Mostrando resultados 3 a 15 de 15
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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | jul-2018 | Clinical syndromes associated with Coenzyme Q10 deficiency | Alcázar-Fabra, María CSIC ORCID; Trevisson, Eva; Brea-Calvo, Gloria CSIC ORCID | artículo de revisión |
| closedAccess |  | 2011 | Coenzyme Q deficiency in muscle | Trevisson, Eva; DiMauro, Salvatore; Navas, Plácido CSIC ORCID; Salviati, Leonardo | 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 |
| 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 |
| 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 |
| openAccess |  | 1-may-2021 | Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations | Alcázar-Fabra, María CSIC ORCID; Rodríguez-Sánchez, Francisco CSIC ORCID; Trevisson, Eva; Brea-Calvo, Gloria CSIC ORCID | 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 |  | 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 |
