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
Whole mitochondrial genome sequencing in individuals with Leber hereditary optic neuropathy negative for the common pathogenic mitochondrial DNA variants.
Srilekha S et al.
Frontiers in Neurology, 2025
Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism.
Wang Y et al.
Nature Communications, 2022
Whole Mitochondrial Genome Analysis in Turkish Patients with Mitochondrial Diseases
Gencer Öncül EB et al.
Balkan Medical Journal, 2022
An A10398G mitochondrial DNA alteration is related to increased risk of breast cancer, and associates with Her2 positive receptor.
Jahani MM et al.
Mitochondrial Dna. Part A, Dna Mapping, Sequencing, and Analysis, 2020
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
Site-specific selection reveals selective constraints and functionality of tumor somatic mtDNA mutations.
Li D et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2017
Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease.
Levin L et al.
Genome Biology and Evolution, 2013
Mitochondrial DNA analysis in primary congenital glaucoma.
Tanwar M et al.
Molecular Vision, 2010
Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation.
Qu J et al.
Biochimica Et Biophysica Acta, 2010
MtDNA mutation associated with mitochondrial dysfunction in megakaryoblastic leukaemic cells.
Piccoli C et al.
Leukemia, 2008
Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlys.
Gambello MJ et al.
Muscle & Nerve, 2006
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.
Valentino ML et al.
Annals of Neurology, 2004
[Detection of mtDNA 11778 (G-->A) point mutation in a family with Leber's hereditary optic neuropathy by site-specific polymerase chain reaction].
Niu SL et al.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae, 2003
Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy.
Sudoyo H et al.
Journal of Human Genetics, 2002
Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders.
Sternberg D et al.
Human Molecular Genetics, 1998