Associated Papers
AARS2-Related Leukodystrophy: a Case Report and Literature Review.
Zhang X et al.
Cerebellum (london, England), 2023
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9
Multi-omics characterization of molecular features of gastric cancer correlated with response to neoadjuvant chemotherapy.
Li Z et al.
Science Advances, 2020
32133402 (PubMed )
Supplement: aay4211_Table_S2.xlsx › SomaticMutations
A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord.
Song C et al.
Journal of Human Genetics, 2019
A homozygous mutation of alanyl-transfer RNA synthetase 2 in a patient of adult-onset leukodystrophy: A case report and literature review.
Wang JY et al.
Brain and Behavior, 2019
AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.
Tang Y et al.
Molecular Genetics & Genomic Medicine, 2019
Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies.
Wang X et al.
Frontiers in Neurology, 2019
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.
Taglia I et al.
Acta Neurologica Scandinavica, 2018
An adolescence-onset male leukoencephalopathy with remarkable cerebellar atrophy and novel compound heterozygous AARS2 gene mutations: a case report.
Dong Q et al.
Journal of Human Genetics, 2018
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Kamps R et al.
European Journal of Human Genetics : Ejhg, 2018
Novel AARS2 gene mutation producing leukodystrophy: a case report.
Szpisjak L et al.
Journal of Human Genetics, 2017
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
Euro L et al.
Frontiers in Genetics, 2015
Novel (ovario) leukodystrophy related to AARS2 mutations.
Dallabona C et al.
Neurology, 2014
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Kerr M et al.
Molecular Genetics and Metabolism, 0
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