Associated Papers
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.
Mazzaccara C et al.
International Journal of Molecular Sciences, 2021
Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy.
Yang JO et al.
Frontiers in Cardiovascular Medicine, 2021
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.
Perli E et al.
Scientific Reports, 2019
Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.
Emperador S et al.
European Journal of Human Genetics : Ejhg, 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
Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.
Ahola S et al.
Neurology, 2014
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.
Shamseldin HE et al.
Journal of Medical Genetics, 2012
Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.
Vedrenne V et al.
Journal of Hepatology, 2012
Infantile-onset disorders of mitochondrial replication and protein synthesis.
Nogueira C et al.
Journal of Child Neurology, 2011
Analysis of the functional consequences of lethal mutations in mitochondrial translational elongation factors.
Akama K et al.
Biochimica Et Biophysica Acta, 0
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