Sfoglia per Autore
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
2015 Desbats, Ma; Vetro, A; Limongelli, I; Lunardi, Giada; Casarin, Alberto; Doimo, Mara; Spinazzi, Marco; Angelini, Corrado; Cenacchi, G; Burlina, Alberto; Rodriguez Hernandez, Ma; Chiandetti, Lino; Clementi, Maurizio; Trevisson, Eva; Navas, P; Zuffardi, O; Salviati, Leonardo
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay.
2015 Giorgi, G; Casarin, Alberto; Trevisson, Eva; Donà, M; Cassina, Matteo; Graziano, C; Picci, L; Clementi, Maurizio; Salviati, Leonardo
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis.
2014 Nguyen, Tp; Casarin, Alberto; Desbats, MARIA ANDREA; Doimo, Mara; Trevisson, Eva; Santos Ocaña, C; Navas, P; Clarke, Cf; Salviati, Leonardo
Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency.
2013 Cogliati, S; Frezza, C; SORIANO GARCIA - CUERVA, MARIA EUGENIA; Varanita, T; Quintana Cabrera, R; Corrado, M; Cipolat, S; Costa, V; Casarin, Alberto; Gomes, Lc; Perales Clemente, E; Salviati, Leonardo; Fernandez Silva, P; Enriquez, Ja; Scorrano, Luca
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.
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
Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders.
2011 Spinazzi, M; Casarin, Alberto; Pertegato, V; Ermani, M; Salviati, Leonardo; Angelini, Corrado
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.
Is CFTR 621+3 A > G a cystic fibrosis causing mutation?
2010 Forzan, Monica; Salviati, Leonardo; Pertegato, V; Casarin, Alberto; Bruson, Alice; Trevisson, Eva; DI GIANANTONIO, E; Clementi, Maurizio
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
Gene symbol:ASL. Disease: Argininosuccinate deficiency.
2008 Trevisson, Eva; Salviati, Leonardo; Baldoin, Mc; Casarin, Alberto; Basso, Giuseppe; Burlina, A.
Angelman Syndrome due to a novel splicing mutation of the UBE3A gene.
2008 Sartori, Stefano; Anesi, L; Polli, R; Toldo, Irene; Casarin, Alberto; Drigo, Paola; Murgia, Alessandra
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.
2008 Spinazzi, Marco; Cazzola, S; Bortolozzi, Mario; Baracca, A; Loro, Emanuele; Casarin, Alberto; Solaini, G; Sgarbi, G; Casalena, G; Cenacchi, G; Malena, Adriana; Frezza, C; Carrara, F; Angelini, Corrado; Scorrano, Luca; Salviati, Leonardo; Vergani, L.
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
Molecular analysis of two uncharacterized sequence variants of the VHL gene.
2006 Martella, M; Salviati, Leonardo; Casarin, Alberto; Trevisson, Eva; Opocher, Giuseppe; Polli, R; Gross, D; Murgia, Alessandra
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