Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D

by Bianchini, Elisa, Fanin, Marina, Mamchaoui, Kamel, Betto, Romeo, Sandonà, Dorianna
Published 2014

GYG1 gene mutations in a family with polyglucosan body myopathy

by Fanin, Marina, Torella, Annalaura, Savarese, Marco, Nigro, Vincenzo, Angelini, Corrado
Published 2015

Analysis of malignant hyperthermia results in Padua and Siena

by Tegazzin, Vincenzo, Orrico, Alfredo, Galli, Lucia, Fanin, Marina, Rossi, Daniela
Published 2014

Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy

by ANGELINI, CORRADO, TASCA, ELISABETTA, NASCIMBENI, ANNA CHIARA, FANIN, MARINA
Published 2014

S2.1 Enzyme replacement therapy (ERT) in Glycogen Storage Disease Type II: the first treatment developed

by Angelini, Corrado, Semplicini, Claudio, Fanin, Marina, Nascimbeni, Annachiara, Peterle, Enrico, Pegoraro, Elena
Published 2011

Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results

by Giugliano, Teresa, Fanin, Marina, Savarese, Marco, Piluso, Giulio, Angelini, Corrado, Nigro, Vincenzo
Published 2016

Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for “...

by Ricci, Giulia, Scionti, Isabella, Alì, Greta, Volpi, Leda, Zampa, Virna, Fanin, Marina, Angelini, Corrado, Politano, Luisa, Tupler, Rossella, Siciliano, Gabriele
Published 2012

Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies

by Bello, Luca, Campadello, Paola, Barp, Andrea, Fanin, Marina, Semplicini, Claudio, Sorarù, Gianni, Caumo, Luca, Calore, Chiara, Angelini, Corrado, Pegoraro, Elena
Published 2016

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

by Cacciottolo, Mafalda, Numitone, Gelsomina, Aurino, Stefania, Caserta, Imma Rosaria, Fanin, Marina, Politano, Luisa, Minetti, Carlo, Ricci, Enzo, Piluso, Giulio, Angelini, Corrado, Nigro, Vincenzo
Published 2011

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

by Torella, Annalaura, Fanin, Marina, Mutarelli, Margherita, Peterle, Enrico, Del Vecchio Blanco, Francesca, Rispoli, Rossella, Savarese, Marco, Garofalo, Arcomaria, Piluso, Giulio, Morandi, Lucia, Ricci, Giulia, Siciliano, Gabriele, Angelini, Corrado, Nigro, Vincenzo
Published 2013