cells10071678.
10
A Systematic Review of Genotype-Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS.对肌萎缩侧索硬化症（ALS）中具有不同基因致病突变的队列的基因型-表型相关性的系统评价。
J Pers Med. 2020 Jun 29;10(3):58. doi: 10.3390/jpm10030058.