Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature

(2016) Stella Mazurova et al.   CARDIOLOGY IN THE YOUNG

The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations

(2016) Mio Hamatani et al.   JOURNAL OF HUMAN GENETICS

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

(2016) David S. Lynch et al.   JAMA Neurology

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Novel (ovario) leukodystrophy related to AARS2 mutations

(2014) C. Dallabona et al.   NEUROLOGY

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

(2011) Alexandra Götz et al.   AMERICAN JOURNAL OF HUMAN GENETICS