Canlyniadau Chwilio - D’AMBROSIO, PAOLA

On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy gan TAGLIA, ANTONELLA, D'AMBROSIO, PAOLA, PALLADINO, ALBERTO, POLITANO, LUISA

Cael y testun llawn Cael y testun llawn

Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report gan D’AMBROSIO, PAOLA, ORSINI, CHIARA, NIGRO, VINCENZO, POLITANO, LUISA

Cael y testun llawn Cael y testun llawn

Heart transplantation in patients with dystrophinopathic cardiomyopathy: Review of the literature and personal series gan Papa, Andrea Antonio, D'Ambrosio, Paola, Petillo, Roberta, Palladino, Alberto, Politano, Luisa

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Genetic counseling in Pompe disease gan Taglia, Antonella, Picillo, Esther, D'Ambrosio, Paola, Rosaria Cecio, Maria, Viggiano, Emanuela, Politano, Luisa

Cael y testun llawn Cael y testun llawn

Increased heterogeneity of ventricular repolarization in myotonic dystrophy type 1 population gan Russo, Vincenzo, Papa, Andrea Antonio, Rago, Anna, D'Ambrosio, Paola, Cimmino, Giovanni, Palladino, Alberto, Politano, Luisa, Nigro, Gerardo

Cael y testun llawn Cael y testun llawn

Management of cardiac involvement in muscular dystrophies: paediatric versus adult forms gan Palladino, Alberto, D'Ambrosio, Paola, Papa, Andrea Antonio, Petillo, Roberta, Orsini, Chiara, Scutifero, Marianna, Nigro, Gerardo, Politano, Luisa

Cael y testun llawn Cael y testun llawn

Is the epicardial left ventricular lead implantation an alternative approach to percutaneous attempt in patients with Steinert disease? A case report gan PAPA, ANDREA ANTONIO, RAGO, ANNA, PETILLO, ROBERTA, D’AMBROSIO, PAOLA, SCUTIFERO, MARIANNA, FEO, MARISA DE, MAIELLO, CIRO, PALLADINO, ALBERTO

Cael y testun llawn Cael y testun llawn

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita gan Orsini, Chiara, Petillo, Roberta, D'Ambrosio, Paola, Ergoli, Manuela, Picillo, Esther, Scutifero, Marianna, Passamano, Luigia, De Luca, Alessandro, Politano, Luisa

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement gan Onore, Maria Elena, Torella, Annalaura, Musacchia, Francesco, D’Ambrosio, Paola, Zanobio, Mariateresa, Del Vecchio Blanco, Francesca, Piluso, Giulio, Nigro, Vincenzo

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Novel mutations in LMNA A/C gene and associated phenotypes gan Petillo, Roberta, D'Ambrosio, Paola, Torella, Annalaura, Taglia, Antonella, Picillo, Esther, Testori, Alessandro, Ergoli, Manuela, Nigro, Gerardo, Piluso, Giulio, Nigro, Vincenzo, Politano, Luisa

Cael y testun llawn Cael y testun llawn

TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement gan Astrea, Guja, Pezzini, Ilaria, Picillo, Ester, Pasquariello, Rosa, Moro, Francesca, Ergoli, Manuela, D'Ambrosio, Paola, D'Amico, Adele, Politano, Luisa, Santorelli, Filippo Maria

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies gan D’AMBROSIO, PAOLA, PETILLO, ROBERTA, TORELLA, ANNALAURA, PAPA, ANDREA ANTONIO, PALLADINO, ALBERTO, ORSINI, CHIARA, ERGOLI, MANUELA, PASSAMANO, LUIGIA, NOVELLI, ANTONIO, NIGRO, VINCENZO, POLITANO, LUISA

Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn

Cardiac involvement in patients with Spinal Muscular Atrophies gan 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

Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E gan Semplicini, Claudio, Vissing, John, Dahlqvist, Julia R., Stojkovic, Tanya, Bello, Luca, Witting, Nanna, Duno, Morten, Leturcq, France, Bertolin, Cinzia, D'Ambrosio, Paola, Eymard, Bruno, Angelini, Corrado, Politano, Luisa, Laforêt, Pascal, Pegoraro, Elena

Cael y testun llawn Cael y testun llawn Cael y testun llawn

24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy gan Mazzone, Elena Stacy, Pane, Marika, Sormani, Maria Pia, Scalise, Roberta, Berardinelli, Angela, Messina, Sonia, Torrente, Yvan, D’Amico, Adele, Doglio, Luca, Viggiano, Emanuela, D’Ambrosio, Paola, Cavallaro, Filippo, Frosini, Silvia, Bello, Luca, Bonfiglio, Serena, De Sanctis, Roberto, Rolle, Enrica, Bianco, Flaviana, Magri, Francesca, Rossi, Francesca, Vasco, Gessica, Vita, GianLuca, Motta, Maria Chiara, Donati, Maria Alice, Sacchini, Michele, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Previtali, Stefano, Napolitano, Sara, Bruno, Claudio, Politano, Luisa, Comi, Giacomo Pietro, Bertini, Enrico, Mercuri, Eugenio

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Correction: 24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy gan Mazzone, Elena Stacy, Pane, Marika, Sormani, Maria Pia, Scalise, Roberta, Berardinelli, Angela, Messina, Sonia, Torrente, Yvan, D’Amico, Adele, Doglio, Luca, Viggiano, Emanuela, D’Ambrosio, Paola, Cavallaro, Filippo, Frosini, Silvia, Bello, Luca, Bonfiglio, Serena, De Sanctis, Roberto, Rolle, Enrica, Bianco, Flaviana, Magri, Francesca, Rossi, Francesca, Vasco, Gessica, Vita, GianLuca, Motta, Maria Chiara, Donati, Maria Alice, Sacchini, Michele, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Previtali, Stefano, Napolitano, Sara, Bruno, Claudio, Politano, Luisa, Comi, Giacomo Pietro, Bertini, Enrico, Mercuri, Eugenio

Cael y testun llawn Cael y testun llawn

Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes gan Pane, Marika, Mazzone, Elena Stacy, Sivo, Serena, Sormani, Maria Pia, Messina, Sonia, D′Amico, Adele, Carlesi, Adelina, Vita, Gianluca, Fanelli, Lavinia, Berardinelli, Angela, Torrente, Yvan, Lanzillotta, Valentina, Viggiano, Emanuela, D′Ambrosio, Paola, Cavallaro, Filippo, Frosini, Silvia, Barp, Andrea, Bonfiglio, Serena, Scalise, Roberta, De Sanctis, Roberto, Rolle, Enrica, Graziano, Alessandra, Magri, Francesca, Palermo, Concetta, Rossi, Francesca, Donati, Maria Alice, Sacchini, Michele, Arnoldi, Maria Teresa, Baranello, Giovanni, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Previtali, Stefano, Bruno, Claudio, Politano, Luisa, Comi, Giacomo P., Bertini, Enrico, Mercuri, Eugenio

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn