Molecular Diagnosis in 100% of Dystrophinopathies: Are We There Yet?

by Pegoraro, Elena
Published in Neurol Genet (2021)

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy

by Bello, Luca, Pegoraro, Elena
Published in Acta Myol (2016)

The “Usual Suspects”: Genes for Inflammation, Fibrosis, Regeneration, and Muscle Strength Modify Duchenne Muscular Dystrophy

by Bello, Luca, Pegoraro, Elena
Published in J Clin Med (2019)

Teaching an Old Molecule New Tricks: Drug Repositioning for Duchenne Muscular Dystrophy

by Vitiello, Libero, Tibaudo, Lucia, Pegoraro, Elena, Bello, Luca, Canton, Marcella
Published in Int J Mol Sci (2019)

Cored in the act: the use of models to understand core myopathies

by Fusto, Aurora, Moyle, Louise A., Gilbert, Penney M., Pegoraro, Elena
Published in Dis Model Mech (2019)

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

MR Imaging Findings in Children with Merosin-Deficient Congenital Muscular Dystrophy

by Caro, Pilar A., Scavina, Mena, Hoffman, Eric, Pegoraro, Elena, Marks, Harold G.
Published in AJNR Am J Neuroradiol (1999)

Outcome measures and treatment effectiveness in late onset myasthenia gravis

by Pasqualin, Francesca, Guidoni, Silvia V., Ermani, Mario, Pegoraro, Elena, Bonifati, Domenico M.
Published in Neurol Res Pract (2020)

Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II

by Angelini, Corrado, Semplicini, Claudio, Tonin, Paola, Filosto, Massimiliano, Pegoraro, Elena, Sorarù, Gianni, Fanin, Marina
Published 2009

Muscle MR Imaging in Tubular Aggregate Myopathy

by Beltrame, Valeria, Ortolan, Paolo, Coran, Alessandro, Zanato, Riccardo, Gazzola, Matteo, Frigo, Annachiara, Bello, Luca, Pegoraro, Elena, Stramare, Roberto
Published 2014

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 in Sci Rep (2016)

Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy

by Gualandi, Francesca, Manzati, Elisa, Sabatelli, Patrizia, Passarelli, Chiara, Bovolenta, Matteo, Pellegrini, Camilla, Perrone, Daniela, Squarzoni, Stefano, Pegoraro, Elena, Bonaldo, Paolo, Ferlini, Alessandra
Published 2012

TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle

by Piva, Luisa, Gavassini, Bruno F, Bello, Luca, Fanin, Marina, Soraru, Gianni, Barp, Andrea, Ermani, Mario, Angelini, Corrado, Hoffman, Eric P, Pegoraro, Elena
Published 2012

Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis: Neurofilament Light Chain Levels in Definite Subtypes of Disease

by Gaiani, Alessandra, Martinelli, Ilaria, Bello, Luca, Querin, Giorgia, Puthenparampil, Marco, Ruggero, Susanna, Toffanin, Elisabetta, Cagnin, Annachiara, Briani, Chiara, Pegoraro, Elena, Sorarù, Gianni
Published in JAMA Neurol (2017)

Muscle MRI and functional outcome measures in Becker muscular dystrophy

by Barp, Andrea, Bello, Luca, Caumo, Luca, Campadello, Paola, Semplicini, Claudio, Lazzarotto, Annalisa, Sorarù, Gianni, Calore, Chiara, Rampado, Alessandro, Motta, Raffaella, Stramare, Roberto, Pegoraro, Elena
Published in Sci Rep (2017)

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

by Hogarth, Marshall W., Houweling, Peter J., Thomas, Kristen C., Gordish-Dressman, Heather, Bello, Luca, Pegoraro, Elena, Hoffman, Eric P., Head, Stewart I., North, Kathryn N.
Published in Nat Commun (2017)

Integrin α7β1 in Muscular Dystrophy/Myopathy of Unknown Etiology

by Pegoraro, Elena, Cepollaro, Fulvio, Prandini, Paola, Marin, Alessandra, Fanin, Marina, Trevisan, Carlo P., El-Messlemani, Abdul Hassib, Tarone, Guido, Engvall, Eva, Hoffman, Eric P., Angelini, Corrado
Published 2002

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients

by Borgia, Doriana, Malena, Adriana, Spinazzi, Marco, Desbats, Maria Andrea, Salviati, Leonardo, Russell, Aaron P., Miotto, Giovanni, Tosatto, Laura, Pegoraro, Elena, Sorarù, Gianni, Pennuto, Maria, Vergani, Lodovica
Published in Hum Mol Genet (2017)

Inositol trisphosphate receptor-mediated Ca(2+) signalling stimulates mitochondrial function and gene expression in core myopathy patients

by Suman, Matteo, Sharpe, Jenny A, Bentham, Robert B, Kotiadis, Vassilios N, Menegollo, Michela, Pignataro, Viviana, Molgó, Jordi, Muntoni, Francesco, Duchen, Michael R, Pegoraro, Elena, Szabadkai, Gyorgy
Published in Hum Mol Genet (2018)

Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study

by Bello, Luca, Kesari, Akanchha, Gordish-Dressman, Heather, Cnaan, Avital, Morgenroth, Lauren P, Punetha, Jaya, Duong, Tina, Henricson, Erik K, Pegoraro, Elena, McDonald, Craig M, Hoffman, Eric P
Published in Ann Neurol (2015)