中国肌萎缩侧索硬化症患者该基因的突变筛查 - Suppr

Mutation screening of the gene in Chinese patients with amyotrophic lateral sclerosis.

作者信息

Gu XiaoJing, Li ChunYu, Chen YongPing, Wei QianQian, Cao Bei, Ou RuWei, Yuan XiaoQin, Hou YanBing, Zhang LingYu, Liu Hui, Wu Ying, Song Wei, Zhao Bi, Chen XuePing, Shang Hui-Fang

机构信息

Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.

Department of Neurology, West China Hospital, Sichuan University, Chengdu, China

出版信息

J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):245-246. doi: 10.1136/jnnp-2018-318395. Epub 2018 Jun 28.

DOI:10.1136/jnnp-2018-318395

PMID:29954873

Abstract

摘要

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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.

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.

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.

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.

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.

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.

Mutation spectrum of Chinese patients with familial and sporadic amyotrophic lateral sclerosis.中国家族性和散发性肌萎缩侧索硬化症患者的突变谱

J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1272-1274. doi: 10.1136/jnnp-2016-313337. Epub 2016 Jun 16.

The G41D mutation in the superoxide dismutase 1 gene is associated with slow motor neuron progression and mild cognitive impairment in a Chinese family with amyotrophic lateral sclerosis.在中国一个肌萎缩侧索硬化症家系中，超氧化物歧化酶1基因的G41D突变与运动神经元进展缓慢及轻度认知障碍相关。

J Neurol Neurosurg Psychiatry. 2016 Jul;87(7):788-9. doi: 10.1136/jnnp-2015-310545. Epub 2015 Jun 10.

Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred.在一个肌萎缩侧索硬化症-额颞叶痴呆家系中鉴定出一种致病性内含子KIF5A突变。

Neurology. 2020 Dec 1;95(22):1015-1018. doi: 10.1212/WNL.0000000000011064. Epub 2020 Oct 19.

Screening for mutations in a large Chinese cohort of patients with ALS: re-evaluating the pathogenesis of in ALS.对一大群中国肌萎缩侧索硬化症患者进行突变筛查：重新评估肌萎缩侧索硬化症的发病机制。

J Neurol Neurosurg Psychiatry. 2018 Dec;89(12):1350-1352. doi: 10.1136/jnnp-2017-317560. Epub 2018 Mar 14.

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Front Neurosci. 2024 Nov 26;18:1499025. doi: 10.3389/fnins.2024.1499025. eCollection 2024.

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.

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.

Genes (Basel). 2024 May 24;15(6):680. doi: 10.3390/genes15060680.

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.

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Mutation screening of the gene in Chinese patients with amyotrophic lateral sclerosis.

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