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
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms
2024 Calderan, Cristina; Sorrentino, Ugo; Persano, Luca; Trevisson, Eva; Sartori, Geppo; Salviati, Leonardo; Desbats, Maria Andrea
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy
2023 Gragnaniello, V.; Gueraldi, D.; Puma, A.; Commone, A.; Cazzorla, C.; Loro, C.; Porcu, E.; Stornaiuolo, M.; Miglioranza, P.; Salviati, L.; Wanders, R. J. A.; Burlina, A.
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.; Alfei, Enrico; Andreucci, Elena; Ardissino, Gianluigi; Avola, Emanuela; Barone, Rita; Benedicenti, Francesco; Bigoni, Stefania; Boccone, Loredana; Bonati, Maria T.; Bova, Stefania; Briguglio, Marilena; Briuglia, Silvana; Calabrese, Olga; Cantalupo, Gaetano; Caridi, Gianluca; Cazzagon, Monica; Celle, Maria E.; Cilio, Maria R.; Coppola, Giangennaro; D’Amico, Adele; D’Arrigo, Stefano; Daniele De Brasi, ; Maria Fulvia de Leva, ; Ennio Del Giudice, ; Marilena Carmela Di Giacomo, ; Maria Lucia Di Sabato, ; Dallapiccola, Bruno; Devescovi, Raffaella; Digilio, MARIA CRISTINA; Donati, Ilaria; Donati, Maria A.; Dotti, Maria T.; Emma, Francesco; Fabretto, Antonella; Fazzi, Elisa; Ferlini, Alessandra; Ferraris, Alessandro; Giovanni Battista Ferrero, ; Ficcadenti, Anna; Fiori, Simona; Fischetto, Rita; Freri, Elena; Garavelli, Livia; Gentile, Mattia; Giordano, Lucio; Greco, Donatella; Izzi, Claudia; Leuzzi, Vincenzo; Lucarelli, Elisabetta; Majore, Silvia; Mancardi, Maria M.; Mari, Francesca; Marra, Giuseppina; Mazzanti, Laura; Melis, Daniela; Micaglio, Emanuele; Mirabelli-Badenier, Marisol; Moroni, Isabella; Nardocci, Nardo; Nosadini, Margherita; Orcesi, Simona; Pagani, Giovanni; Pantaleoni, Chiara; Francesco Papadia Papadia, ; Parisi, Pasquale; Maria Grazia Patricelli, ; Peruzzi, Cinzia; Pessagno, Alice; Piccione, Maria; Pini, Antonella; Pisano, Tiziana; Pisciotta, Livia; Pollazzon, Marzia; Rivieri, Francesca; Romano, Alfonso; Romano, Corrado; Salviati, Leonardo; Carmelo Damiano Salpietro, ; Santucci, Margherita; Scarano, Emanuela; Scelsa, Barbara; Sensi, Alberto; Seri, Marco; Signorini, Sabrina; Silengo, Margherita; Simonati, Alessandro; Sirchia, Fabio; Spaccini, Luigina; Stanzial, Franco; Stringini, Gilda; Trevisson, Eva; Trivelli, Antonella; Uliana, Vera; Uziel, Graziella; Vasco, Gessica; Vascotto, Marina; Vitiello, Giuseppina; Zibordi, Federica