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

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

Efficacy and safety of ropivacaine HCl in peribulbar anaesthesia for cataract surgery in patients with myotonic dystrophy type 1

por Palladino, Alberto, De Bernardo, Maddalena, Scutifero, Marianna, Lanza, Michele, De Querquis, Silvio, Rosa, Nicola, Politano, Luisa
Publicado 2020

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

Management of cardiac involvement in muscular dystrophies: paediatric versus adult forms

por Palladino, Alberto, D'Ambrosio, Paola, Papa, Andrea Antonio, Petillo, Roberta, Orsini, Chiara, Scutifero, Marianna, Nigro, Gerardo, Politano, Luisa
Publicado 2016

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

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

Heart transplantation in a patient with Myotonic Dystrophy type 1 and end-stage dilated cardiomyopathy: a short term follow-up

por PAPA, ANDREA ANTONIO, VERRILLO, FEDERICA, SCUTIFERO, MARIANNA, RAGO, ANNA, MORRA, SALVATORE, CASSESE, ANTONIO, CIOPPA, NADIA DELLA, MAGLIOCCA, MARIA CRISTINA GIADA, GALANTE, DARIO, PALLADINO, ALBERTO, GOLINO, PAOLO, POLITANO, LUISA
Publicado 2018

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

Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD

por Cascella, Raffaella, Strafella, Claudia, Caputo, Valerio, Galota, Rosaria Maria, Errichiello, Valeria, Scutifero, Marianna, Petillo, Roberta, Marella, Gian Luca, Arcangeli, Mauro, Colantoni, Luca, Zampatti, Stefania, Ricci, Enzo, Deidda, Giancarlo, Politano, Luisa, Giardina, Emiliano
Publicado 2018

Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study

por Messina, Sonia, Vita, Gian Luca, Sframeli, Maria, Mondello, Stefania, Mazzone, Elena, D'Amico, Adele, Berardinelli, Angela, La Rosa, Matteo, Bruno, Claudio, Distefano, Maria Grazia, Baranello, Giovanni, Barcellona, Costanza, Scutifero, Marianna, Marcato, Sonia, Palmieri, Arianna, Politano, Luisa, Morandi, Lucia, Mongini, Tiziana, Pegoraro, Elena, D'Angelo, Maria Grazia, Pane, Marika, Rodolico, Carmelo, Minetti, Carlo, Bertini, Enrico, Vita, Giuseppe, Mercuri, Eugenio
Publicado 2016

Burden, professional support, and social network in families of children and young adults with muscular dystrophies

por Magliano, Lorenza, Patalano, Melania, Sagliocchi, Alessandra, Scutifero, Marianna, Zaccaro, Antonella, D'angelo, Maria Grazia, Civati, Federica, Brighina, Erika, Vita, Giuseppe, Vita, Gian Luca, Messina, Sonia, Sframeli, Maria, Pane, Marika, Lombardo, Maria Elena, Scalise, Roberta, D'amico, Adele, Colia, Giulia, Catteruccia, Michela, Balottin, Umberto, Berardinelli, Angela, Chiara Motta, Maria, Angelini, Corrado, Gaiani, Alessandra, Semplicini, Claudio, Bello, Luca, Battini, Roberta, Astrea, Guja, Politano, Luisa
Publicado 2015

Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions

por Politano, Luisa, Scutifero, Marianna, Patalano, Melania, Sagliocchi, Alessandra, Zaccaro, Antonella, Civati, Federica, Brighina, Erika, Vita, Gianluca, Messina, Sonia, Sframeli, Maria, Elena Lombardo, Maria, Scalise, Roberta, Colia, Giulia, Catteruccia, Maria, Berardinelli, Angela, Motta, Maria Chiara, Gaiani, Alessandra, Semplicini, Claudio, Bello, Luca, Astrea, Guja, Ricci, Giulia, Grazia D'Angelo, Maria, Vita, Giuseppe, Pane, Marika, D'Amico, Adele, Balottin, Umberto, Angelini, Corrado, Battini, Roberta, Magliano, Lorenza
Publicado 2017

“I have got something positive out of this situation”: psychological benefits of caregiving in relatives of young people with muscular dystrophy

por Magliano, Lorenza, Patalano, Melania, Sagliocchi, Alessandra, Scutifero, Marianna, Zaccaro, Antonella, D’Angelo, Maria Grazia, Civati, Federica, Brighina, Erika, Vita, Giuseppe, Vita, Gian Luca, Messina, Sonia, Sframeli, Maria, Pane, Marika, Lombardo, Maria Elena, Scalise, Roberta, D’Amico, Adele, Colia, Giulia, Catteruccia, Michela, Balottin, Umberto, Berardinelli, Angela, Motta, Maria Chiara, Angelini, Corrado, Gaiani, Alessandra, Semplicini, Claudio, Bello, Luca, Battini, Roberta, Astrea, Guja, Ricci, Giulia, Politano, Luisa
Publicado 2013

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test

por Pane, Marika, Fanelli, Lavinia, Mazzone, Elena Stacy, Olivieri, Giorgia, D'Amico, Adele, Messina, Sonia, Scutifero, Marianna, Battini, Roberta, Petillo, Roberta, Frosini, Silvia, Sivo, Serena, Vita, Gian Luca, Bruno, Claudio, Mongini, Tiziana, Pegoraro, Elena, De Sanctis, Roberto, Gardani, Alice, Berardinelli, Angela, Lanzillotta, Valentina, Carlesi, Adelina, Viggiano, Emanuela, Cavallaro, Filippo, Sframeli, Maria, Bello, Luca, Barp, Andrea, Bianco, Flaviana, Bonfiglio, Serena, Rolle, Enrica, Palermo, Concetta, D'Angelo, Grazia, Pini, Antonella, Iotti, Elena, Gorni, Ksenija, Baranello, Giovanni, Bertini, Enrico, Politano, Luisa, Sormani, Maria Pia, Mercuri, Eugenio
Publicado 2015

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data

por Pane, Marika, Coratti, Giorgia, Brogna, Claudia, Mazzone, Elena Stacy, Mayhew, Anna, Fanelli, Lavinia, Messina, Sonia, D’Amico, Adele, Catteruccia, Michela, Scutifero, Marianna, Frosini, Silvia, Lanzillotta, Valentina, Colia, Giulia, Cavallaro, Filippo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Petillo, Roberta, Barp, Andrea, Gardani, Alice, Pini, Antonella, Monaco, Giulia, D’Angelo, Maria Grazia, Zanin, Riccardo, Vita, Gian Luca, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Pegoraro, Elena, Bello, Luca, Berardinelli, Angela, Battini, Roberta, Sansone, Valeria, Albamonte, Emilio, Baranello, Giovanni, Bertini, Enrico, Politano, Luisa, Sormani, Maria Pia, Mercuri, Eugenio
Publicado 2018