Disease: Myopathy with lactic acidosis and sideroblastic anemia
- <em>YARS2</em> Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality
- A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations
- A framework for application of metabolic modeling in yeast to predict the effects of nsSNV in human orthologs
- A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation
- A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2
- A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature
- A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia
- A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia
- A Novel PUS1 Mutation in 2 Siblings with MLASA Syndrome: A Review of the Literature
- A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder
- Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
- Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy
- Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants
- Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth
- Familial association of metabolic myopathy, lactic acidosis and sideroblastic anemia
- Hematological manifestations of primary mitochondrial disorders
- Hereditary myopathies associated with hematological abnormalities
- Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia
- Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease
- Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene
- Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene
- Morphologic features of normoblasts in a case of myopathy, lactic acidosis, and sideroblastic anemia
- Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency
- Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome
- Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up
- Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome
- Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
- Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
- Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia
- Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations
- Renal manifestations of primary mitochondrial disorders
- Sideroblastic anemia associated with multisystem mitochondrial disorders
- The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy
- The phenotypic spectrum of germline <em>YARS2</em> variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
- Two Novel Variants in <em>YARS2</em> Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency
- Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood
- Whole-Exome Sequencing Identifies Small Mutations in Pakistani Muscular Dystrophy Patients