Associated Papers
Amino acid supplementation in patients affected by leukoencephalopathies associated with mitochondrial aminoacyl tRNA synthetase pathogenic variants: Pilot clinical trial in adults and review of literature.
Catania A et al.
Molecular Genetics and Metabolism, 2025
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
AARS2-Related Leukodystrophy: a Case Report and Literature Review.
Zhang X et al.
Cerebellum (london, England), 2023
The emerging neurological spectrum of AARS2-associated disorders.
Parra SP et al.
Parkinsonism & Related Disorders, 2021
Generation of three human induced pluripotent stem cell lines, LUMCi024-A, LUMCi025-A, and LUMCi026-A, from two patients with combined oxidative phosphorylation deficiency 8 and a related control.
van Helden RWJ et al.
Stem Cell Research, 2021
Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy.
Kuo ME et al.
Cerebellum (london, England), 2020
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
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies.
Wang X et al.
Frontiers in Neurology, 2019
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
Premature Ovarian Failure in French Canadian Leigh Syndrome.
Ghaddhab C et al.
The Journal of Pediatrics, 2017
Novel AARS2 gene mutation producing leukodystrophy: a case report.
Szpisjak L et al.
Journal of Human Genetics, 2017
Novel (ovario) leukodystrophy related to AARS2 mutations.
Dallabona C et al.
Neurology, 2014