Sfoglia per Autore
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina.
2013 Doimo, Mara; Desbats, Ma; Baldoin, Mc; Lenzini, E; Basso, Giuseppe; Murphy, E; Graziano, C; Seri, M; Burlina, A; Sartori, Geppo; Trevisson, Eva; Salviati, Leonardo
Yeast models for the study of mitochondrial genetic defects and other metabolic disorders
2012 Doimo, Mara
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria
2012 Doimo, Mara; Trevisson, Eva; Sartori, Geppo; Burlina, A; Salviati, Leonardo
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations.
2012 Casarin, Alberto; Giorgi, G; Pertegato, V; Siviero, R; Cerqua, C; Doimo, Mara; Basso, Giuseppe; Sacconi, S; Cassina, Matteo; Rizzuto, Rosario; Brosel, S; Davidson, Mm; Dimauro, S; Schon, Ea; Clementi, Maurizio; Trevisson, Eva; Salviati, Leonardo
Haploinsufficiency of COQ4 causes coenzymeQ10 deficiency
2012 Salviati, Leonardo; Trevisson, Eva; Rodriguez Hernandez, Ma; Casarin, Alberto; Pertegato, V; Doimo, Mara; Cassina, Matteo; Agosto, C; Desbats, Ma; Sartori, Geppo; Sacconi, S; Memo, L; Zuffardi, O; Artuch, R; Quinzii, C; Dimauro, S; Hirano, M; Santos Ocana, C; Navas, P.
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
2011 Heeringa, Sf; Chernin, G; Chaki, M; Zhou, W; Sloan, Aj; Ji, Z; Xie, Lx; Salviati, Leonardo; Hurd, Tw; VEGA WARNER, V; Killen, Pd; Raphael, Y; Ashraf, S; Ovunc, B; Schoeb, Ds; Mclaughlin, Hm; Airik, R; Vlangos, Cn; Gbadegesin, R; Hinkes, B; Saisawat, P; Trevisson, Eva; Doimo, Mara; Casarin, Alberto; Pertegato, V; Giorgi, G; Prokisch, H; Rã–tig, A; Nãœrnberg, G; Becker, C; Wang, S; Ozaltin, F; Topaloglu, R; Bakkaloglu, A; Bakkaloglu, Sa; Mãœller, D; Beissert, A; Mir, S; Berdeli, A; Varpizen, S; Zenker, M; Matejas, V; SANTOS OCAÑA, C; Navas, P; Kusakabe, T; Kispert, A; Akman, S; Soliman, Na; Krick, S; Mundel, P; Reiser, J; Nãœrnberg, P; Clarke, Cf; Wiggins, Rc; Faul, C; Hildebrandt, F.
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple.
2009 Casarin, A; Rusalen, F; Doimo, M; Trevisson, Eva; Carraro, Silvia; Clementi, Maurizio; Tenconi, R; Baraldi, Eugenio; Salviati, Leonardo
Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations
2009 Trevisson, Eva; Burlina, A; Doimo, Mara; Pertegato, V; Casarin, Alberto; Cesaro, Luca; Navas, P; Basso, Giuseppe; Sartori, Geppo; Salviati, Leonardo
Functional characterization of human COQ4, a gene required for Coenzyme Q(10) biosynthesis
2008 Casarin, Alberto; JIMENEZ ORTEGA, Jc; Trevisson, Eva; Pertegato, V; Doimo, Mara; FERRERO GOMEZ, Ml; Abbadi, S; Artuch, R; Quinzii, C; Hirano, M; Basso, Giuseppe; Ocana, Cs; Navas, P; Salviati, Leonardo
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