תוצאות חיפוש - D’AMBROSIO, PAOLA

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

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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 מאת D’AMBROSIO, PAOLA, ORSINI, CHIARA, NIGRO, VINCENZO, POLITANO, LUISA

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

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

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

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

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

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

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

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

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

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

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

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Cardiac involvement in patients with Spinal Muscular Atrophies מאת 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

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

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Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E מאת 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

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24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy מאת 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

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Correction: 24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy מאת 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

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Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes מאת 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

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

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