TREVISSON, EVA
TREVISSON, EVA
Dipartimento di Salute della Donna e del Bambino - SDB
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 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 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
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
Alport syndrome: impact of digenic inheritance in patients management.
2017 Fallerini, C; Baldassarri, M; Trevisson, Eva; Morbidoni, Valeria; La Manna, A; Lazzarin, R; Pasini, A; Barbano, G; Pinciaroli, Ar; Garosi, G; Frullanti, E; Pinto, Am; Mencarelli, Ma; Mari, F; Renieri, A; Ariani, F. .
Ambra1 deficiency impairs mitophagy in skeletal muscle
2022 Gambarotto, Lisa; Metti, Samuele; Chrisam, Martina; Cerqua, Cristina; Sabatelli, Patrizia; Armani, Andrea; Zanon, Carlo; Spizzotin, Marianna; Castagnaro, Silvia; Strappazzon, Flavie; Grumati, Paolo; Cescon, Matilde; Braghetta, Paola; Trevisson, Eva; Cecconi, Francesco; Bonaldo, Paolo
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.
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.
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy
2020 Morbidoni, V.; Agolini, E.; Slep, K. C.; Pannone, L.; Zuccarello, D.; Cassina, M.; Grosso, E.; Gai, G.; Salviati, L.; Dallapiccola, B.; Novelli, A.; Martinelli, S.; Trevisson, E.
Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study
2019 Evans, D Gareth R; Kallionpää, Roope A; Clementi, Maurizio; Trevisson, Eva; Mautner, Victor-Felix; Howell, Sacha J; Lewis, Lauren; Zehou, Ouidad; Peltonen, Sirkku; Brunello, Antonella; Harkness, Elaine F; Wolkenstein, Pierre; Peltonen, Juha
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
Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study
2022 Cosmo, E.; Frizziero, L.; Miglionico, G.; De Biasi, C. S.; Bruno, M.; Trevisson, E.; Gabbiato, I.; Midena, G.; Parrozzani, R.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
2020 Koczkowska, M.; Callens, T.; Chen, Y.; Gomes, A.; Hicks, A. D.; Sharp, A.; Johns, E.; Uhas, K. A.; Armstrong, L.; Bosanko, K. A.; Babovic-Vuksanovic, D.; Baker, L.; Basel, D. G.; Bengala, M.; Bennett, J. T.; Chambers, C.; Clarkson, L. K.; Clementi, M.; Cortes, F. M.; Cunningham, M.; D'Agostino, M. D.; Delatycki, M. B.; Digilio, M. C.; Dosa, L.; Esposito, S.; Fox, S.; Freckmann, M. -L.; Fauth, C.; Giugliano, T.; Giustini, S.; Goetsch, A.; Goldberg, Y.; Greenwood, R. S.; Griffis, C.; Gripp, K. W.; Gupta, P.; Haan, E.; Hachen, R. K.; Haygarth, T. L.; Hernandez-Chico, C.; Hodge, K.; Hopkin, R. J.; Hudgins, L.; Janssens, S.; Keller, K.; Kelly-Mancuso, G.; Kochhar, A.; Korf, B. R.; Lewis, A. M.; Liebelt, J.; Lichty, A.; Listernick, R. H.; Lyons, M. J.; Maystadt, I.; Martinez Ojeda, M.; Mcdougall, C.; Mcgregor, L. K.; Melis, D.; Mendelsohn, N.; Nowaczyk, M. J. M.; Ortenberg, J.; Panzer, K.; Pappas, J. G.; Pierpont, M. E.; Piluso, G.; Pinna, V.; Pivnick, E. K.; Pond, D. A.; Powell, C. M.; Rogers, C.; Ruhrman Shahar, N.; Rutledge, S. L.; Saletti, V.; Sandaradura, S. A.; Santoro, C.; Schatz, U. A.; Schreiber, A.; Scott, D. A.; Sellars, E. A.; Sheffer, R.; Siqveland, E.; Slopis, J. M.; Smith, R.; Spalice, A.; Stockton, D. W.; Streff, H.; Theos, A.; Tomlinson, G. E.; Tran, G.; Trapane, P. L.; Trevisson, E.; Ullrich, N. J.; Van den Ende, J.; Schrier Vergano, S. A.; Wallace, S. E.; Wangler, M. F.; Weaver, D. D.; Yohay, K. H.; Zackai, E.; Zonana, J.; Zurcher, V.; Claes, K. B. M.; Eoli, M.; Martin, Y.; Wimmer, K.; De Luca, A.; Legius, E.; Messiaen, L. M.
Clinical syndromes associated with Coenzyme Q10 deficiency.
2018 Alcázar-Fabra, Maria; Trevisson, Eva; Brea-Calvo, Gloria
Coenzyme Q biosynthesis in health and disease
2016 Acosta, Manuel Jesús; Vazquez Fonseca, Luis; Desbats, MARIA ANDREA; Cerqua, Cristina; Zordan, Roberta; Trevisson, Eva; Salviati, Leonardo
Coenzyme Q deficiency in muscle
2011 Trevisson, Eva; Salvatore, Dimauro; Placido, Navas; Salviati, Leonardo
Coenzyme Q(10) is frequently reduced in muscle of patients with mitochondrial myopathy
2010 Sacconi, S; Trevisson, Eva; Salviati, Leonardo; Ayme, S; Rigal, O; Redondo, Ag; Mancuso, M; Siciliano, G; Tonin, P; Angelini, Corrado; Aure, K; Lombes, A; Desnuelle, C.
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
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.