Transcriptional and Translational Effects of Intronic CAPN3 Gene Mutations

por Nascimbeni, Anna Chiara, Fanin, Marina, Tasca, Elisabetta, Angelini, Corrado
Publicado 2010

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

por ANGELINI, CORRADO, TASCA, ELISABETTA, NASCIMBENI, ANNA CHIARA, FANIN, MARINA
Publicado 2014

Autophagy dysregulation in Danon disease

por Nascimbeni, Anna Chiara, Fanin, Marina, Angelini, Corrado, Sandri, Marco
Publicado 2017

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

por Bianchini, Elisa, Fanin, Marina, Mamchaoui, Kamel, Betto, Romeo, Sandonà, Dorianna
Publicado 2014

Analysis of malignant hyperthermia results in Padua and Siena

por Tegazzin, Vincenzo, Orrico, Alfredo, Galli, Lucia, Fanin, Marina, Rossi, Daniela
Publicado 2014

GYG1 gene mutations in a family with polyglucosan body myopathy

por Fanin, Marina, Torella, Annalaura, Savarese, Marco, Nigro, Vincenzo, Angelini, Corrado
Publicado 2015

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

por Angelini, Corrado, Semplicini, Claudio, Fanin, Marina, Nascimbeni, Annachiara, Peterle, Enrico, Pegoraro, Elena
Publicado 2011

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

por Giugliano, Teresa, Fanin, Marina, Savarese, Marco, Piluso, Giulio, Angelini, Corrado, Nigro, Vincenzo
Publicado 2016

Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy

por Millino, Caterina, Fanin, Marina, Vettori, Andrea, Laveder, Paolo, Mostacciuolo, Maria Luisa, Angelini, Corrado, Lanfranchi, Gerolamo
Publicado 2009

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 “...

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

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

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

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

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

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

por 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
Publicado 2013

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

por Giugliano, Teresa, Savarese, Marco, Garofalo, Arcomaria, Picillo, Esther, Fiorillo, Chiara, D’Amico, Adele, Maggi, Lorenzo, Ruggiero, Lucia, Vercelli, Liliana, Magri, Francesca, Fattori, Fabiana, Torella, Annalaura, Ergoli, Manuela, Rubegni, Anna, Fanin, Marina, Musumeci, Olimpia, Bleecker, Jan De, Peverelli, Lorenzo, Moggio, Maurizio, Mercuri, Eugenio, Toscano, Antonio, Mora, Marina, Santoro, Lucio, Mongini, Tiziana, Bertini, Enrico, Bruno, Claudio, Minetti, Carlo, Comi, Giacomo Pietro, Santorelli, Filippo Maria, Angelini, Corrado, Politano, Luisa, Piluso, Giulio, Nigro, Vincenzo
Publicado 2018

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

por Astrea, Guja, Romano, Alessandro, Angelini, Corrado, Antozzi, Carlo Giuseppe, Barresi, Rita, Battini, Roberta, Battisti, Carla, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, Fanin, Marina, Fattori, Fabiana, Fiorillo, Chiara, Guerrini, Renzo, Maggi, Lorenzo, Mercuri, Eugenio, Morani, Federica, Mora, Marina, Moro, Francesca, Pezzini, Ilaria, Picillo, Esther, Pinelli, Michele, Politano, Luisa, Rubegni, Anna, Sanseverino, Walter, Savarese, Marco, Striano, Pasquale, Torella, Annalaura, Trevisan, Carlo Pietro, Trovato, Rosanna, Zaraieva, Irina, Muntoni, Francesco, Nigro, Vincenzo, D’Amico, Adele, Santorelli, Filippo M.
Publicado 2018