Søgeresultater - Eduardo Ruiz‐Pesini
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Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy af Aurora Gómez-Durán, David Pacheu‐Grau, Íñigo Martínez‐Romero, Ester López‐Gallardo, Manuel J. López‐Pérez, Julio Montoya, Eduardo Ruiz‐Pesini
Udgivet 2012Artigo -
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A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease af Prasanth Potluri, Antonio Dávila, Eduardo Ruiz‐Pesini, Dan Mishmar, Sean F. O’Hearn, Saege Hancock, Mariella Simon, Immo E. Scheffler, Douglas C. Wallace, Vincent Procaccio
Udgivet 2009Artigo -
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Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of Native American Haplogroups af Elena B. Starikovskaya, R. I. Sukernik, Olga Derbeneva, Natalia Volodko, Eduardo Ruiz‐Pesini, Antonio Torroni, Michael D. Brown, Marie T. Lott, Seyed H. Hosseini, Kirsi Huoponen, Douglas C. Wallace
Udgivet 2005Artigo -
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Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease af Rosa Pello, Miguel A. Martı́n, Valério Carelli, Leo Nijtmans, Alessandro Achilli, Maria Pala, Antonio Torroni, Aurora Gómez-Durán, Eduardo Ruiz‐Pesini, Andrea Martinuzzi, Jan Smeitink, Joaquı́n Arenas, Cristina Ugalde
Udgivet 2008Artigo -
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Human mtDNA Haplogroups Associated with High or Reduced Spermatozoa Motility af Eduardo Ruiz‐Pesini, Ana-Cristina Lapeña, Carmen Dı́ez-Sánchez, Acisclo Pérez‐Martos, Julio Montoya, Enríque Alvarez, Miguel Ángel Díaz, Antonio Urriés, Luis Montoro, Manuel J. López‐Pérez, José Antonio Enrı́quez
Udgivet 2000Artigo -
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Expanding the clinical phenotypes of MT-ATP6 mutations af Ester López‐Gallardo, Sonia Emperador, Abelardo Solano, Laura Llobet, Antonio Martín‐Navarro, Manuel J. López‐Pérez, Paz Briones, Mercédes Pineda, Rafael Artuch, Elena Barraquer, Ivonne Jericó, Eduardo Ruiz‐Pesini, Julio Montoya
Udgivet 2014Artigo -
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Natural selection shaped regional mtDNA variation in humans af Dan Mishmar, Eduardo Ruiz‐Pesini, Paweł Golik, Vincent Macaulay, Andrew G. Clark, Seyed Vali Hosseini, Martin Brandon, Kirk A. Easley, Estella Chen, Michael D. Brown, R. I. Sukernik, Antonel Olckers, Douglas C. Wallace
Udgivet 2002Artigo -
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Mitochondrial DNA haplogroups influence AIDS progression af Sher L. Hendrickson, Holli B. Hutcheson, Eduardo Ruiz‐Pesini, Jason C. Poole, James A. Lautenberger, Efe Sezgın, Lawrence Kingsley, James J. Goedert, David Vlahov, Sharyne Donfield, Douglas C. Wallace, Stephen J. O’Brien
Udgivet 2008Artigo -
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Influence of Mitochondrial Genetics on the Mitochondrial Toxicity of Linezolid in Blood Cells and Skin Nerve Fibers af Glòria Garrabou, Álex Soriano, Tomàs Pinós, Jordi Casanova‐Mollá, David Pacheu‐Grau, Constanza Morén, Elena García‐Arumí, M. Morales, Eduardo Ruiz‐Pesini, Marc Catalán‐García, José C. Milisenda, Ester Lozano, Antoni L. Andreu, Julio Montoya, Josep Mensa, Francesc Cardellach
Udgivet 2017Artigo -
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Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome af Pilar Quijada‐Fraile, Mar O’Callaghan, Elena Martín‐Hernández, Raquel Montero, Àngels García‐Cazorla, Ana Martı́nez de Aragón, Jordi Muchart, Ignacio Málaga, R Pardo, Pedro García-Gonzalez, Cristina Jou, Julio Montoya, Sonia Emperador, Eduardo Ruiz‐Pesini, Joaquı́n Arenas, Miguel A. Martı́n, Aída Ormazábal, Mercè Pineda, María Teresa García‐Silva, Rafael Artuch
Udgivet 2014Artigo -
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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 no... af Susana G. Kalko, Sonia Paco, Cristina Jou, Maria Angels Rodríguez, Marija Meznarič, Mihael Rogač, Maja Jekovec‐Vrhovsěk, Monica Sciacco, Maurizio Moggio, Gigliola Fagiolari, Boél De Paepe, Linda De Meırleır, Isidró Ferrer, Manel Roig-Quilis, Francina Munell, Julio Montoya, Ester López‐Gallardo, Eduardo Ruiz‐Pesini, Rafael Artuch, Raquel Montero, Ferrán Torner, A. Nascimento, C. Ortez, J. Colomer, C. Jimenez‐Mallebrera
Udgivet 2014Artigo -
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GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction af Raquel Montero, Dèlia Yubero, Joan Villarroya, Desirée Henares, Cristina Jou, Maria Angeles Rodríguez, Federico Ramos, A. Nascimento, C. Ortez, Jaume Campistol, Belén Pérez‐Dueñas, Mar O’Callaghan, Mercédes Pineda, Ángeles García‐Cazorla, J. Colomer Oferil, Julio Montoya, Eduardo Ruiz‐Pesini, Sonia Emperador, Marija Meznarič, Laura Campderrós, Susana G. Kalko, Francesc Villarroya, Rafael Artuch, C. Jimenez‐Mallebrera
Udgivet 2016Artigo
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