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4 articles related to "Alanyl Trna Synthetase"

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Articles

Original Research

Published on 17 Dec 2019

Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies

in Neurogenetics

Xingao Wang
Qun Wang
Hefei Tang
Bin Chen
Xiang Dong
Songtao Niu
Shaowu Li
Yuzhi Shi
Wei Shan
Zaiqiang Zhang

Frontiers in Neurology

doi 10.3389/fneur.2019.01321

5,687 views
12 citations

Original Research

Published on 06 Feb 2015

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

in Genetics of Common and Rare Diseases

Liliya Euro
Svetlana Konovalova
Jorge Asin-Cayuela
Már Tulinius
Helen Griffin
Rita Horvath
Robert W. Taylor
Patrick F. Chinnery
Ulrike Schara
David R. Thorburn

Frontiers in Genetics

doi 10.3389/fgene.2015.00021

12,135 views
58 citations

Case Report

Published on 15 Apr 2024

AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings

in Neurogenetics

Vanessa I. Romero
Samantha Sáenz
Benjamín Arias-Almeida
Daniela DiCapua
Kazuyoshi Hosomichi

Frontiers in Neurology

doi 10.3389/fneur.2024.1376643

3,738 views
1 citation

Case Report

Published on 13 Jul 2022

Case Report: Early-Onset Charcot-Marie-Tooth 2N With Reversible White Matter Lesions Repeatedly Mimicked Stroke or Encephalitis

in Pediatric Neurology

Huasheng Huang
Yu Zhang
Mingxiu Yang
Baorong Lian
Rui Guo
Liming Cao

Frontiers in Pediatrics

doi 10.3389/fped.2022.935721

6,128 views
4 citations