Associated Papers
Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot Mapping.
Villafan-Bernal JR et al.
Current Issues in Molecular Biology, 2026
Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency.
Carreño-Gago L et al.
Journal of Clinical Medicine, 2021
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville EW et al.
Jama Neurology, 2017
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.
Ardissone A et al.
Jimd Reports, 2015
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.
Nakajima J et al.
Journal of Human Genetics, 2014
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