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

por Pegoraro, Elena
Publicado 2021

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

por Bello, Luca, Pegoraro, Elena
Publicado 2016

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

por Bello, Luca, Pegoraro, Elena
Publicado 2019

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

por Vitiello, Libero, Tibaudo, Lucia, Pegoraro, Elena, Bello, Luca, Canton, Marcella
Publicado 2019

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

por Fusto, Aurora, Moyle, Louise A., Gilbert, Penney M., Pegoraro, Elena
Publicado 2019

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

Outcome measures and treatment effectiveness in late onset myasthenia gravis

por Pasqualin, Francesca, Guidoni, Silvia V., Ermani, Mario, Pegoraro, Elena, Bonifati, Domenico M.
Publicado 2020

Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy

por Ricci, Giulia, Bello, Luca, Torri, Francesca, Schirinzi, Erika, Pegoraro, Elena, Siciliano, Gabriele
Publicado 2022

Muscle magnetic resonance characterization of STIM1 tubular aggregate myopathy using unsupervised learning

por Lupi, Amalia, Spolaor, Simone, Favero, Alessandro, Bello, Luca, Stramare, Roberto, Pegoraro, Elena, Nobile, Marco Salvatore
Publicado 2023

Subjective Sleep Quality as it Relates to Cognitive and Physical Function in Spinal Muscular Atrophy Patients

por Wennberg, Alexandra, Lenzoni, Sabrina, Turcano, Pierpaolo, Casagrande, Elena, Caumo, Luca, Sorarú, Gianni, Pegoraro, Elena, Semenza, Carlo
Publicado 2023

Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate

por Joshi, Pushpa Raj, Gräfin zu Stolberg-Stolberg, Maria, Scholle, Leila Motlagh, Meinhardt, Beate, Pegoraro, Elena, Zierz, Stephan
Publicado 2022

Muscle MR Imaging in Tubular Aggregate Myopathy

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

The relevance of migraine in the clinical spectrum of mitochondrial disorders

por Terrin, Alberto, Bello, Luca, Valentino, Maria Lucia, Caporali, Leonardo, Sorarù, Gianni, Carelli, Valerio, Maggioni, Ferdinando, Zeviani, Massimo, Pegoraro, Elena
Publicado 2022

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

Correction to: Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS): validation and longitudinal performance

por Fortuna, Andrea, Sabbatini, Daniele, Frigo, Annachiara, Bello, Luca, Calvi, Francesca, Blasi, Lorenzo, Gianferrari, Giulia, Martinelli, Ilaria, Minicuci, Giacomo, Pegoraro, Elena, Mandrioli, Jessica, Sorarù, Gianni
Publicado 2023

The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA)

por Blasi, Lorenzo, Sabbatini, Daniele, Fortuna, Andrea, Querin, Giorgia, Martinelli, Ilaria, Vianello, Sara, Bertolin, Cinzia, Pareyson, Davide, Pennuto, Maria, Pegoraro, Elena, Bello, Luca, Sorarù, Gianni
Publicado 2023

Muscle MRI and functional outcome measures in Becker muscular dystrophy

por Barp, Andrea, Bello, Luca, Caumo, Luca, Campadello, Paola, Semplicini, Claudio, Lazzarotto, Annalisa, Sorarù, Gianni, Calore, Chiara, Rampado, Alessandro, Motta, Raffaella, Stramare, Roberto, Pegoraro, Elena
Publicado 2017

Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS): validation and longitudinal performance

por Fortuna, Andrea, Sabbatini, Daniele, Frigo, Annachiara, Bello, Luca, Calvi, Francesca, Blasi, Lorenzo, Gianferrari, Giulia, Martinelli, Ilaria, Minicuci, Giacomo, Pegoraro, Elena, Mandrioli, Jessica, Sorarù, Gianni
Publicado 2022

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

por 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.
Publicado 2017

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

por 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
Publicado 2017