Mostrando resultados 13 a 24 de 24
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Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
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 |
closedAccess | | 2016 | Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content | Asencio, Claudio CSIC; Briones, Paz CSIC; Gavilán, Angela; Yubero, Delia; Montero, Raquel; Pineda, Mercé; Alcázar-Fabra, María CSIC ORCID; Salviati, Leonardo; Artuch, Rafael; Navas, Plácido CSIC ORCID | artículo |
openAccess | | 2013 | Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies | Fernández-Ayala, Daniel J. M.; Guerra, Ignacio CSIC; Jiménez-Gancedo, Sandra CSIC; Cascajo Almenara, M. V. CSIC ORCID; Gavilán, Angela; DiMauro, Salvatore; Hirano, Michio; Briones, Paz CSIC; Artuch, Rafael; Cabo, Rafael de; Salviati, Leonardo; Navas, Plácido CSIC ORCID | artículo |
closedAccess | | 2016 | The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency | Desbats, María Andrea; Doimo, Mara; Navas, Plácido CSIC ORCID; Salviati, Leonardo; Trevisson, Eva | artículo |
openAccess | | 10-jul-2019 | Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6 | Acosta-López, Manuel J.; Trevisson, Eva; Canton, Marcella; Vázquez-Fonseca, Luis; Morbidoni, Valeria; Baschiera, Elisa; Frasson, Chiara; Ludovic, Pelosi; Rascalou, Bérengère; Desbats, María Andrea; Alcázar-Fabra, María CSIC ORCID; Ríos, José Julián; Sánchez-García, Alicia CSIC ORCID; Basso, Giuseppe; Navas, Plácido CSIC ORCID; Pierrel, Fabien; Brea-Calvo, Gloria CSIC ORCID; Salviati, Leonardo | artículo |