Associated Papers
Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.
Ambrose A et al.
Orphanet Journal of Rare Diseases, 2024
39533303 (PubMed )
Supplement: 13023_2024_3437_MOESM9_ESM.xlsx › Nuclear
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
37103033 (PubMed )
Supplement: jcdd-10-00154-s001.zip › Table_S1.xlsx › GeneData
Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review.
Murphy S et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2022
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
Hathazi D et al.
The Embo Journal, 2020
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
Broad spectrum of clinical presentation in EARS2 beyond typical "leukoencephalopathy with thalamus and brain stem involvement".
Prasun P et al.
Journal of the Neurological Sciences, 2019
Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo.
McNeill N et al.
Neurology. Genetics, 2017
This variant alters protein function, but is it pathogenic?
Pandolfo M
Neurology. Genetics, 2017
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.
Danhauser K et al.
Metabolic Brain Disease, 2016
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
Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.
Datt M et al.
Bmc Genomics, 2014
Pathogenic implications of human mitochondrial aminoacyl-tRNA synthetases.
Schwenzer H et al.
Topics in Current Chemistry, 2014
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
Steenweg ME et al.
Brain : a Journal of Neurology, 2012
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