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Browsing by Author Trevisson, Eva

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Issue DateTitleAuthor(s)Type
Feb-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
20-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
2-May-2011COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessHeeringa, Saskia F.; Chernin, Gil; Chaki, Moumita; Zhou, Weibin; Sloan, Alexis J.; Ji, Ziming; Xie, Letian X.; Salviati, Leonardo; Hurd, Toby W.; Vega-Warner, Virginia; Killen, Paul D.; Raphael, Yehoash; Ashraf, Shazia; Ovunc, Bugsu; Schoeb, Dominik S.; McLaughlin, Heather M.; Airik, Rannar; Vlangos, Christopher N.; Gbadegesin, Rasheed; Hinkes, Bernward; Saisawat, Pawaree; Trevisson, Eva; Doimo, Mara; Casarin, Alberto; Pertegato, Vanessa; Giorgi, Gianpietro; Prokisch, Holger; Rötig, Agnès; Nürnberg, Gudrun; Becker, Christian; Wang, Su; Ozaltin, Fatih; Topaloglu, Rezan; Bakkaloglu, Aysin; Bakkaloglu, Sevcan A.; Müller, Dominik; Beissert, Antje; Mir, Sevgi; Berdeli, Afig; ϖzen, Seza; Zenker, Martin; Matejas, Verena; Santos-Ocaña, Carlos; Navas, Plácido; Kusakabe, Takehiro; Kispert, Andreas; Akman, Sema; Soliman, Neveen A.; Krick, Stefanie; Mundel, Peter; Reiser, Jochen; Nürnberg, Peter; Clarke, Catherine F.; Wiggins, Roger C.; Faul, Christian; Hildebrandt, FriedhelmArtículo
18-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
24-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
20-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

Showing results 1 to 6 of 6