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Browsing by Author DiMauro, Salvatore

Showing results 1 to 6 of 6
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
closedAccessaccesoRestringido.pdf.jpg2011Coenzyme Q deficiency in muscleTrevisson, Eva; DiMauro, Salvatore; Navas, Plácido; 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
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