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Eduardo Ruiz-Pesini

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David Pacheu-Grau; Aurora Gómez-Durán; Eldris Iglesias; Ester López-Gallardo; Julio Montoya; Eduardo Ruiz-Pesini
Mitochondrial antibiograms in personalized medicine.
David Pacheu-Grau; Aurora Gómez-Durán; Ester López-Gallardo; Julio Montoya; Eduardo Ruiz-Pesini
Read-through therapy for mitochondrial DNA nonsense mutations.
David Pacheu-Grau; Laura Pérez-Delgado; Jesus Fraile-Rodrigo; Covadonga Gómez-Díaz; Julio Montoya; Eduardo Ruiz-Pesini
Mitochondrial ribosome and Ménière's disease: a pilot study.

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2013: David Pacheu-Grau; Aurora Gómez-Durán; Eldris Iglesias; Ester López-Gallardo; Julio Montoya; Eduardo Ruiz-Pesini
Mitochondrial antibiograms in personalized medicine.
Human molecular genetics 2013;22(6):1132-9.
2012: David Pacheu-Grau; Aurora Gómez-Durán; Ester López-Gallardo; Julio Montoya; Eduardo Ruiz-Pesini
Read-through therapy for mitochondrial DNA nonsense mutations.
Drug discovery today 2012;17(19-20):1063-7.
2012: David Pacheu-Grau; Laura Pérez-Delgado; Jesus Fraile-Rodrigo; Covadonga Gómez-Díaz; Julio Montoya; Eduardo Ruiz-Pesini
Mitochondrial ribosome and Ménière's disease: a pilot study.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2012;269(8):2003-8.
2012: María del Mar O'Callaghan; Sonia Emperador; Isidre Ferrer; Angels Garcia-Cazorla; Diana Gonzaga; Cristina Jou; Ester López-Gallardo; Raquel Montero; Rafael Artuch; Paz Briones; Nuria Buján; Mercè Pineda; Eduardo Ruiz-Pesini; Julio Montoya
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.
Neurogenetics 2012;13(3):245-50.
2012: Aurora Gómez-Durán; Ester López-Gallardo; Manuel J López-Pérez; Iñigo Martínez-Romero; Julio Montoya; David Pacheu-Grau; Eduardo Ruiz-Pesini
Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy.
Biochimica et biophysica acta 2012;1822(8):1216-22.
2012: Lorente Leonardo; María M Martín; Julio Montoya; José Blanquer; César Díaz; Ruth Iceta; Alejandro Jiménez; Lorenzo Labarta; Esther López-Gallardo; Jordi Solé-Violán; Eduardo Ruiz-Pesini
Survival and mitochondrial function in septic patients according to mitochondrial DNA haplogroup.
Critical care (London, England) 2012;16(1):R10.
2011: Gisela Nogales-Gadea; Tomàs Pinós; Jonatan R Ruiz; Eduardo Ruiz-Pesini; Antoni L Andreu; Joaquín Arenas; Carmen Fiuza-Luces; Ester López-Gallardo; Miguel Angel Martín; Pedro Femia Marzo; María Morán; Alejandro Lucia
Are mitochondrial haplogroups associated with elite athletic status? A study on a Spanish cohort.
Mitochondrion 2011;11(6):905-8.
2011: David Pacheu-Grau; Tomàs Pinós; Antoni L Andreu; Aurora Gómez-Durán; Ester López-Gallardo; Manuel J López-Pérez; Julio Montoya; Eduardo Ruiz-Pesini
'Progress' renders detrimental an ancient mitochondrial DNA genetic variant.
Human molecular genetics 2011;20(21):4224-31.
2011: Ester López-Gallardo; Julio Montoya; Ruth Iceta; Eldris Iglesias; Eduardo Ruiz-Pesini
OXPHOS toxicogenomics and Parkinson's disease.
Mutation research 2011;728(3):98-106.
2011: Mireia Tondo; Sonia Emperador; Angels Garcia-Cazorla; Maria T Garcia-Silva; Ignácio Málaga; Elena Martin-Hernandez; Julio Montoya; Mar O'Callaghan; Aida Ormazabal; Merce Pineda; Eduardo Ruiz-Pesini; Mercedes Serrano; Rafael Artuch
Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients.
Mitochondrion 2011;11(6):867-70.
2011: Francisco Cammarata-Scalisi; Gloria Da Silva; Sonia Emperador; Ester López-Gallardo; Nolis Camacho; Eduardo Ruiz-Pesini; Julio Montoya
[Pearson syndrome. Case report].
Investigación clínica 2011;52(3):261-7.
2011: Lorente Leonardo; Santiago Lubillo; María M Martín; Nuria Medina; Froilán Méndez; Julio Montoya; María Luisa Mora; José Blanquer; César Díaz; José M Ferrer-Agüero; José Ferreres; Miriram Hernández; Ruth Iceta; Alejandro Jiménez; Lorenzo Labarta; Noelia Lafuente; Maria C LLimiñana; Esther López-Gallardo; Manuel Sanchez-Palacios; Jordi Solé-Violán; Eduardo Ruiz-Pesini
Platelet cytochrome c oxidase activity and quantity in septic patients.
Critical care medicine 2011;39(6):1289-94.
2011: María Pilar Bayona-Bafaluy; Ester López-Gallardo; Julio Montoya; Eduardo Ruiz-Pesini
Maternally inherited susceptibility to cancer.
Biochimica et biophysica acta 2011;1807(6):643-9.
2011: Aurora Gómez-Durán; David Pacheu-Grau; Manuel J López-Pérez; Julio Montoya; Eduardo Ruiz-Pesini
Mitochondrial pharma-Q-genomics: targeting the OXPHOS cytochrome b.
Drug discovery today 2011;16(5-6):176-80.
2011: Roberto Blanco; Elvira Mayordomo; Julio Montoya; Eduardo Ruiz-Pesini
Rebooting the human mitochondrial phylogeny: an automated and scalable methodology with expert knowledge.
BMC bioinformatics 2011;12():174.
2010: Francisco J Ascaso; Ester Lopez-Gallardo; Eduardo Del Prado; Eduardo Ruiz-Pesini; Julio Montoya
Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions.
Clinical & experimental ophthalmology 2010;38(8):812-6.
2010: José Guevara-Campos; Lucía González-Guevara; Paz Briones; Ester López-Gallardo; Nuria Bulán; Eduardo Ruiz-Pesini; Denisse Ramnarine; Julio Montoya
Autism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain.
Investigación clínica 2010;51(3):423-31.
2010: David Pacheu-Grau; Aurora Gómez-Durán; Julio Montoya; Eduardo Ruiz-Pesini
Influence of mtDNA genetic variation on antibiotic therapy.
Pharmacogenomics 2010;11(9):1185-7.
2010: Aurora Gómez-Durán; David Pacheu-Grau; Ester López-Gallardo; Carmen Díez-Sánchez; Julio Montoya; Manuel J López-Pérez; Eduardo Ruiz-Pesini
Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups.
Human molecular genetics 2010;19(17):3343-53.
2010: Ramon Martí; Andrés Nascimento; Jaume Colomer; Maria Carmen Lara; Ester López-Gallardo; Eduardo Ruiz-Pesini; Julio Montoya; Antoni L Andreu; Paz Briones; Mercè Pineda
Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.
Pediatric research 2010;68(2):151-4.
2010: Mercedes Serrano; María Teresa García-Silva; Elena Martin-Hernandez; Maria del Mar O'Callaghan; Pilar Quijada; Ana Martinez-Aragón; Aida Ormazábal; Alberto Blázquez; Miguel A Martín; Paz Briones; Ester López-Gallardo; Eduardo Ruiz-Pesini; Julio Montoya; Rafael Artuch; Mercedes Pineda
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.
Mitochondrion 2010;10(5):429-32.
2010: Maria Dolores Herrero-Martín; Teresa Ayuso; Maria Teresa Tuñón; Miguel Angel Martín; Eduardo Ruiz-Pesini; Julio Montoya
A MELAS/MERRF phenotype associated with the mitochondrial DNA 5521G>A mutation.
Journal of neurology, neurosurgery, and psychiatry 2010;81(4):471-2.
2010: Diana Martínez-Redondo; Ana Marcuello; José A Casajús; Ignacio Ara; Yahya Dahmani; Julio Montoya; Eduardo Ruiz-Pesini; Manuel J López-Pérez; Carmen Díez-Sánchez
Human mitochondrial haplogroup H: the highest VO2max consumer--is it a paradox?
Mitochondrion 2010;10(2):102-7.
2010: David Pacheu-Grau; Aurora Gómez-Durán; Manuel J López-Pérez; Julio Montoya; Eduardo Ruiz-Pesini
Mitochondrial pharmacogenomics: barcode for antibiotic therapy.
Drug discovery today 2010;15(1-2):33-9.
2009: Taha Rhouda; Diana Martínez-Redondo; Aurora Gómez-Durán; Noureddine Elmtili; Mouhamed Idaomar; Carmen Díez-Sánchez; Julio Montoya; Manuel J López-Pérez; Eduardo Ruiz-Pesini
Moroccan mitochondrial genetic background suggests prehistoric human migrations across the Gibraltar Strait.
Mitochondrion 2009;9(6):402-7.
2009: Ester López-Gallardo; Manuel J López-Pérez; Julio Montoya; Eduardo Ruiz-Pesini
CPEO and KSS differ in the percentage and location of the mtDNA deletion.
Mitochondrion 2009;9(5):314-7.
2009: Elena Domínguez-Garrido; Diana Martínez-Redondo; Carmen Martín-Ruiz; Aurora Gómez-Durán; Eduardo Ruiz-Pesini; Pilar Madero; Manuel Tamparillas; Julio Montoya; Thomas von Zglinicki; Carmen Díez-Sánchez; Manuel J López-Pérez
Association of mitochondrial haplogroup J and mtDNA oxidative damage in two different North Spain elderly populations.
Biogerontology 2009;10(4):435-42.
2009: Sher L Hendrickson; Lawrence A Kingsley; Eduardo Ruiz-Pesini; Poole Jason; Lisa P Jacobson; Frank J Palella; Jay H Bream; Douglas C Wallace; Stephen J O'Brien
Mitochondrial DNA haplogroups influence lipoatrophy after highly active antiretroviral therapy.
Journal of acquired immune deficiency syndromes (1999) 2009;51(2):111-6.
2009: Julio Montoya; Ester López-Gallardo; Carmen Díez-Sánchez; Manuel J López-Pérez; Eduardo Ruiz-Pesini
20 years of human mtDNA pathologic point mutations: carefully reading the pathogenicity criteria.
Biochimica et biophysica acta 2009;1787(5):476-83.
2009: Prasanth Potluri; Antonio Davila; Eduardo Ruiz-Pesini; Dan Mishmar; Sean O'Hearn; Saege Hancock; Mariella Simon; Immo E Scheffler; Douglas C Wallace; Vincent Procaccio
A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.
Molecular genetics and metabolism 2009;96(4):189-95.
2009: Ana Marcuello; Diana Martínez-Redondo; Yahya Dahmani; José A Casajús; Eduardo Ruiz-Pesini; Julio Montoya; Manuel J López-Pérez; Carmen Díez-Sánchez
Human mitochondrial variants influence on oxygen consumption.
Mitochondrion 2009;9(1):27-30.
2009: Julio Montoya; Ester López-Gallardo; María Dolores Herrero-Martín; Iñigo Martínez-Romero; Aurora Gómez-Durán; David Pacheu; Magdalena Carreras; Carmen Díez-Sánchez; Manuel J López-Pérez; Eduardo Ruiz-Pesini
Diseases of the human mitochondrial oxidative phosphorylation system.
Advances in experimental medicine and biology 2009;652():47-67.
2009: Ester López-Gallardo; Abelardo Solano; M D Herrero-Martín; I Martínez-Romero; M D Castaño-Pérez; Antoni L Andreu; Antonio Herrera; M J López-Pérez; Eduardo Ruiz-Pesini; Julio Montoya
NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.
Journal of medical genetics 2009;46(1):64-7.
2009: Martin Brandon; Eduardo Ruiz-Pesini; Dan Mishmar; Vincent Procaccio; Marie T Lott; Kevin Cuong Nguyen; Syawal Spolim; Upen Patil; Pierre Baldi; Douglas C Wallace
MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences.
Human mutation 2009;30(1):1-6.
2008: Rosa Pello; Miguel A Martín; Valerio Carelli; Leo G Nijtmans; Alessandro Achilli; Maria Pala; Antonio Torroni; Aurora Gómez-Durán; Eduardo Ruiz-Pesini; Andrea Martinuzzi; Jan A M Smeitink; Joaquín Arenas; Cristina Ugalde
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.
Human molecular genetics 2008;17(24):4001-11.
2008: Sher L Hendrickson; Holli B Hutcheson; Eduardo Ruiz-Pesini; Poole Jason; James Lautenberger; Efe Sezgin; Lawrence Kingsley; James J Goedert; David Vlahov; Sharyne Donfield; Douglas C Wallace; Stephen J O'Brien
Mitochondrial DNA haplogroups influence AIDS progression.
AIDS (London, England) 2008;22(18):2429-39.
2008: María D Herrero-Martín; Mercedes Pineda; Paz Briones; Ester López-Gallardo; Magdalena Carreras; Mercedes Benac; Miguel Angel Idoate; Maria Antonia Vilaseca; Rafael Artuch; Manuel J López-Pérez; Eduardo Ruiz-Pesini; Julio Montoya
A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1).
Human mutation 2008;29(8):E112-22.
2008: Yahya Dahmani; Ana Marcuello; Carmen Díez-Sanchez; Eduardo Ruiz-Pesini; Julio Montoya; Manuel J López-Pérez
Association of human mitochondrial DNA variants with plasma LDL levels.
Mitochondrion 2008;8(3):247-53.
2007: Francisco Javier Carod-Artal; MARÍA DOLORES HERRERO MARTÍN; Maria Carmen Lara; Ester López-Gallardo; Eduardo Ruiz-Pesini; Ramon Martí; Julio Montoya
Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2007;14(5):581-5.
2007: Eduardo Ruiz-Pesini; Carmen Díez-Sánchez; Manuel J López-Pérez; José Antonio Enríquez
The role of the mitochondrion in sperm function: is there a place for oxidative phosphorylation or is this a purely glycolytic process?
Current topics in developmental biology 2007;77():3-19.
2007: R Delgado-Sánchez; A Zárate-Moysen; A Monsalvo-Reyes; MARÍA DOLORES HERRERO MARTÍN; Eduardo Ruiz-Pesini; Manuel J López-Pérez; Julio Montoya; J Francisco Montiel-Sosa
[Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with the A3243G mutation of the tRNALeu(UUR) gene of mtDNA in native American haplogroup B2].
Revista de neurologia 2007;44(1):18-22.
2007: Eduardo Ruiz-Pesini; Marie T Lott; Vincent Procaccio; Poole Jason; Martin Brandon; Dan Mishmar; Christina Yi; James Kreuziger; Pierre Baldi; Douglas C Wallace
An enhanced MITOMAP with a global mtDNA mutational phylogeny.
Nucleic acids research 2007;35(Database issue):D823-8.
2007: Joanne M Lind; Holli B Hutcheson-Dilks; scott williams; Jason Moore; Myron Essex; Eduardo Ruiz-Pesini; Douglas C Wallace; Sarah A Tishkoff; Stephen J O'Brien; Michael W Smith
Elevated male European and female African contributions to the genomes of African American individuals.
Human genetics 2007;120(5):713-22.
2006: Eduardo Ruiz-Pesini; Douglas C Wallace
Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA.
Human mutation 2006;27(11):1072-81.
2006: Eduardo Ruiz-Pesini; Ester López-Gallardo; Yahya Dahmani; MARÍA DOLORES HERRERO MARTÍN; Abelardo Solano; Carmen Díez-Sánchez; Manuel J López-Pérez; Julio Montoya
[Diseases of the human mitochondrial oxidative phosphorylation system].
Revista de neurologia 2006;43(7):416-24.
2006: José A Camacho; Rebecca Mardach; Natalia Rioseco-Camacho; Eduardo Ruiz-Pesini; Olga A Derbeneva; Dario Andrade; Frank Zaldivar; Yong Qu; Stephen D Cederbaum
Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
Pediatric research 2006;60(4):423-9.
2006: Julio Montoya; Manuel J López-Pérez; Eduardo Ruiz-Pesini
Mitochondrial DNA transcription and diseases: past, present and future.
Biochimica et biophysica acta 2006;1757(9-10):1179-89.
2006: Dan Mishmar; Eduardo Ruiz-Pesini; Mariana Mondragon Palomino; Vincent Procaccio; Brandon S Gaut; Douglas C Wallace
Adaptive selection of mitochondrial complex I subunits during primate radiation.
Gene 2006;378():11-8.
2006: Francisco Javier Carod-Artal; Ester López-Gallardo; Abelardo Solano; Yahya Dahmani; Eduardo Ruiz-Pesini; Julio Montoya
[Deletions of the mitochondrial DNA associated to chronic progressive external ophthalmoplegia with ragged-red fibers in 2 Brazilian patients].
Medicina clínica 2006;126(12):457-60.
2006: Francisco Montiel-Sosa; Eduardo Ruiz-Pesini; José Antonio Enríquez; Ana Marcuello; Carmen Díez-Sánchez; Julio Montoya; Douglas C Wallace; Manuel J López-Pérez
Differences of sperm motility in mitochondrial DNA haplogroup U sublineages.
Gene 2006;368():21-7.
2005: John Petros; Amanda K Baumann; Eduardo Ruiz-Pesini; Mahul B Amin; Carrie Q Sun; John Hall; SoDug Lim; Muta M Issa; W Dana Flanders; Seyed H Hosseini; Fray F Marshall; Douglas C Wallace
mtDNA mutations increase tumorigenicity in prostate cancer.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(3):719-24.
2005: Elena B Starikovskaya; Rem I Sukernik; Olga A Derbeneva; Natalia V Volodko; Eduardo Ruiz-Pesini; Antonio Torroni; Michael D Brown; Marie T Lott; Seyed H Hosseini; Kirsi Huoponen; Douglas C Wallace
Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups.
Annals of human genetics 2005;69(Pt 1):67-89.
2004: Dan Mishmar; Eduardo Ruiz-Pesini; Martin Brandon; Douglas C Wallace
Mitochondrial DNA-like sequences in the nucleus (NUMTs): insights into our African origins and the mechanism of foreign DNA integration.
Human mutation 2004;23(2):125-33.
2004: Eduardo Ruiz-Pesini; Dan Mishmar; Martin Brandon; Vincent Procaccio; Douglas C Wallace
Effects of purifying and adaptive selection on regional variation in human mtDNA.
Science (New York, N.Y.) 2004;303(5655):223-6.
2003: Carmen Díez-Sánchez; Eduardo Ruiz-Pesini; Julio Montoya; Acisclo Pérez-Martos; José Antonio Enríquez; Manuel J López-Pérez
Mitochondria from ejaculated human spermatozoa do not synthesize proteins.
FEBS letters 2003;553(1-2):205-8.
2003: Pinar E Coskun; Eduardo Ruiz-Pesini; Douglas C Wallace
Control region mtDNA variants: longevity, climatic adaptation, and a forensic conundrum.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(5):2174-6.
2003: Dan Mishmar; Eduardo Ruiz-Pesini; Pawel Golik; Vincent Macaulay; andrew clark; Seyed Hosseini; Martin Brandon; Kirk Easley; Estella Chen; Michael D Brown; Rem I Sukernik; Antonel Olckers; Douglas C Wallace
Natural selection shaped regional mtDNA variation in humans.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(1):171-6.
2003: Douglas C Wallace; Eduardo Ruiz-Pesini; Dan Mishmar
mtDNA variation, climatic adaptation, degenerative diseases, and longevity.
Cold Spring Harbor symposia on quantitative biology 2003;68():479-86.
2003: Carmen Díez-Sánchez; Eduardo Ruiz-Pesini; Ana Cristina Lapeña; Julio Montoya; Acisclo Pérez-Martos; José Antonio Enríquez; Manuel J López-Pérez
Mitochondrial DNA content of human spermatozoa.
Biology of reproduction 2003;68(1):180-5.
2001: Eduardo Ruiz-Pesini; E Alvarez; José Antonio Enríquez; Manuel J López-Pérez
Association between seminal plasma carnitine and sperm mitochondrial enzymatic activities.
International journal of andrology 2001;24(6):335-40.
2000: Eduardo Ruiz-Pesini; Ana Cristina Lapeña; C Díez; E Alvarez; José Antonio Enríquez; Manuel J López-Pérez
Seminal quality correlates with mitochondrial functionality.
Clinica chimica acta; international journal of clinical chemistry 2000;300(1-2):97-105.
2000: Eduardo Ruiz-Pesini; Ana Cristina Lapeña; Carmen Díez-Sánchez; Acisclo Pérez-Martos; Julio Montoya; E Alvarez; M Díaz; A Urriés; L Montoro; Manuel J López-Pérez; José Antonio Enríquez
Human mtDNA haplogroups associated with high or reduced spermatozoa motility.
American journal of human genetics 2000;67(3):682-96.
2000: J Francisco Montiel-Sosa; Eduardo Ruiz-Pesini; Julio Montoya; Pedro Roncalés; Manuel J López-Pérez; Acisclo Pérez-Martos
Direct and highly species-specific detection of pork meat and fat in meat products by PCR amplification of mitochondrial DNA.
Journal of agricultural and food chemistry 2000;48(7):2829-32.
1999: José Antonio Molina; Eduardo Ruiz-Pesini; Félix Javier Jiménez-Jiménez; Manuel J López-Pérez; E Alvarez; A Berbel; M Ortí-Pareja; M Zurdo; A Tallón-Barranco; Fernando de Bustos; Joaquín Arenas
Respiratory chain enzyme activities in spermatozoa from untreated Parkinson's disease patients.
Journal of neural transmission (Vienna, Austria : 1996) 1999;106(9-10):919-24.
1998: Eduardo Ruiz-Pesini; C Diez; Ana Cristina Lapeña; Acisclo Pérez-Martos; Julio Montoya; E Alvarez; Joaquín Arenas; Manuel J López-Pérez
Correlation of sperm motility with mitochondrial enzymatic activities.
Clinical chemistry 1998;44(8 Pt 1):1616-20.