A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy

por Tavian, Daniela, Maggi, Lorenzo, Mora, Marina, Morandi, Lucia, Bragato, Cinzia, Missaglia, Sara
Publicado 2019

Zebrafish as a Model to Investigate Dynamin 2-Related Diseases

por Bragato, Cinzia, Gaudenzi, Germano, Blasevich, Flavia, Pavesi, Giulio, Maggi, Lorenzo, Giunta, Michele, Cotelli, Franco, Mora, Marina
Publicado 2016

On the In Vitro and In Vivo Hazard Assessment of a Novel Nanomaterial to Reduce the Use of Zinc Oxide in the Rubber Vulcanization Process

por Bragato, Cinzia, Mostoni, Silvia, D’Abramo, Christian, Gualtieri, Maurizio, Pomilla, Francesca Rita, Scotti, Roberto, Mantecca, Paride
Publicado 2022

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

por Ardissone, Anna, Bragato, Cinzia, Caffi, Lorella, Blasevich, Flavia, Maestrini, Sabrina, Bianchi, Maria Luisa, Morandi, Lucia, Moroni, Isabella, Mora, Marina
Publicado 2013

Familial adult-onset Pompe disease associated with unusual clinical and histological features

por MAGGI, LORENZO, SALERNO, FRANCO, BRAGATO, CINZIA, SAREDI, SIMONA, BLASEVICH, FLAVIA, MACCAGNANO, ELIO, PASANISI, BARBARA, DANESINO, CESARE, MORA, MARINA, MORANDI, LUCIA
Publicado 2013

Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease

por Moriggi, Manuela, Capitanio, Daniele, Torretta, Enrica, Barbacini, Pietro, Bragato, Cinzia, Sartori, Patrizia, Moggio, Maurizio, Maggi, Lorenzo, Mora, Marina, Gelfi, Cecilia
Publicado 2021

Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease

por Ruggieri, Alessandra, Naumenko, Sergey, Smith, Martin A., Iannibelli, Eliana, Blasevich, Flavia, Bragato, Cinzia, Gibertini, Sara, Barton, Kirston, Vorgerd, Matthias, Marcus, Katrin, Wang, Peixiang, Maggi, Lorenzo, Mantegazza, Renato, Dowling, James J., Kley, Rudolf A., Mora, Marina, Minassian, Berge A.
Publicado 2020

Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort

por Catteruccia, Michela, Fattori, Fabiana, Codemo, Valentina, Ruggiero, Lucia, Maggi, Lorenzo, Tasca, Giorgio, Fiorillo, Chiara, Pane, Marika, Berardinelli, Angela, Verardo, Margherita, Bragato, Cinzia, Mora, Marina, Morandi, Lucia, Bruno, Claudio, Santoro, Lucio, Pegoraro, Elena, Mercuri, Eugenio, Bertini, Enrico, D’Amico, Adele
Publicado 2013