Associated Papers
The genomic mosaic of mitochondrial dysfunction: Decoding nuclear and mitochondrial epigenetic contributions to maternally inherited diabetes and deafness pathogenesis.
Donato L et al.
Heliyon, 2024
Next-generation sequencing of the whole mitochondrial genome identifies functionally deleterious mutations in patients with multiple sclerosis.
Al-Kafaji G et al.
Plos One, 2022
Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination.
Morshneva A et al.
Genes, 2021
Analysis of secondary mtDNA mutations in families with Leber's hereditary optic neuropathy: Four novel variants and their association with clinical presentation.
Jancic J et al.
Mitochondrion, 2020
Analysis of Mitochondrial DNA Polymorphisms in the Human Cell Lines HepaRG and SJCRH30.
Young MJ et al.
International Journal of Molecular Sciences, 2019
Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review).
Jiménez-Morales S et al.
International Journal of Oncology, 2018
Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumors.
Kurtz A et al.
Molecular Cancer Research : Mcr, 2004
Genotypes from patients indicate no paternal mitochondrial DNA contribution.
Taylor RW et al.
Annals of Neurology, 2003
Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy.
Fabrizi GM et al.
Journal of Neurology, 1995
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