檢索結果 - D’AMBROSIO, PAOLA

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

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Genetic counseling in Pompe disease 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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