Associated Papers
Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.
Ni M et al.
Journal of Inherited Metabolic Disease, 2021
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.
Barbosa-Gouveia S et al.
Genes, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.
Oliveira R et al.
Jimd Reports, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW et al.
Jama, 2014
Pathogenic implications of human mitochondrial aminoacyl-tRNA synthetases.
Schwenzer H et al.
Topics in Current Chemistry, 2014
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.
Diodato D et al.
International Journal of Cell Biology, 2014
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.
Talim B et al.
Brain : a Journal of Neurology, 2013
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