A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy-Reference-Cited by-同舟云学术

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy

Published:2017-03-22 Issue:5 Volume:140 Page:1252-1266
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Tsai Pei-Chien,Soong Bing-Wen,Mademan Inès,Huang Yen-Hua,Liu Chia-Rung,Hsiao Cheng-Tsung,Wu Hung-Ta,Liu Tze-Tze,Liu Yo-Tsen,Tseng Yen-Ting,Lin Kon-Ping,Yang Ueng-Cheng,Chung Ki Wha,Choi Byung-Ok,Nicholson Garth A.,Kennerson Marina L.,Chan Chih-Chiang,De Jonghe Peter,Cheng Tzu-Hao,Liao Yi-Chu,Züchner Stephan,Baets Jonathan,Lee Yi-Chung

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/140/5/1252/18223687/awx058.pdf

Reference41 articles.

1. An integrated map of genetic variation from 1,092 human genomes;1000 Genomes Project Consortium;Nature,2012

2. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V;Am J Hum Genet,2003

3. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies;Brain,2015

4. A spectrophotometric assay for quantitative measurement of aminoacyl-tRNA synthetase activity;J Biomol Screen,2013

5. Aminoacyl-tRNA synthestases;Curr Opin Struct Biol,1995

Cited by 80 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Insights into phenotypic variability caused by GARS1 pathogenic variants;European Journal of Neurology;2024-07-25

2. Distal hereditary motor neuropathies;Revue Neurologique;2024-05

3. Lack of effect from genetic deletion of Hdac6 in a humanized mouse model of CMT2D;Journal of the Peripheral Nervous System;2024-03-29

4. Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases;Brain Communications;2024

5. Hereditary Motor Neuropathy;Reference Module in Neuroscience and Biobehavioral Psychology;2024