TREVISSON, EVA
TREVISSON, EVA
Dipartimento di Salute della Donna e del Bambino - SDB
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly
2005 Sacconi, S; Trevisson, Eva; Pistollato, F; Baldoin, Mc; Rezzonico, R; Bourget, I; Desnuelle, C; Tenconi, Romano; Basso, Giuseppe; Dimauro, S; Salviati, Leonardo
Characterization of the 5 ' region of human CoQ2, a gene causing primary CoQ10 deficiency
2006 Trevisson, Eva; Baldoin, Mc; LOPEZ MARTIN, Jm; SANTOS OCANA, C; 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
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency.
2006 Quinzii, C; Naini, A; Salviati, Leonardo; Trevisson, Eva; Navas, P; Dimauro, S; Hirano, M.
CREB e ICER: Nuovi regolatori dell'espressione genica dipendente dall'AMP ciclico nella leucemia acuta pediatrica.
2006 Pigazzi, Martina; E., Ricotti; Manara, Elena; Trevisson, Eva; Baldoin, M. C.; Salviati, Leonardo; Basso, Giuseppe
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis
2007 LOPEZ MARTIN, Jm; Salviati, Leonardo; Trevisson, Eva; Montini, G; Dimauro, S; Quinzii, C; Hirano, M; RODRIGUEZ HERNANDEZ, A; Cordero, Md; SANCHEZ ALCAZAR, Ja; SANTOS OCANA, C; Navas, P.
A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease
2007 Salviati, Leonardo; Trevisson, Eva; BALDOIN M., C; Toldo, Irene; Sartori, S; Calderone, M; Tenconi, Romano; Laverda, A. M.
Argininosuccinate lyase deficiency: Mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
2007 Trevisson, Eva; Salviati, Leonardo; Baldoin, Mc; Toldo, Irene; Casarin, A; Sacconi, S; Cesaro, L; Basso, Giuseppe; Burlina, A.
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene.
2008 Sartori, S; BURLINA A., B; Salviati, Leonardo; Trevisson, Eva; Toldo, Irene; LAVERDA A., M; Burlina, A. P.
Analysis of Coenzyme Q(10) in muscle and fibroblasts for the diagnosis of CoQ(10) deficiency syndromes
2008 Montero, R; SANCHEZ ALCAZAR, Ja; Briones, P; Hernandez, Ar; Cordero, Md; Trevisson, Eva; Salviati, Leonardo; Pineda, M; GARCIA CAZORLA, A; Navas, P; Artuch, R.
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability
2008 Dimmer, Ks; Navoni, F; Casarin, A; Trevisson, Eva; Endele, S; Winterpacht, A; Salviati, Leonardo; Scorrano, Luca
A functionally dominant mitochondrial DNA mutation
2008 Sacconi, S; Salviati, Leonardo; Nishigaki, Y; Walker, Wf; HERNANDEZ ROSA, E; Trevisson, Eva; Delplace, S; Desnuelle, C; Shanske, S; Hirano, M; Schon, Ea; Bonilla, E; DE VIVO, Dc; Dimauro, S; Davidson, Mm
Gene symbol:ASL. Disease: Argininosuccinate deficiency.
2008 Trevisson, Eva; Salviati, Leonardo; Baldoin, Mc; Casarin, Alberto; Basso, Giuseppe; Burlina, A.
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
Genetic bases and experimental models for the study of inherited metabolic diseases
2008 Trevisson, Eva
Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.
2009 Sacconi, S; Salviati, Leonardo; Trevisson, Eva
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
OPA1 and Its Clinical Implications
2009 Trevisson, Eva; Salviati, Leonardo; Scorrano, Luca
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
The Conserved Mitochondrial Twin Cx(9)C Protein Cmc2 Is a Cmc1 Homologue Essential for Cytochrome c Oxidase Biogenesis
2010 Horn, D; Zhou, W; Trevisson, Eva; AL ALI, H; Harris, Tk; Salviati, Leonardo; Barrientos, A.