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

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

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

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review

por Siano, Maria Anna, De Maggio, Ilaria, Petillo, Roberta, Cocciadiferro, Dario, Agolini, Emanuele, Majolo, Massimo, Novelli, Antonio, Della Monica, Matteo, Piscopo, Carmelo
Publicado 2022

Novel mutations in LMNA A/C gene and associated phenotypes

por Petillo, Roberta, D'Ambrosio, Paola, Torella, Annalaura, Taglia, Antonella, Picillo, Esther, Testori, Alessandro, Ergoli, Manuela, Nigro, Gerardo, Piluso, Giulio, Nigro, Vincenzo, Politano, Luisa
Publicado 2015

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

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

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

The 6 Minute Walk Test and Performance of Upper Limb in Ambulant Duchenne Muscular Dystrophy Boys

por Pane, Marika, Mazzone, Elena Stacy, Sivo, Serena, Fanelli, Lavinia, De Sanctis, Roberto, D’Amico, Adele, Messina, Sonia, Battini, Roberta, Bianco, Flaviana, Scutifero, Marianna, Petillo, Roberta, Frosini, Silvia, Scalise, Roberta, Vita, Gian Luca, Bruno, Claudio, Pedemonte, Marina, Mongini, Tiziana, Pegoraro, Elena, Brustia, Francesca, Gardani, Alice, Berardinelli, Angela, Lanzillotta, Valentina, Viggiano, Emanuela, Cavallaro, Filippo, Sframeli, Maria, Bello, Luca, Barp, Andrea, Busato, Fabio, Bonfiglio, Serena, Rolle, Enrica, Colia, Giulia, Bonetti, Annamaria, Palermo, Concetta, Graziano, Alessandra, D’Angelo, Grazia, Pini, Antonella, Corlatti, Alice, Gorni, Ksenija, Baranello, Giovanni, Antonaci, Laura, Bertini, Enrico, Politano, Luisa, Mercuri, Eugenio
Publicado 2014

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study

por Mazzone, Elena S., Coratti, Giorgia, Sormani, Maria Pia, Messina, Sonia, Pane, Marika, D'Amico, Adele, Colia, Giulia, Fanelli, Lavinia, Berardinelli, Angela, Gardani, Alice, Lanzillotta, Valentina, D’Ambrosio, Paola, Petillo, Roberta, Cavallaro, Filippo, Frosini, Silvia, Bello, Luca, Bonfiglio, Serena, De Sanctis, Roberto, Rolle, Enrica, Forcina, Nicola, Magri, Francesca, Vita, Gianluca, Palermo, Concetta, Donati, Maria Alice, Procopio, Elena, Arnoldi, Maria Teresa, Baranello, Giovanni, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Torrente, Yvan, Previtali, Stefano C., Bruno, Claudio, Politano, Luisa, Comi, Giacomo P., D’Angelo, Maria Grazia, Bertini, Enrico, Mercuri, Eugenio
Publicado 2016