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
First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2.
Villafán-Bernal JR et al.
International Journal of Molecular Sciences, 2025
Congenital-onset MLASA2 from a novel YARS2 variant: A literature review.
Eisenkölbl A et al.
Journal of Neuromuscular Diseases, 2025
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
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.
Ardissone A et al.
Jimd Reports, 2015
Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.
Datt M et al.
Bmc Genomics, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW et al.
Jama, 2014
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.
Nakajima J et al.
Journal of Human Genetics, 2014
Pathogenic implications of human mitochondrial aminoacyl-tRNA synthetases.
Schwenzer H et al.
Topics in Current Chemistry, 2014
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
Riley LG et al.
Orphanet Journal of Rare Diseases, 2013
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
Shahni R et al.
American Journal of Medical Genetics. Part A, 2013
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.
Sasarman F et al.
Human Mutation, 2012
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