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Browsing by Author Salviati, Leonardo

Showing results 1 to 16 of 16
RightsPreviewIssue DateTitleAuthor(s)Type
closedAccessFeb-2006A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 DeficiencyQuinzii, Catarina; Naini, Ali; Salviati, Leonardo; Trevisson, Eva; Navas, Plácido; DiMauro, Salvatore; Hirano, MichioArtículo
closedAccess20-Mar-2008Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromesMontero, Raquel; Sánchez-Alcázar, José Antonio; Briones, Paz; Rodríguez-Hernández, Ángeles; Cordero, Mario D.; Trevisson, Eva; Salviati, Leonardo; Pineda, Mercé; García-Cazorla, Angels; Navas, Plácido; Artuch, RafaelArtículo
closedAccessaccesoRestringido.pdf.jpg2011Coenzyme Q deficiency in muscleTrevisson, Eva; DiMauro, Salvatore; Navas, Plácido; Salviati, LeonardoArtículo
openAccessCoenzyme_2009.pdf.jpg1-Jan-2009Coenzyme Q deficiency triggers mitochondria degradation by mitophagyRodríguez-Hernández, Ángeles; Cordero, Mario D.; Salviati, Leonardo; Artuch, Rafael; Pineda, Mercé; Briones, Paz; Gómez Izquierdo, Lourdes; Cotán, David; Navas, Plácido; Sánchez-Alcázar, José AntonioArtículo
closedAccess2009Coenzyme Q10 deficiencies in neuromuscular diseasesArtuch, Rafael; Salviati, Leonardo; Jackson, Sandra; Navas, PlácidoCapítulo de libro
closedAccessaccesoRestringido.pdf.jpg2013Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromesMontero, Raquel; Briones, Paz; Artuch, Rafael; Pineda, Mercé; García-Cazorla, Angels; Salviati, Leonardo; Navas, PlácidoArtículo
closedAccess25-Nov-2008Coenzyme Q10 distribution in blood is altered in patients with FibromyalgiaCordero, Mario D.; 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; Salviati, Leonardo; Navas, PlácidoArtículo
openAccessEffectvanillicacid.pdf.jpg2014Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiencyDoimo, Mara; Trevisson, Eva; Santos-Ocaña, Carlos; Hildebrandt, Friedhelm; Navas, Plácido; Salviati, LeonardoArtículo
closedAccess18-May-2008Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesisCasarin, Alberto; Jímenez-Ortega, José Carlos; Trevisson, Eva; Pertegato, Vanessa; Doimo, Mara; Ferrero-Gómez, María Lara; Abbadi, Sara; Artuch, Rafael; Quinzii, Catarina; Hirano, Michio; Basso, Giuseppe; Santos-Ocaña, Carlos; Navas, Plácido; Salviati, LeonardoArtículo
closedAccess24-Aug-2009Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase MutationsTrevisson, Eva; Burlina, Alberto; Doimo, Mara; Pertegato, Vanessa; Casarin, Alberto; Cesaro, Luca; Navas, Plácido; Basso, Giuseppe; Sartori, Geppo; Salviati, LeonardoArtículo
openAccessHaploinsufficiency.pdf.jpg2012Haploinsufficiency of COQ4 causes coenzyme Q10 deficiencySalviati, Leonardo; Trevisson, Eva; Rodríguez-Hernández, Ángeles; Casarin, Alberto; Pertegato, Vanessa; Doimo, Mara; Sartori, Geppo; Artuch, Rafael; Quinzii, Catarina; DiMauro, Salvatore; Hirano, Michio; Santos-Ocaña, Carlos; Navas, PlácidoArtículo
closedAccess20-Mar-2007Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesisLópez-Martín, José M.; Salviati, Leonardo; Trevisson, Eva; Montini, Giovanni; DiMauro, Salvatore; Quinzii, Catarina; Hirano, Michio; Rodríguez-Hernández, Ángeles; Cordero, Mario D.; Sánchez-Alcázar, José Antonio; Santos-Ocaña, Carlos; Navas, PlácidoArtículo
openAccesshuman COQ5.pdf.jpg2014Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesisNguyen, Theresa P. T.; Casarin, Alberto; Desbats, Maria Andrea; Doimo, Mara; Trevisson, Eva; Santos-Ocaña, Carlos; Navas, Plácido; Clarke, Catherine F.; Salviati, LeonardoArtículo
closedAccessaccesoRestringido.pdf.jpg2015Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failureDesbats, Maria Andrea; Casarin, Alberto; Doimo, Mara; Rodríguez-Hernández, Ángeles; Trevisson, Eva; Navas, Plácido; Zuffardi, Orsetta; Salviati, LeonardoArtículo
closedAccess29-Jan-2008Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiencyQuinzii, Catarina; López, Luis C.; Von-Moltke, Jakob; Naini, Ali; Krishna, Sindu; Schuelke, Markus; Salviati, Leonardo; Navas, Plácido; DiMauro, Salvatore; Hirano, MichioArtículo
openAccessSurvival transcriptome.pdf.jpg2013Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficienciesFernández-Ayala, Daniel J. M.; Guerra, Ignacio; Jiménez-Gancedo, Sandra; Cascajo, Maria V.; Gavilán, Angela; DiMauro, Salvatore; Hirano, Michio; Briones, Paz; Artuch, Rafael; Cabo, Rafael de; Salviati, Leonardo; Navas, PlácidoArtículo