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Browsing by Author Hirano, Michio

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Showing results 1 to 8 of 8
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.jpg30-Sep-2014Fhl1 W122S causes loss of protein function and late-onset mild myopathyEmmanuele, Valentina; Sánchez-Gutiérrez, Daniel ; Escudero, Luis M. ; Hirano, Michioartículo
closedAccess18-May-2008Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesisCasarin, Alberto; Jiménez-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
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, Plácido artículo
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, Plácido artículo
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 Almenara, M. V. ; Gavilán, Angela; DiMauro, Salvatore; Hirano, Michio; Briones, Paz; Artuch, Rafael; Cabo, Rafael de; Salviati, Leonardo; Navas, Plácido artículo
closedAccessaccesoRestringido.pdf.jpg2014Thymidine phosphorylase participates in platelet signaling and promotes thrombosisLi, Wei; Gigante, Alba ; Peréz-Pérez, María-Jesús ; Yue, H.; Hirano, Michio; McIntyre, T. M.; Silverstein, R. L.artículo