Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report

por Picillo, Esther, Torella, Annalaura, Passamano, Luigia, Nigro, Vincenzo, Politano, Luisa
Publicado 2022

Can symptomatic nmDuchenne carriers benefit from treatment with ataluren? Results of 193-month follow-up

por Dori, Amir, Guglieri, Michela, Scutifero, Marianna, Passamano, Luigia, Trabacca, Antonio, Politano, Luisa
Publicado 2021

Can symptomatic nmDuchenne carriers benefit from treatment with ataluren? Results of 193-month follow-up

por Dori, Amir, Guglieri, Michela, Scutifero, Marianna, Passamano, Luigia, Trabacca, Antonio, Politano, Luisa
Publicado 2022

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

por Onore, Maria Elena, Savarese, Marco, Picillo, Esther, Passamano, Luigia, Nigro, Vincenzo, Politano, Luisa
Publicado 2022

Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review lite...

por Pizza, Antonella, Picillo, Esther, Onore, Maria Elena, Scutifero, Marianna, Passamano, Luigia, Nigro, Vincenzo, Politano, Luisa
Publicado 2023

Gender effect on onset, prevalence and surgical treatment of cataract in patients with Myotonic Dystrophy type 1

por Scutifero, Marianna, Lanza, Michele, Petillo, Roberta, De Bernardo, Maddalena, Passamano, Luigia, Rosa, Nicola, Politano, Luisa
Publicado 2022

The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution

por Palladino, Alberto, Papa, Andrea Antonio, Petillo, Roberta, Scutifero, Marianna, Morra, Salvatore, Passamano, Luigia, Nigro, Vincenzo, Politano, Luisa
Publicado 2022

Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy

por Rodolico, Carmelo, Politano, Luisa, Portaro, Simona, Murru, Stefania, Boccone, Loredana, Sera, Francesco, Passamano, Luigia, Brizzi, Teresa, Tupler, Rossella
Publicado 2020

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy

por Viggiano, Emanuela, Picillo, Esther, Passamano, Luigia, Onore, Maria Elena, Piluso, Giulio, Scutifero, Marianna, Torella, Annalaura, Nigro, Vincenzo, Politano, Luisa
Publicado 2023

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita

por Orsini, Chiara, Petillo, Roberta, D'Ambrosio, Paola, Ergoli, Manuela, Picillo, Esther, Scutifero, Marianna, Passamano, Luigia, De Luca, Alessandro, Politano, Luisa
Publicado 2020

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies

por D’AMBROSIO, PAOLA, PETILLO, ROBERTA, TORELLA, ANNALAURA, PAPA, ANDREA ANTONIO, PALLADINO, ALBERTO, ORSINI, CHIARA, ERGOLI, MANUELA, PASSAMANO, LUIGIA, NOVELLI, ANTONIO, NIGRO, VINCENZO, POLITANO, LUISA
Publicado 2019

Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene

por TAGLIA, ANTONELLA, PETILLO, ROBERTA, D'AMBROSIO, PAOLA, PICILLO, ESTHER, TORELLA, ANNALAURA, ORSINI, CHIARA, ERGOLI, MANUELA, SCUTIFERO, MARIANNA, PASSAMANO, LUIGIA, PALLADINO, ALBERTO, NIGRO, GERARDO, POLITANO, LUISA
Publicado 2015

Cardiac involvement in patients with Spinal Muscular Atrophies

por Palladino, Alberto, Passamano, Luigia, Taglia, Antonella, D'Ambrosio, Paola, Scutifero, Marianna, Rosaria Cecio, Maria, Picillo, Esther, Viggiano, Emanuela, Torre, Vito, De Luca, Francesco, Nigro, Giovanni, Politano, Luisa
Publicado 2011

Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients

por PASSAMANO, LUIGIA, TAGLIA, ANTONELLA, PALLADINO, ALBERTO, VIGGIANO, EMANUELA, D'AMBROSIO, PAOLA, SCUTIFERO, MARIANNA, ROSARIA CECIO, MARIA, TORRE, VITO, DE LUCA, FRANCESCO, PICILLO, ESTHER, PACIELLO, ORLANDO, PILUSO, GIULIO, NIGRO, GERARDO, POLITANO, LUISA
Publicado 2012

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

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

Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase

por Mauri, Eleonora, Abati, Elena, Musumeci, Olimpia, Rodolico, Carmelo, D’Angelo, Maria Grazia, Mirabella, Massimiliano, Lucchini, Matteo, Bello, Luca, Pegoraro, Elena, Maggi, Lorenzo, Manneschi, Letizia, Gemelli, Chiara, Grandis, Marina, Zuppa, Angela, Massucco, Sara, Benedetti, Luana, Caponnetto, Claudia, Schenone, Angelo, Prelle, Alessandro, Previtali, Stefano C., Scarlato, Marina, D’Amico, Adele, Bertini, Enrico, Pennisi, Elena M., De Giglio, Laura, Pane, Marika, Mercuri, Eugenio, Mongini, Tiziana, Ricci, Federica, Berardinelli, Angela, Astrea, Guja, Lenzi, Sara, Battini, Roberta, Ricci, Giulia, Torri, Francesca, Siciliano, Gabriele, Santorelli, Filippo M., Ariatti, Alessandra, Filosto, Massimiliano, Passamano, Luigia, Politano, Luisa, Scutifero, Marianna, Tonin, Paola, Fossati, Barbara, Panicucci, Chiara, Bruno, Claudio, Ravaglia, Sabrina, Monforte, Mauro, Tasca, Giorgio, Ricci, Enzo, Petrucci, Antonio, Santoro, Lucio, Ruggiero, Lucia, Barp, Andrea, Albamonte, Emilio, Sansone, Valeria, Gagliardi, Delia, Costamagna, Gianluca, Govoni, Alessandra, Magri, Francesca, Brusa, Roberta, Velardo, Daniele, Meneri, Megi, Sciacco, Monica, Corti, Stefania, Bresolin, Nereo, Moroni, Isabella, Messina, Sonia, Di Muzio, Antonio, Nigro, Vincenzo, Liguori, Rocco, Antonini, Giovanni, Toscano, Antonio, Minetti, Carlo, Comi, Giacomo Pietro
Publicado 2020