Associated Papers
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
41141493 (PubMed )
Supplement: mmc1.pdf
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
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 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
Novel AARS2 gene mutation producing leukodystrophy: a case report.
Szpisjak L et al.
Journal of Human Genetics, 2017
The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.
Hamatani M et al.
Journal of Human Genetics, 2016
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