PubRank

Eduardo Ruiz-Pesini

Author PubWeight™ 62.82‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci U S A 2002 6.95
2 mtDNA mutations increase tumorigenicity in prostate cancer. Proc Natl Acad Sci U S A 2005 4.66
3 Platelet cytochrome c oxidase activity and quantity in septic patients. Crit Care Med 2011 2.23
4 Elevated male European and female African contributions to the genomes of African American individuals. Hum Genet 2006 1.97
5 Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups. Hum Mol Genet 2010 1.79
6 Control region mtDNA variants: longevity, climatic adaptation, and a forensic conundrum. Proc Natl Acad Sci U S A 2003 1.57
7 Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. Hum Mol Genet 2008 1.56
8 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
9 A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. Mol Genet Metab 2009 1.47
10 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
11 Adaptive selection of mitochondrial complex I subunits during primate radiation. Gene 2006 1.31
12 Mitochondrial DNA haplogroups influence AIDS progression. AIDS 2008 1.29
13 Mitochondrial DNA haplogroups influence lipoatrophy after highly active antiretroviral therapy. J Acquir Immune Defic Syndr 2009 1.24
14 A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease. Ann N Y Acad Sci 2008 1.22
15 Differences of sperm motility in mitochondrial DNA haplogroup U sublineages. Gene 2005 1.21
16 Human mitochondrial haplogroup H: the highest VO2max consumer--is it a paradox? Mitochondrion 2009 1.18
17 Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy. Biochim Biophys Acta 2012 1.11
18 MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences. Hum Mutat 2009 1.10
19 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
20 Human mitochondrial variants influence on oxygen consumption. Mitochondrion 2008 1.01
21 Mitochondrial DNA transcription and diseases: past, present and future. Biochim Biophys Acta 2006 0.99
22 20 years of human mtDNA pathologic point mutations: carefully reading the pathogenicity criteria. Biochim Biophys Acta 2008 0.98
23 Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. Mitochondrion 2010 0.97
24 Association of mitochondrial haplogroup J and mtDNA oxidative damage in two different North Spain elderly populations. Biogerontology 2008 0.95
25 CPEO and KSS differ in the percentage and location of the mtDNA deletion. Mitochondrion 2009 0.90
26 Autism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain. Invest Clin 2010 0.88
27 Survival and mitochondrial function in septic patients according to mitochondrial DNA haplogroup. Crit Care 2012 0.86
28 Mitochondrial DNA content of human spermatozoa. Biol Reprod 2003 0.86
29 New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. Neurogenetics 2012 0.85
30 Mitochondrial antibiograms in personalized medicine. Hum Mol Genet 2012 0.84
31 Severe septic patients with mitochondrial DNA haplogroup JT show higher survival rates: a prospective, multicenter, observational study. PLoS One 2013 0.83
32 Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions. Clin Experiment Ophthalmol 2010 0.82
33 Association of human mitochondrial DNA variants with plasma LDL levels. Mitochondrion 2008 0.82
34 Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Pediatr Res 2006 0.82
35 Rebooting the human mitochondrial phylogeny: an automated and scalable methodology with expert knowledge. BMC Bioinformatics 2011 0.82
36 Moroccan mitochondrial genetic background suggests prehistoric human migrations across the Gibraltar Strait. Mitochondrion 2009 0.81
37 OXPHOS toxicogenomics and Parkinson's disease. Mutat Res 2011 0.80
38 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
39 Higher platelet cytochrome oxidase specific activity in surviving than in non-surviving septic patients. Crit Care 2014 0.79
40 Mitochondrial pharma-Q-genomics: targeting the OXPHOS cytochrome b. Drug Discov Today 2010 0.78
41 Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients. Mitochondrion 2011 0.78
42 Mitochondrial pharmacogenomics: barcode for antibiotic therapy. Drug Discov Today 2009 0.78
43 'Progress' renders detrimental an ancient mitochondrial DNA genetic variant. Hum Mol Genet 2011 0.78
44 A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1). Hum Mutat 2008 0.77
45 Mitochondrial ribosome and Ménière's disease: a pilot study. Eur Arch Otorhinolaryngol 2012 0.77
46 [Pearson syndrome. Case report]. Invest Clin 2011 0.77
47 Maternally inherited susceptibility to cancer. Biochim Biophys Acta 2010 0.77
48 A MELAS/MERRF phenotype associated with the mitochondrial DNA 5521G>A mutation. J Neurol Neurosurg Psychiatry 2010 0.76
49 FK506 affects mitochondrial protein synthesis and oxygen consumption in human cells. Cell Biol Toxicol 2013 0.76
50 Mitochondria from ejaculated human spermatozoa do not synthesize proteins. FEBS Lett 2003 0.76
51 Diseases of the human mitochondrial oxidative phosphorylation system. Adv Exp Med Biol 2009 0.76
52 Are mitochondrial haplogroups associated with elite athletic status? A study on a Spanish cohort. Mitochondrion 2011 0.75
53 Influence of mtDNA genetic variation on antibiotic therapy. Pharmacogenomics 2010 0.75
54 Effects of Tributyltin Chloride on Cybrids with or without an ATP Synthase Pathologic Mutation. Environ Health Perspect 2016 0.75
55 Stressed cybrids model demyelinated axons in multiple sclerosis. Metab Brain Dis 2013 0.75
56 [Deletions of the mitochondrial DNA associated to chronic progressive external ophthalmoplegia with ragged-red fibers in 2 Brazilian patients]. Med Clin (Barc) 2006 0.75
57 Phylogenetic analysis of mitochondrial DNA in a patient with Kearns-Sayre syndrome containing a novel 7629-bp deletion. Mitochondrial DNA 2013 0.75
58 Read-through therapy for mitochondrial DNA nonsense mutations. Drug Discov Today 2012 0.75
59 New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy. Clin Experiment Ophthalmol 2014 0.75