Published in Clin Experiment Ophthalmol on November 01, 2010
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Macular findings in Spectral Domain Optical Coherence Tomography and OCT Angiography in a patient with Kearns-Sayre syndrome. Int J Retina Vitreous (2017) 0.75
Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci U S A (2002) 6.95
mtDNA mutations increase tumorigenicity in prostate cancer. Proc Natl Acad Sci U S A (2005) 4.66
Platelet cytochrome c oxidase activity and quantity in septic patients. Crit Care Med (2011) 2.23
Replication and transcription of mammalian mitochondrial DNA. Exp Physiol (2003) 1.99
Elevated male European and female African contributions to the genomes of African American individuals. Hum Genet (2006) 1.97
Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups. Hum Mol Genet (2010) 1.79
Control region mtDNA variants: longevity, climatic adaptation, and a forensic conundrum. Proc Natl Acad Sci U S A (2003) 1.57
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. Hum Mol Genet (2008) 1.56
Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups. Ann Hum Genet (2005) 1.54
Transient overexpression of mitochondrial transcription factor A (TFAM) is sufficient to stimulate mitochondrial DNA transcription, but not sufficient to increase mtDNA copy number in cultured cells. Nucleic Acids Res (2004) 1.53
Human mitochondrial transcription factor A induces a U-turn structure in the light strand promoter. Nat Struct Mol Biol (2011) 1.51
A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. Mol Genet Metab (2009) 1.47
An intragenic suppressor in the cytochrome c oxidase I gene of mouse mitochondrial DNA. Hum Mol Genet (2003) 1.44
Mitochondrial DNA-like sequences in the nucleus (NUMTs): insights into our African origins and the mechanism of foreign DNA integration. Hum Mutat (2004) 1.39
Adaptive selection of mitochondrial complex I subunits during primate radiation. Gene (2006) 1.31
Mitochondrial DNA haplogroups influence AIDS progression. AIDS (2008) 1.29
A randomised controlled trial of motivational interviewing for smoking cessation. Br J Gen Pract (2006) 1.27
Mitochondrial DNA haplogroups influence lipoatrophy after highly active antiretroviral therapy. J Acquir Immune Defic Syndr (2009) 1.24
A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease. Ann N Y Acad Sci (2008) 1.22
Differences of sperm motility in mitochondrial DNA haplogroup U sublineages. Gene (2005) 1.21
Human mitochondrial haplogroup H: the highest VO2max consumer--is it a paradox? Mitochondrion (2009) 1.18
Tissue-specific differences in mitochondrial activity and biogenesis. Mitochondrion (2010) 1.17
Import of mitochondrial transcription factor A (TFAM) into rat liver mitochondria stimulates transcription of mitochondrial DNA. Nucleic Acids Res (2003) 1.12
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. Ann Neurol (2006) 1.12
Human mitochondrial mTERF wraps around DNA through a left-handed superhelical tandem repeat. Nat Struct Mol Biol (2010) 1.12
Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy. Biochim Biophys Acta (2012) 1.11
MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences. Hum Mutat (2009) 1.10
Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene. Ann Neurol (2003) 1.10
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies. BMC Genomics (2014) 1.04
Human mitochondrial variants influence on oxygen consumption. Mitochondrion (2008) 1.01
Mitochondrial DNA transcription and diseases: past, present and future. Biochim Biophys Acta (2006) 0.99
20 years of human mtDNA pathologic point mutations: carefully reading the pathogenicity criteria. Biochim Biophys Acta (2008) 0.98
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. Mitochondrion (2010) 0.97
Association of mitochondrial haplogroup J and mtDNA oxidative damage in two different North Spain elderly populations. Biogerontology (2008) 0.95
Liver failure caused by herpes simplex virus thymidine kinase plus ganciclovir therapy is associated with mitochondrial dysfunction and mitochondrial DNA depletion. Hum Gene Ther (2003) 0.94
Cisplatin-mediated impairment of mitochondrial DNA metabolism inversely correlates with glutathione levels. Biochem J (2008) 0.91
CPEO and KSS differ in the percentage and location of the mtDNA deletion. Mitochondrion (2009) 0.90
Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects. Drug Discov Today (2012) 0.89
Mitochondrial gene expression is regulated at multiple levels and differentially in the heart and liver by thyroid hormones. Curr Genet (2008) 0.89
Mitochondrial diseases mimicking neurotransmitter defects. Mitochondrion (2008) 0.88
Autism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain. Invest Clin (2010) 0.88
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients. Mol Genet Metab (2012) 0.86
In vitro transcription termination activity of the Drosophila mitochondrial DNA-binding protein DmTTF. Biochem Biophys Res Commun (2005) 0.86
Mitochondrial DNA content of human spermatozoa. Biol Reprod (2003) 0.86
Survival and mitochondrial function in septic patients according to mitochondrial DNA haplogroup. Crit Care (2012) 0.86
The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction. Acta Neuropathol (2002) 0.85
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. Neurogenetics (2012) 0.85
Steady exercise removes VO(2max) difference between mitochondrial genomic variants. Mitochondrion (2009) 0.84
Mitochondrial antibiograms in personalized medicine. Hum Mol Genet (2012) 0.84
Altered expression of master regulatory genes of adipogenesis in lipomas from patients bearing tRNA(Lys) point mutations in mitochondrial DNA. Mol Genet Metab (2006) 0.84
Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes. Mitochondrion (2013) 0.83
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report. Clin Biochem (2008) 0.83
Severe septic patients with mitochondrial DNA haplogroup JT show higher survival rates: a prospective, multicenter, observational study. PLoS One (2013) 0.83
Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Pediatr Res (2006) 0.82
Phosphorylation of rat mitochondrial transcription termination factor (mTERF) is required for transcription termination but not for binding to DNA. Nucleic Acids Res (2004) 0.82
Rebooting the human mitochondrial phylogeny: an automated and scalable methodology with expert knowledge. BMC Bioinformatics (2011) 0.82
Association of human mitochondrial DNA variants with plasma LDL levels. Mitochondrion (2008) 0.82
Moroccan mitochondrial genetic background suggests prehistoric human migrations across the Gibraltar Strait. Mitochondrion (2009) 0.81
Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene. Pediatr Res (2010) 0.80
Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA. FEBS Lett (2005) 0.80
OXPHOS toxicogenomics and Parkinson's disease. Mutat Res (2011) 0.80
Higher platelet cytochrome oxidase specific activity in surviving than in non-surviving septic patients. Crit Care (2014) 0.79
New DNA-binding activity of rat mitochondrial transcription termination factor (mTERF). J Biochem (2004) 0.78
Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients. Mitochondrion (2011) 0.78
'Progress' renders detrimental an ancient mitochondrial DNA genetic variant. Hum Mol Genet (2011) 0.78
Mitochondrial pharma-Q-genomics: targeting the OXPHOS cytochrome b. Drug Discov Today (2010) 0.78
Mitochondrial pharmacogenomics: barcode for antibiotic therapy. Drug Discov Today (2009) 0.78
Mitochondrial ribosome and Ménière's disease: a pilot study. Eur Arch Otorhinolaryngol (2012) 0.77
Maternally inherited susceptibility to cancer. Biochim Biophys Acta (2010) 0.77
A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1). Hum Mutat (2008) 0.77
[Pearson syndrome. Case report]. Invest Clin (2011) 0.77