Associated Papers
Analysis of Selective Pressure on Ancient Human Mitochondrial Genomes Reveals the Presence of Widespread Sequencing Artefacts.
Fernandes P et al.
International Journal of Molecular Sciences, 2025
40869060 (PubMed )
Supplement: ijms-26-07739-s001.zip › ijms-3768908-supplementary.pdf
Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism.
Wang Y et al.
Nature Communications, 2022
35778412 (PubMed )
Supplement: 41467_2022_30805_MOESM3_ESM.xlsx › all_heteroplasmies
Mutational analysis of mitochondrial tRNA genes in 138 patients with Leber's hereditary optic neuropathy.
Shuai J et al.
Irish Journal of Medical Science, 2022
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
Caporali L et al.
Plos Genetics, 2018
29444077 (PubMed )
Supplement: pgen.1007210.s006.docx
Disease-associated mitochondrial mutations and the evolution of primate mitogenomes.
Tavares WC et al.
Plos One, 2017
Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy.
Ji Y et al.
Investigative Ophthalmology & Visual Science, 2016
Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.
Tang S et al.
Human Mutation, 2013
A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions.
Mezghani N et al.
Biochemical and Biophysical Research Communications, 2013
Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease.
Levin L et al.
Genome Biology and Evolution, 2013
23563965 (PubMed )
Supplement: supp_evt058_9868_dataset_Analysis.zip › 9868_dataset_Analysis › Analysis › result.xls.xlsx › ALL__Amino_Chainge
Mitochondrial DNA sequence variation is associated with free-living activity energy expenditure in the elderly.
Tranah GJ et al.
Biochimica Et Biophysica Acta, 2012
Epistatic interactions modulate the evolution of mammalian mitochondrial respiratory complex components.
Azevedo L et al.
Bmc Genomics, 2009
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Saada A et al.
American Journal of Human Genetics, 2009
The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes.
Fernández-Moreno MA et al.
Molecular Genetics and Metabolism, 2000
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