TREVISSON, EVA
TREVISSON, EVA
Dipartimento di Salute della Donna e del Bambino - SDB
Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency
2025 Alcázar-Fabra, María; Østergaard, Elsebet; Fernández-Ayala, Daniel J. M.; Desbats, Maria Andrea; Morbidoni, Valeria; Tomás-Gallado, Laura; García-Corzo, Laura; Blanquer-Roselló, María del Mar; Bartlett, Abigail K.; Sánchez-Cuesta, Ana; Sena, Lucía; Cortés-Rodríguez, Ana; Cascajo-Almenara, María Victoria; Pagliarini, David J.; Trevisson, Eva; Gronborg, Sabine W.; Brea-Calvo, Gloria
A Misdiagnosed Familiar Brooke-Spiegler Syndrome: Case Report and Review of the Literature
2024 Brambullo, Tito; De Lazzari, Alberto; Franchi, Arianna; Trevisson, Eva; Garau, Maria Luisa; Scarmozzino, Federico; Vindigni, Vincenzo; Bassetto, Franco
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
C16ORF70/Mytho promotes healthy ageing in C. elegans and prevents cellular senescence in mammals
2024 Franco-Romero, Anais; Morbidoni, Valeria; Milan, Giulia; Sartori, Roberta; Wulff, Jesper; Romanello, Vanina; Armani, Andrea; Salviati, Leonardo; Conte, Maria; Salvioli, Stefano; Franceschi, Claudio; Buonomo, Viviana; Swoboda, Casey O.; Grumati, Paolo; Pannone, Luca; Martinelli, Simone; Jefferies, Harold B. J.; Dikic, Ivan; van der Laan, Jennifer; Cabreiro, Filipe; Millay, Douglas P.; Tooze, Sharon A.; Trevisson, Eva; Sandri, Marco
COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells
2024 Pelosi, Ludovic; Morbiato, Laura; Burgardt, Arthur; Tonello, Fiorella; Bartlett, Abigail K.; Guerra, Rachel M.; Kazemzadeh Ferizhendi, Katayoun; Desbats, MARIA ANDREA; Rascalou, Bérengère; Marchi, Marco; Vázquez-Fonseca, Luis; Agosto, Caterina; Zanotti, Giuseppe; Roger-Margueritat, Morgane; Alcázar-Fabra, María; García-Corzo, Laura; Sánchez-Cuesta, Ana; Navas, Plácido; Brea-Calvo, Gloria; Trevisson, Eva; Wendisch, Volker F.; Pagliarini, David J.; Salviati, Leonardo; Pierrel, Fabien
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
2024 Mastromoro, G.; Santoro, C.; Motta, M.; Sorrentino, U.; Daniele, P.; Peduto, C.; Petrizzelli, F.; Tripodi, M.; Pinna, V.; Zanobio, M.; Rotundo, G.; Bellacchio, E.; Lepri, F.; Farina, A.; D'Asdia, M. C.; Piceci-Sparascio, F.; Biagini, T.; Petracca, A.; Castori, M.; Melis, D.; Accadia, M.; Traficante, G.; Tarani, L.; Fontana, P.; Sirchia, F.; Paparella, R.; Curro, A.; Benedicenti, F.; Scala, I.; Dentici, M. L.; Leoni, C.; Trevisan, V.; Cecconi, A.; Giustini, S.; Pizzuti, A.; Salviati, L.; Novelli, A.; Zampino, G.; Zenker, M.; Genuardi, M.; Digilio, M. C.; Papi, L.; Perrotta, S.; Nigro, V.; Castellanos, E.; Mazza, T.; Trevisson, E.; Tartaglia, M.; Piluso, G.; De Luca, A.
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
2024 Dentici, M. L.; Niceta, M.; Lepri, F. R.; Mancini, C.; Priolo, M.; Bonnard, A. A.; Cappelletti, C.; Leoni, C.; Ciolfi, A.; Pizzi, S.; Cordeddu, V.; Rossi, C.; Ferilli, M.; Mucciolo, M.; Colona, V. L.; Fauth, C.; Bellini, M.; Biasucci, G.; Sinibaldi, L.; Briuglia, S.; Gazzin, A.; Carli, D.; Memo, L.; Trevisson, E.; Schiavariello, C.; Luca, M.; Novelli, A.; Michot, C.; Sweertvaegher, A.; Germanaud, D.; Scarano, E.; De Luca, A.; Zampino, G.; Zenker, M.; Mussa, A.; Dallapiccola, B.; Cave, H.; Digilio, M. C.; Tartaglia, M.
Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX
2024 Rossini, L.; Bonardi, C. M.; Bresolin, S.; Trevisson, E.; Marzollo, A.
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
2024 Wood, K. A.; Tong, R. S.; Motta, M.; Cordeddu, V.; Scimone, E. R.; Bush, S. J.; Maxwell, D. W.; Giannoulatou, E.; Caputo, V.; Traversa, A.; Mancini, C.; Ferrero, G. B.; Benedicenti, F.; Grammatico, P.; Melis, D.; Steindl, K.; Brunetti-Pierri, N.; Trevisson, E.; Wilkie, A. O.; Lin, A. E.; Cormier-Daire, V.; Twigg, S. R.; Tartaglia, M.; Goriely, A.
Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis
2024 Melfi, V.; Mohamed, T.; Colciago, A.; Fasciani, A.; De Francesco, R.; Bettio, D.; Cerqua, C.; Boaretto, F.; Basso, E.; Ferraresi, S.; Montini, M.; Eoli, M.; Papi, L.; Trevisson, E.; Magnaghi, V.
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
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.
The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation
2022 VECELLIO REANE, Denis; Cerqua, Cristina; Sacconi, Sabrina; Salviati, Leonardo; Trevisson, Eva; Raffaello, Anna
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
2022 Plotkin, S. R.; Messiaen, L.; Legius, E.; Pancza, P.; Avery, R. A.; Blakeley, J. O.; Babovic-Vuksanovic, D.; Ferner, R.; Fisher, M. J.; Friedman, J. M.; Giovannini, M.; Gutmann, D. H.; Hanemann, C. O.; Kalamarides, M.; Kehrer-Sawatzki, H.; Korf, B. R.; Mautner, V. -F.; Maccollin, M.; Papi, L.; Rauen, K. A.; Riccardi, V.; Schorry, E.; Smith, M. J.; Stemmer-Rachamimov, A.; Stevenson, D. A.; Ullrich, N. J.; Viskochil, D.; Wimmer, K.; Yohay, K.; Anten, M.; Aylsworth, A.; Baralle, D.; Barbarot, S.; Barker, F.; Ben-Shachar, S.; Bergner, A.; Bessis, D.; Blanco, I.; Cassiman, C.; Ciavarelli, P.; Clementi, M.; Frebourg, T.; Gomes, A.; Halliday, D.; Helen Hanson Arvid Heiberg, C. H.; Joly, P.; Jordan, J. T.; Karajannis, M.; Kroshinsky, D.; Larralde, M.; Lazaro, C.; Le, L.; Link, M.; Listernick, R.; Mallucci, C.; Merker, V. L.; Moertel, C.; Mueller, A.; Ngeow, J.; Oostenbrink, R.; Packer, R.; Parry, A.; Peltonen, J.; Pichard, D.; Poppe, B.; Rezende, N.; Rodrigues, L. O.; Rosser, T.; Ruggieri, M.; Serra, E.; Steinke-Lange, V.; Stivaros, S. M.; Taylor, A.; Toelen, J.; Tonsgard, J.; Trevisson, E.; Upadhyaya, M.; Varan, A.; Wilson, M.; Wu, H.; Zadeh, G.; Huson, S. M.; Wolkenstein, P.; Evans, D. G.
Coenzyme Q Biosynthesis Disorders
2021 Brea-Calvo, Gloria; Alcázar-Fabra, María; Trevisson, Eva; Navas, Plácido
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature
2021 Sorrentino, U; Piccolo, C; Rigon, C; Brasson, V; Trevisson, E; Boaretto, F; Martini, A; Cassina, M
Epilepsy in NF1: Epidemiologic, genetic, and clinical features. a monocentric retrospective study in a cohort of 784 patients
2021 Sorrentino, U.; Bellonzi, S.; Mozzato, C.; Brasson, V.; Toldo, I.; Parrozzani, R.; Clementi, M.; Cassina, M.; Trevisson, E.
Hybrid minigene assay: An efficient tool to characterize mrna splicing profiles of nf1 variants
2021 Morbidoni, V.; Baschiera, E.; Forzan, M.; Fumini, V.; Ali, D. S.; Giorgi, G.; Buson, L.; Desbats, M. A.; Cassina, M.; Clementi, M.; Salviati, L.; Trevisson, E.
Integrated cgh/wes analyses advance understanding of aggressive neuroblastoma evolution: A case study
2021 Corallo, D.; Zanon, C.; Pantile, M.; Tonini, G. P.; Zin, A.; Francescato, S.; Rossi, B.; Trevisson, E.; Pinato, C.; Monferrer, E.; Noguera, R.; Alino, S. F.; Herrero, M. J.; Biffi, A.; Viscardi, E.; Aveic, S.
Mutations in Assembly Factors Required for the Biogenesis of Mitochondrial Respiratory Chain
2021 Cerqua, Cristina; Buson, Lisa; Trevisson, Eva