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

od Pegoraro, Elena
izdano v Neurol Genet (2021)

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

od Bello, Luca, Pegoraro, Elena
izdano v Acta Myol (2016)

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

od Bello, Luca, Pegoraro, Elena
izdano v J Clin Med (2019)

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

od Vitiello, Libero, Tibaudo, Lucia, Pegoraro, Elena, Bello, Luca, Canton, Marcella
izdano v Int J Mol Sci (2019)

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

od Fusto, Aurora, Moyle, Louise A., Gilbert, Penney M., Pegoraro, Elena
izdano v Dis Model Mech (2019)

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

od Angelini, Corrado, Semplicini, Claudio, Fanin, Marina, Nascimbeni, Annachiara, Peterle, Enrico, Pegoraro, Elena
Izdano 2011

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

od Caro, Pilar A., Scavina, Mena, Hoffman, Eric, Pegoraro, Elena, Marks, Harold G.
izdano v AJNR Am J Neuroradiol (1999)

Outcome measures and treatment effectiveness in late onset myasthenia gravis

od Pasqualin, Francesca, Guidoni, Silvia V., Ermani, Mario, Pegoraro, Elena, Bonifati, Domenico M.
izdano v Neurol Res Pract (2020)

Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II

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

Muscle MR Imaging in Tubular Aggregate Myopathy

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

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

od Bello, Luca, Campadello, Paola, Barp, Andrea, Fanin, Marina, Semplicini, Claudio, Sorarù, Gianni, Caumo, Luca, Calore, Chiara, Angelini, Corrado, Pegoraro, Elena
izdano v Sci Rep (2016)

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

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

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

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

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

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

Muscle MRI and functional outcome measures in Becker muscular dystrophy

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

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

od 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.
izdano v Nat Commun (2017)

Integrin α7β1 in Muscular Dystrophy/Myopathy of Unknown Etiology

od 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
Izdano 2002

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

od 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
izdano v Hum Mol Genet (2017)

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

od 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
izdano v Hum Mol Genet (2018)

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

od 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
izdano v Ann Neurol (2015)