Associated Papers
Mitochondrial Genetics in Cardiovascular Health and Disease: A Scientific Statement From the American Heart Association.
Fetterman JL et al.
Circulation, 2025
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.
Tinker RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinically translatable mitochondrial gene therapy in muscle using tandem mtZFN architecture.
Nash PA et al.
Embo Molecular Medicine, 2025
Mitochondrial DNA-targeted therapy: A novel approach to combat cancer.
Lin Y et al.
Cell Insight, 2023
Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion.
Grigalionienė K et al.
Molecular Genetics & Genomic Medicine, 2023
Mitochondrial Cardiomyopathy: The Roles of mt-tRNA Mutations.
Ding Y et al.
Journal of Clinical Medicine, 2022
[A case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) complicated by chronic intestinal pseudo-obstruction].
Miyanaga R et al.
Rinsho Shinkeigaku = Clinical Neurology, 2022
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.
Wang J et al.
Molecular Genetics and Metabolism, 2022
Deregulated Mitochondrial DNA in Diseases.
Nguyen NNY et al.
Dna and Cell Biology, 2020
Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with hypothyroidism and psychiatric disorders.
Ge YX et al.
Eneurologicalsci, 2017
Mitochondrial Diseases and Cardiomyopathies.
Brunel-Guitton C et al.
The Canadian Journal of Cardiology, 2015
A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.
Rocha MC et al.
Scientific Reports, 2015
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.
Gorman GS et al.
Annals of Neurology, 2015
Extended screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss.
Kato T et al.
Journal of Human Genetics, 2012
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.
Suominen T et al.
European Journal of Human Genetics : Ejhg, 2011
Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.
Nishigaki Y et al.
Mitochondrion, 2010
Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling.
Dobrowolski SF et al.
Human Mutation, 2009
Elevated thyroid peroxidase antibodies with encephalopathy in MELAS syndrome.
Chan DW et al.
Pediatric Neurology, 2007
[Diabetes mellitus associated with the mitochondrial mutation A3243G: frequency and clinical presentation].
Salles JE et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2007
Human mtDNA haplogroups and reduced male fertility: real association or hidden population substructuring.
Pereira L et al.
International Journal of Andrology, 2005
[MELAS-like episodes in an adult case with cytochrome c oxidase deficiency].
Kihira T et al.
Rinsho Shinkeigaku = Clinical Neurology, 2004
[A case of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), showing temporary improvement during the treatment with eicosapentaenoic acid ethyl ester].
Hattori Y et al.
Rinsho Shinkeigaku = Clinical Neurology, 2001
A case of cardiomyopathy showing progression from the hypertrophic to the dilated form: association of Mt8348A-->G mutation in the mitochondrial tRNA(Lys) gene with severe ultrastructural alterations of mitochondria in cardiomyocytes.
Terasaki F et al.
Japanese Circulation Journal, 2001
Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA.
Tanaka K et al.
Internal Medicine (tokyo, Japan), 2000
[Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with chronic renal failure: report of mother-child cases].
Ihara M et al.
Rinsho Shinkeigaku = Clinical Neurology, 1996
[Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with delayed and decreased cerebral blood flow on cerebral angiography--a case report].
Chikama M et al.
Rinsho Shinkeigaku = Clinical Neurology, 1994