SALVIATI, LEONARDO
SALVIATI, LEONARDO
Dipartimento di Salute della Donna e del Bambino - SDB
Diencephalic Syndrome and Disseminated Juvenile Pilocytic Asrocytomas of the Hyptholamic- Optic Chiasm Region
1997 Perilongo, Giorgio; C., Carollo; Salviati, Leonardo; Murgia, Alessandra; M., Pillon; C., Basso; M., Gardiman; Laverda, ANNA MARIA
Acute quadriplegic myopathy in a 17 month old boy
2000 Salviati, Leonardo; Laverda, ANNA MARIA; Zancan, Lucia; Fanin, Marina; Angelini, Corrado; MEZNARIC PETRUSA, N.
Acute disseminated encephalomyelitis associated with hepatitis C virus infection
2001 Sacconi, S; Salviati, Leonardo; Merelli, E.
Mitochondrial DNA depletion and dGK gene mutations
2002 Salviati, Leonardo; Sacconi, S; Mancuso, M; Otaegui, D; Camano, P; Marina, A; Rabinowitz, S; Shiffman, R; Thompson, K; Wilson, Cm; Feigenbaum, A; Naini, Ab; Hirano, M; Bonilla, E; Dimauro, S; Vu, T. H.
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA
2002 Sacconi, S; Salviati, Leonardo; Gooch, C; Bonilla, E; Shanske, S; Dimauro, S.
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA
2002 Karadimas, Cl; Salviati, Leonardo; Sacconi, S; Chronopoulou, P; Shanske, S; Bonilla, E; DE VIVO, Dc; Dimauro, S.
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations
2002 Salviati, Leonardo; HERNANDEZ ROSA, E; Walker, Wf; Sacconi, S; Dimauro, S; Schon, Ea; Davidson, M. M.
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease
2002 Salviati, Leonardo; Sacconi, S; Rasalan, Mm; Kronn, Df; Braun, A; Canoll, P; Davidson, M; Shanske, S; Bonilla, E; Hays, Ap; Schon, Ea; Dimauro, S.
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA
2002 Mancuso, M; Salviati, Leonardo; Sacconi, S; Otaegui, D; Camano, P; Marina, A; Bacman, S; Moraes, Ct; Carlo, Jr; Garcia, M; GARCIA ALVAREZ, M; Monzon, L; Naini, Ab; Hirano, M; Bonilla, E; Taratuto, Al; Dimauro, S; Vu, T. H.
Lo splicing alternativo della proteina che ancora la CaMKII al reticolo sarcoplasmatico e’ regolato dallo stadio di sviluppo e dall’innervazione motoria del muscolo
2003 Salviati, Leonardo; Damiani, Ernesto; Margreth, Alfredo
Two splice variants of CaMKII-anchoring protein are present in the sarcoplasmic reticulum of rabbit fast-twitch muscle
2003 Damiani, Ernesto; Sacchetto, Roberta; Salviati, Leonardo; Margreth, A.
Mutation screening in patients with isolated cytochrome c oxidase deficiency
2003 Sacconi, S; Salviati, Leonardo; Sue, Cm; Shanske, S; Davidson, Mm; Bonilla, E; Naini, Ab; DE VIVO, Dc; Dimauro, S.
Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome
2004 Salviati, Leonardo; Freehauf, C; Sacconi, S; Dimauro, S; Thoma, J; Tsai, A. C.
Post-natal developmental expression of alphaKAP splice variants in rabbit fast-twitch and slow-twitch skeletal muscle
2004 Sacchetto, Roberta; Salviati, Leonardo; Damiani, Ernesto; Margreth, Alfredo
Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation
2004 Rabinowitz, Ss; Gelfond, D; Chen, Ck; Gloster, Es; Whitington, Pf; Sacconi, S; Salviati, Leonardo; Dimauro, S.
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
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition
2005 Salviati, Leonardo; Sacconi, S; Murer, L; Zacchello, G; Franceschini, L; Laverda, Am; Basso, Giuseppe; Quinzii, C; Angelini, Corrado; Hirano, M; Naini, Ab; Navas, P; Dimauro, S; Montini, G.
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
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
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.