SALVIATI, LEONARDO
SALVIATI, LEONARDO
Dipartimento di Salute della Donna e del Bambino - SDB
6q27 subtelomeric deletions: Is there a specific phenotype?
2011 Rigon, C; Salviati, Leonardo; Mandarano, R; Donà, M; Clementi, Maurizio
A case of childhood-onset dystonia-parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation
2023 Garrì, Federica; Ciprietti, Dario; Lerjefors, Lisa; Landi, Andrea; Pilleri, Manuela; Biundo, Roberta; Salviati, Leonardo; Carecchio, Miryam; Antonini, Angelo
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
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.
A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: Are we pointing towards a disease spectrum?
2019 Favaretto, Silvia; Margoni, Monica; Salviati, Leonardo; Pianese, Luigi; Manara, Renzo; Baracchini, Claudio
A novel CRYAB mutation resulting in multisystemic disease.
2012 Sacconi, S; Féasson, L; Antoine, Jc; Pécheux, C; Bernard, R; Cobo, Am; Casarin, A; Salviati, Leonardo; Desnuelle, C; Urtizberea, A.
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.
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.
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis.
2020 Caroppo, Francesca; Cama, ELENA MARIA; Salmaso, Roberto; Bertolin, Cinzia; Salviati, Leonardo; BELLONI FORTINA, Anna
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome
2022 Fumagalli, Monica; Ronchi, Dario; Bedeschi, Maria Francesca; Manini, Arianna; Cristofori, Gloria; Mosca, Fabio; Dilena, Robertino; Sciacco, Monica; Zanotti, Simona; Piga, Daniela; Ardissino, Gianluigi; Triulzi, Fabio; Corti, Stefania; Comi, Giacomo P; Salviati, Leonardo
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome.
2017 Cassina, Matteo; Cerqua, Cristina; Rossi, Silvia; Salviati, Leonardo; Martini, Alessandro; Clementi, Maurizio; Trevisson, Eva
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease
2010 Sacconi, S; Bocquet, Jd; Chanalet, S; Tanant, V; Salviati, Leonardo; Desnuelle, C.
Acute disseminated encephalomyelitis associated with hepatitis C virus infection
2001 Sacconi, S; Salviati, Leonardo; Merelli, E.
Acute quadriplegic myopathy in a 17 month old boy
2000 Salviati, Leonardo; Laverda, ANNA MARIA; Zancan, Lucia; Fanin, Marina; Angelini, Corrado; MEZNARIC PETRUSA, N.
ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency
2019 Vázquez-Fonseca, Luis; Schaefer, Jochen; Navas-Enamorado, Ignacio; Santos-Ocaña, Carlos; Hernández-Camacho, Juan D; Guerra, Ignacio; Cascajo, María V; Sánchez-Cuesta, Ana; Horvath, Zoltan; Siendones, Emilio; Jou, Cristina; Casado, Mercedes; Gutiérrez, Purificación; Brea-Calvo, Gloria; López-Lluch, Guillermo; Fernández-Ayala, Daniel J M; Cortés-Rodríguez, Ana B; Rodríguez-Aguilera, Juan C; Matté, Cristiane; Ribes, Antonia; Prieto-Soler, Sandra Y; Dominguez-Del-Toro, Eduardo; Francesco, Andrea di; Aon, Miguel A; Bernier, Michel; Salviati, Leonardo; Artuch, Rafael; Cabo, Rafael de; Jackson, Sandra; Navas, Plácido
ADCK4 mutations promote steroid-Resistant nephrotic syndrome through CoQ10 biosynthesis disruption
2013 Ashraf, Shazia; Gee, Heon Yung; Woerner, Stephanie; Xie, Letian X.; Vega Warner, Virginia; Lovric, Svjetlana; Fang, Humphrey; Song, Xuewen; Cattran, Daniel C.; Avila Casado, Carmen; Paterson, Andrew D.; Nitschké, Patrick; Bole Feysot, Christine; Cochat, Pierre; Esteve Rudd, Julian; Haberberger, Birgit; Allen, Susan J.; Zhou, Weibin; Airik, Rannar; Otto, Edgar A.; Barua, Moumita; Al Hamed, Mohamed H.; Kari, Jameela A.; Evans, Jonathan; Bierzynska, Agnieszka; Saleem, Moin A.; Böckenhauer, Detlef; Kleta, Robert; Desoky, Sherif El; Hacihamdioglu, Duygu O.; Gok, Faysal; Washburn, Joseph; Wiggins, Roger C.; Choi, Murim; Lifton, Richard P.; Levy, Shawn; Han, Zhe; Salviati, Leonardo; Prokisch, Holger; Williams, David S.; Pollak, Martin; Clarke, Catherine F.; Pei, York; Antignac, Corinne; Hildebrandt, Friedhelm
Adult-onset KMT2B-related dystonia
2022 Monfrini, E.; Ciolfi, A.; Cavallieri, F.; Ferilli, M.; Soliveri, P.; Pedace, L.; Erro, R.; Del Sorbo, F.; Valzania, F.; Fioravanti, V.; Cossu, G.; Pellegrini, M.; Salviati, L.; Invernizzi, F.; Oppo, V.; Murgia, D.; Giometto, B.; Picillo, M.; Garavaglia, B.; Morgante, F.; Tartaglia, M.; Carecchio, M.; Di Fonzo, A.
Age and sex prevalence estimate of Joubert syndrome in Italy.
2020 Nuovo, S; Bacigalupo, I; Ginevrino, M; Battini, R; Bertini, E; Borgatti, R; Casella, A; Micalizzi, A; Nardella, M; Romaniello, R; Serpieri, V; Zanni, G; Valente, Em; Vanacore, N; JS Italian Study Group: Patrizia Accorsi, JS Italian Study Group.; Enrico, Alfei; Elena, Andreucci; Gianluigi, Ardissino; Emanuela, Avola; Rita, Barone; Francesco, Benedicenti; Stefania, Bigoni; Loredana, Boccone; Bonati, Maria T.; Stefania, Bova; Marilena, Briguglio; Silvana, Briuglia; Olga, Calabrese; Gaetano, Cantalupo; Gianluca, Caridi; Monica, Cazzagon; Celle, Maria E.; Cilio, Maria R.; Giangennaro, Coppola; Adele, D’Amico; Stefano, D’Arrigo; Daniele De Brasi, ; Maria Fulvia de Leva, ; Ennio Del Giudice, ; Marilena Carmela Di Giacomo, ; Maria Lucia Di Sabato, ; Bruno, Dallapiccola; Raffaella, Devescovi; Digilio, MARIA CRISTINA; Ilaria, Donati; Donati, Maria A.; Dotti, Maria T.; Francesco, Emma; Antonella, Fabretto; Elisa, Fazzi; Alessandra, Ferlini; Alessandro, Ferraris; Giovanni Battista Ferrero, ; Anna, Ficcadenti; Simona, Fiori; Rita, Fischetto; Elena, Freri; Livia, Garavelli; Mattia, Gentile; Lucio, Giordano; Donatella, Greco; Claudia, Izzi; Vincenzo, Leuzzi; Elisabetta, Lucarelli; Silvia, Majore; Mancardi, Maria M.; Francesca, Mari; Giuseppina, Marra; Laura, Mazzanti; Daniela, Melis; Micaglio, Emanuele; Marisol, Mirabelli-Badenier; Isabella, Moroni; Nardo, Nardocci; Nosadini, Margherita; Simona, Orcesi; Giovanni, Pagani; Chiara, Pantaleoni; Francesco Papadia Papadia, ; Parisi, Pasquale; Maria Grazia Patricelli, ; Cinzia, Peruzzi; Alice, Pessagno; Maria, Piccione; Antonella, Pini; Tiziana, Pisano; Livia, Pisciotta; Marzia, Pollazzon; Francesca, Rivieri; Alfonso, Romano; Corrado, Romano; Salviati, Leonardo; Carmelo Damiano Salpietro, ; Margherita, Santucci; Emanuela, Scarano; Barbara, Scelsa; Alberto, Sensi; Seri, Marco; Sabrina, Signorini; Margherita, Silengo; Simonati, Alessandro; Fabio, Sirchia; Luigina, Spaccini; Franco, Stanzial; Gilda, Stringini; Trevisson, Eva; Antonella, Trivelli; Vera, Uliana; Graziella, Uziel; Gessica, Vasco; Marina, Vascotto; Giuseppina, Vitiello; Federica, Zibordi
Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence
2017 Tezze, Caterina; Romanello, Vanina; Desbats, MARIA ANDREA; Fadini, GIAN PAOLO; Albiero, Mattia; Favaro, Giulia; Ciciliot, Stefano; SORIANO GARCIA - CUERVA, MARIA EUGENIA; Morbidoni, Valeria; Cerqua, Cristina; Loefler, Stefan; Kern, Helmut; Franceschi, Claudio; Salvioli, Stefano; Conte, Maria; Blaauw, Bert; Zampieri, Sandra; Salviati, Leonardo; Scorrano, Luca; Sandri, Marco
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism
2016 Panza, Emanuele; Escamilla Honrubia, Juan M.; Marco Marín, Clara; Gougeard, Nadine; De Michele, Giuseppe; Morra, Vincenzo B. rescia; Liguori, Rocco; Salviati, Leonardo; Donati, Maria A. lice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Németh, Andrea H.; Smithson, Sarah; Davies, Sally; Hurst, Jane A.; Bordo, Domenico; Rubio, Vicente; Seri, Marco