Mostrando resultados 1 a 20 de 24
Siguiente >
| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess | | feb-2006 | A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency | Quinzii, Catarina; Naini, Ali; Salviati, Leonardo; Trevisson, Eva; Navas, Plácido CSIC ORCID; DiMauro, Salvatore; Hirano, Michio | artículo |
| openAccess |  | 2019 | ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency | Vázquez-Fonseca, Luis; Schäefer, Jochen; Navas-Enamorado, Ignacio CSIC; Santos-Ocaña, Carlos CSIC ORCID ; Hernández-Camacho, Juan Diego; Guerra, Ignacio CSIC; Cascajo Almenara, M. V. CSIC ORCID; Sánchez-Cuesta, Ana CSIC ORCID; Horvath, Zoltan; Siendones, Emilio CSIC; Jou, Cristina; Casado, Mercedes; Gutierrez-Rios, Purificacion CSIC; Brea-Calvo, Gloria CSIC ORCID; López-Lluch, Guillermo CSIC ORCID CVN ; Fernández-Ayala, Daniel J. M.; Cortés-Rodríguez, Ana Belén CSIC ORCID; Rodríguez-Aguilera, Juan Carlos CSIC ORCID; Matté, Cristiane; Ribes, Antonia; Prieto-Soler, Sandra Y.; Dominguez-del-Toro, Eduardo; Francesco, Andrea Di; Aon, Miguel A.; Bernier, Michel; Salviati, Leonardo; Artuch, Rafael; Cabo, Rafael de; Jackson, Sandra; Navas, Plácido CSIC ORCID | artículo |
| openAccess |  | ene-2016 | ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism | Panza, Emanuele; Escamilla-Honrubia, Juan Manuel; Marco-Marín, Clara CSIC ORCID; Gougeard, Nadine CSIC ORCID; De Michele, Giuseppe; Brescia Morra, Vincenzo; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Nemeth, Andrea H; Smithson, Sarah; Davies, Sally; Hurst, Jane A; Bordo, Domenico; Rubio, Vicente CSIC ORCID ; Seri, Marco | artículo |
| closedAccess | | 20-mar-2008 | Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes | Montero, Raquel; Sánchez-Alcázar, José Antonio CSIC ORCID ; Briones, Paz CSIC; Rodríguez-Hernández, Ángeles CSIC ORCID; Cordero, Mario D. CSIC ORCID; Trevisson, Eva; Salviati, Leonardo; Pineda, Mercé; García-Cazorla, Angels; Navas, Plácido CSIC ORCID; Artuch, Rafael | artículo |
| closedAccess |  | 2011 | Coenzyme Q deficiency in muscle | Trevisson, Eva; DiMauro, Salvatore; Navas, Plácido CSIC ORCID; Salviati, Leonardo | artículo |
| openAccess |  | 1-ene-2009 | Coenzyme Q deficiency triggers mitochondria degradation by mitophagy | Rodríguez-Hernández, Ángeles CSIC ORCID; Cordero, Mario D. CSIC ORCID; Salviati, Leonardo; Artuch, Rafael; Pineda, Mercé; Briones, Paz CSIC; Gómez Izquierdo, Lourdes; Cotán, David CSIC; Navas, Plácido CSIC ORCID; Sánchez-Alcázar, José Antonio CSIC ORCID | artículo |
| closedAccess | | 2009 | Coenzyme Q10 deficiencies in neuromuscular diseases | Artuch, Rafael; Salviati, Leonardo; Jackson, Sandra; Navas, Plácido CSIC ORCID | capítulo de libro |
| closedAccess |  | 2013 | Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes | Montero, Raquel; Briones, Paz CSIC; Artuch, Rafael; Pineda, Mercé; García-Cazorla, Angels; Salviati, Leonardo; Navas, Plácido CSIC ORCID | artículo |
| closedAccess | | 25-nov-2008 | Coenzyme Q10 distribution in blood is altered in patients with Fibromyalgia | Cordero, Mario D. CSIC ORCID; Moreno-Fernández, Ana M.; Miguel, Manuel de; Bonal, Pablo; Campa, Francisco; Jiménez-Jiménez, L. M.; Ruiz-Losada, A.; Sánchez-Domínguez, Benito; Sánchez-Alcázar, José Antonio CSIC ORCID ; Salviati, Leonardo; Navas, Plácido CSIC ORCID | artículo |
| openAccess |  | 2014 | Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency | Doimo, Mara; Trevisson, Eva; Santos-Ocaña, Carlos CSIC ORCID ; Hildebrandt, Friedhelm; Navas, Plácido CSIC ORCID; Salviati, Leonardo | artículo |
| closedAccess | | 18-may-2008 | Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis | Casarin, Alberto; Jiménez-Ortega, José Carlos CSIC; Trevisson, Eva; Pertegato, Vanessa; Doimo, Mara; Ferrero-Gómez, María Lara; Abbadi, Sara; Artuch, Rafael; Quinzii, Catarina; Hirano, Michio; Basso, Giuseppe; Santos-Ocaña, Carlos CSIC ORCID ; Navas, Plácido CSIC ORCID; Salviati, Leonardo | artículo |
| closedAccess | | 24-ago-2009 | Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations | Trevisson, Eva; Burlina, Alberto; Doimo, Mara; Pertegato, Vanessa; Casarin, Alberto; Cesaro, Luca; Navas, Plácido CSIC ORCID; Basso, Giuseppe; Sartori, Geppo; Salviati, Leonardo | artículo |
| openAccess |  | 2012 | Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency | Salviati, Leonardo; Trevisson, Eva; Rodríguez-Hernández, Ángeles CSIC ORCID; Casarin, Alberto; Pertegato, Vanessa; Doimo, Mara; Sartori, Geppo; Artuch, Rafael; Quinzii, Catarina; DiMauro, Salvatore; Hirano, Michio; Santos-Ocaña, Carlos CSIC ORCID ; Navas, Plácido CSIC ORCID | artículo |
| closedAccess | | 20-mar-2007 | Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis | López-Martín, José María; Salviati, Leonardo; Trevisson, Eva; Montini, Giovanni; DiMauro, Salvatore; Quinzii, Catarina; Hirano, Michio; Rodríguez-Hernández, Ángeles CSIC ORCID; Cordero, Mario D. CSIC ORCID; Sánchez-Alcázar, José Antonio CSIC ORCID ; Santos-Ocaña, Carlos CSIC ORCID ; Navas, Plácido CSIC ORCID | artículo |
| closedAccess |  | 2021 | Mitochondrial Diseases: Theory, Diagnosis and Therapy | Navas, Plácido CSIC ORCID; Salviati, Leonardo | libro |
| openAccess |  | 2014 | Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis | Nguyen, Theresa P. T.; Casarin, Alberto; Desbats, María Andrea; Doimo, Mara; Trevisson, Eva; Santos-Ocaña, Carlos CSIC ORCID ; Navas, Plácido CSIC ORCID; Clarke, Catherine F.; Salviati, Leonardo | artículo |
| closedAccess |  | 2018 | Molecular diagnosis of coenzyme Q10 deficiency: an update | Yubero, Delia; Montero, Raquel; Santos-Ocaña, Carlos CSIC ORCID ; Salviati, Leonardo; Navas, Plácido CSIC ORCID; Artuch, Rafael | artículo |
| openAccess |  | mar-2018 | Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function | Vázquez-Fonseca, Luis; Doimo, Mara; Calderan, Cristina; Desbats, María Andrea; Acosta-López, Manuel J.; Cerqua, Cristina; Cassina, Matteo; Ashraf, Shazia; Hildebrandt, Friedhelm; Sartori, Geppo; Navas, Plácido CSIC ORCID; Trevisson, Eva; Salviati, Leonardo | artículo |
| closedAccess |  | 2015 | Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure | Desbats, María Andrea; Casarin, Alberto; Doimo, Mara; Rodríguez-Hernández, Ángeles CSIC ORCID; Trevisson, Eva; Navas, Plácido CSIC ORCID; Zuffardi, Orsetta; Salviati, Leonardo | artículo |
| closedAccess | | 29-ene-2008 | Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency | Quinzii, Catarina; López, Luis C.; Von-Moltke, Jakob; Naini, Ali; Krishna, Sindu; Schuelke, Markus; Salviati, Leonardo; Navas, Plácido CSIC ORCID; DiMauro, Salvatore; Hirano, Michio | artículo |
