Søgeresultater - D’AMBROSIO, PAOLA

On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy af 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 af 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 af Papa, Andrea Antonio, D'Ambrosio, Paola, Petillo, Roberta, Palladino, Alberto, Politano, Luisa

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Genetic counseling in Pompe disease af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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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