Associated Papers
IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.
Dong Q et al.
Orphanet Journal of Rare Diseases, 2024
Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.
Watanabe M et al.
Genes, 2024
Adrenal Dysfunction in Mitochondrial Diseases.
Corkery-Hayward M et al.
International Journal of Molecular Sciences, 2023
Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.
Upadia J et al.
Clinical Case Reports, 2022
IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report.
Gong Y et al.
Frontiers in Pediatrics, 2022
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Barcia G et al.
Haematologica, 2021
pTuneos: prioritizing tumor neoantigens from next-generation sequencing data.
Zhou C et al.
Genome Medicine, 2019
31666118 (PubMed )
Supplement: 13073_2019_679_MOESM11_ESM.xlsx › Table_S10.B
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
Vona B et al.
Bmc Medical Genetics, 2018
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