Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1

by Tasca, Giorgio, D'Amico, Adele, Monforte, Mauro, Nadaj-Pakleza, Aleksandra, Vialle, Marc, Fattori, Fabiana, Vissing, John, Ricci, Enzo, Bertini, Enrico
Published 2015

Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture

by Romano, Alessandro, Tessa, Alessandra, Barca, Amilcare, Fattori, Fabiana, Fulvia de Leva, Maria, Terracciano, Alessandra, Storelli, Carlo, Santorelli, Filippo Maria, Verri, Tiziano
Published 2013

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

by 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
Published 2013

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

by Savarese, Marco, Musumeci, Olimpia, Giugliano, Teresa, Rubegni, Anna, Fiorillo, Chiara, Fattori, Fabiana, Torella, Annalaura, Battini, Roberta, Rodolico, Carmelo, Pugliese, Aniello, Piluso, Giulio, Maggi, Lorenzo, D'Amico, Adele, Bruno, Claudio, Bertini, Enrico, Santorelli, Filippo Maria, Mora, Marina, Toscano, Antonio, Minetti, Carlo, Nigro, Vincenzo
Published 2016