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Browsing by Author Casarin, Alberto

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RightsPreviewIssue DateTitleAuthor(s)Type
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
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, Plácido artículo
openAccesshuman COQ5.pdf.jpg2014Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesisNguyen, Theresa P. T.; Casarin, Alberto; Desbats, María 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, María Andrea; Casarin, Alberto; Doimo, Mara; Rodríguez-Hernández, Ángeles ; Trevisson, Eva; Navas, Plácido ; Zuffardi, Orsetta; Salviati, Leonardoartículo