Reply to Chacko et al.: Limited Assessment of Respiratory Muscle Response to Nusinersen Treatment in Infants with Spinal Muscular Atrophy

por LoMauro, Antonella, Mastella, Chiara, Alberti, Katia, Masson, Riccardo, Aliverti, Andrea
Publicado 2020

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa

por Cinquina, Valeria, Ciaccio, Claudia, Venturini, Marina, Masson, Riccardo, Ritelli, Marco, Colombi, Marina
Publicado 2020

A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?

por Milone, Roberta, Masson, Riccardo, Di Cosmo, Caterina, Tonacchera, Massimo, Bertini, Veronica, Guzzetta, Andrea, Battini, Roberta
Publicado 2019

Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study

por Cances, Claude, Vlodavets, Dmitry, Comi, Giacomo Pietro, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Saito, Kayoko, Zanoteli, Edmar, Dodman, Angela, El-Khairi, Muna, Gorni, Ksenija, Gravestock, Isaac, Hoffart, Janine, Scalco, Renata S., Darras, Basil T.
Publicado 2022

Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients

por Bonanno, Silvia, Marcuzzo, Stefania, Malacarne, Claudia, Giagnorio, Eleonora, Masson, Riccardo, Zanin, Riccardo, Arnoldi, Maria Teresa, Andreetta, Francesca, Simoncini, Ornella, Venerando, Anna, Gellera, Cinzia, Pantaleoni, Chiara, Mantegazza, Renato, Bernasconi, Pia, Baranello, Giovanni, Maggi, Lorenzo
Publicado 2020

Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment

por Bonanno, Silvia, Cavalcante, Paola, Salvi, Erika, Giagnorio, Eleonora, Malacarne, Claudia, Cattaneo, Marco, Andreetta, Francesca, Venerando, Anna, Pensato, Viviana, Gellera, Cinzia, Zanin, Riccardo, Arnoldi, Maria Teresa, Dosi, Claudia, Mantegazza, Renato, Masson, Riccardo, Maggi, Lorenzo, Marcuzzo, Stefania
Publicado 2022

Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study

por Brogna, Claudia, Pane, Marika, Coratti, Giorgia, D’Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria Ada Maria, Albamonte, Emilio, Messina, Sonia, Pini, Antonella, D’Angelo, Maria Grazia, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica Silvia, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Bertini, Enrico Silvio, Politano, Luisa, Mercuri, Eugenio
Publicado 2023

Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients

por Malacarne, Claudia, Galbiati, Mariarita, Giagnorio, Eleonora, Cavalcante, Paola, Salerno, Franco, Andreetta, Francesca, Cagnoli, Cinza, Taiana, Michela, Nizzardo, Monica, Corti, Stefania, Pensato, Viviana, Venerando, Anna, Gellera, Cinzia, Fenu, Silvia, Pareyson, Davide, Masson, Riccardo, Maggi, Lorenzo, Dalla Bella, Eleonora, Lauria, Giuseppe, Mantegazza, Renato, Bernasconi, Pia, Poletti, Angelo, Bonanno, Silvia, Marcuzzo, Stefania
Publicado 2021

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

por Maggi, Lorenzo, Brugnoni, Raffaella, Canioni, Eleonora, Tonin, Paola, Saletti, Veronica, Sola, Patrizia, Piccinelli, Stefano Cotti, Colleoni, Lara, Ferrigno, Paola, Pini, Antonella, Masson, Riccardo, Manganelli, Fiore, Lietti, Daniele, Vercelli, Liliana, Ricci, Giulia, Bruno, Claudio, Tasca, Giorgio, Pizzuti, Antonio, Padovani, Alessandro, Fusco, Carlo, Pegoraro, Elena, Ruggiero, Lucia, Ravaglia, Sabrina, Siciliano, Gabriele, Morandi, Lucia, Dubbioso, Raffaele, Mongini, Tiziana, Filosto, Massimiliano, Tramacere, Irene, Mantegazza, Renato, Bernasconi, Pia
Publicado 2020

Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy

por Coratti, Giorgia, Lenkowicz, Jacopo, Norcia, Giulia, Lucibello, Simona, Ferraroli, Elisabetta, d’Amico, Adele, Bello, Luca, Pegoraro, Elena, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Berardinelli, Angela, Masson, Riccardo, Previtali, Stefano C., D’angelo, Grazia, Magri, Francesca, Comi, Giacomo P., Politano, Luisa, Passamano, Luigia, Vita, Gianluca, Sansone, Valeria A., Albamonte, Emilio, Panicucci, Chiara, Bruno, Claudio, Pini, Antonella, Bertini, Enrico, Patarnello, Stefano, Pane, Marika, Mercuri, Eugenio
Publicado 2022

Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies

por Pane, Marika, Berti, Beatrice, Capasso, Anna, Coratti, Giorgia, Varone, Antonio, D’Amico, Adele, Messina, Sonia, Masson, Riccardo, Sansone, Valeria Ada, Donati, Maria Alice, Agosto, Caterina, Bruno, Claudio, Ricci, Federica, Pini, Antonella, Gagliardi, Delio, Filosto, Massimiliano, Corti, Stefania, Leone, Daniela, Palermo, Concetta, Onesimo, Roberta, De Sanctis, Roberto, Ricci, Martina, Bitetti, Ilaria, Sframeli, Maria, Dosi, Claudia, Albamonte, Emilio, Ticci, Chiara, Brolatti, Noemi, Bertini, Enrico, Finkel, Richard, Mercuri, Eugenio
Publicado 2023

Genetic modifiers of upper limb function in Duchenne muscular dystrophy

por Sabbatini, Daniele, Fusto, Aurora, Vianello, Sara, Villa, Matteo, Janik, Joanna, D’Angelo, Grazia, Diella, Eleonora, Magri, Francesca, Comi, Giacomo P., Panicucci, Chiara, Bruno, Claudio, D’Amico, Adele, Bertini, Enrico, Astrea, Guja, Battini, Roberta, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Previtali, Stefano C., Messina, Sonia, Vita, Gianluca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio, Hoffman, Eric P., Morgenroth, Lauren, Gordish-Dressman, Heather, Duong, Tina, McDonald, Craig M., Bello, Luca, Pegoraro, Elena
Publicado 2022

Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey

por Coratti, Giorgia, Ricci, Martina, Capasso, Anna, D'amico, Adele, Sansone, Valeria, Bruno, Claudio, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Coccia, Michela, Siciliano, Gabriele, Pegoraro, Elena, Turri, Mara, Filosto, Massimiliano, Comi, Giacomo, Masson, Riccardo, Maggi, Lorenzo, Bruno, Irene, D'Angelo, Maria Grazia, Trabacca, Antonio, Vacchiano, Veria, Donati, Maria, Simone, Isabella, Ruggiero, Lucia, Varone, Antonio, Verriello, Lorenzo, Berardinelli, Angela, Agosto, Caterina, Pini, Antonella, Maioli, Maria Antonietta, Passamano, Luigia, Brighina, Filippo, Carboni, Nicola, Garibaldi, Matteo, Zuccarino, Riccardo, Gagliardi, Delio, Siliquini, Sabrina, Previtali, Stefano, Taruscio, Domenica, Boccia, Stefania, Pera, Maria Carmela, Pane, Marika, Mercuri, Eugenio
Publicado 2023

Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?

por Pane, Marika, Coratti, Giorgia, Brogna, Claudia, Bovis, Francesca, D’Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria, Albamonte, Emilio, Ferraroli, Elisabetta, Mazzone, Elena Stacy, Fanelli, Lavinia, Messina, Sonia, Catteruccia, Michela, Cicala, Gianpaolo, Ricci, Martina, Frosini, Silvia, De Luca, Giacomo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Norcia, Giulia, Passamano, Luigia, Gardani, Alice, Pini, Antonella, Monaco, Giulia, D’Angelo, Maria Grazia, Capasso, Anna, Leone, Daniela, Zanin, Riccardo, Vita, Gian Luca, Panicucci, Chiara, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Baranello, Giovanni, Dosi, Claudia, Bertini, Enrico, Politano, Luisa, Mercuri, Eugenio
Publicado 2023

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

por Bello, Luca, D’Angelo, Grazia, Villa, Matteo, Fusto, Aurora, Vianello, Sara, Merlo, Beatrice, Sabbatini, Daniele, Barp, Andrea, Gandossini, Sandra, Magri, Francesca, Comi, Giacomo P., Pedemonte, Marina, Tacchetti, Paola, Lanzillotta, Valentina, Trucco, Federica, D’Amico, Adele, Bertini, Enrico, Astrea, Guja, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Albamonte, Emilio, De Mattia, Elisa, Rao, Fabrizio, Sansone, Valeria A., Previtali, Stefano, Messina, Sonia, Vita, Gian Luca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio, Vianello, Andrea, Bruno, Claudio, Hoffman, Eric P., Morgenroth, Lauren, Gordish‐Dressman, Heather, McDonald, Craig M., Pegoraro, Elena
Publicado 2020