Search Results - "Carlesi, Adelina"

Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies by D'Amico, Adele, Longo, Antonella, Fattori, Fabiana, Tosi, Michele, Bosco, Luca, Chiarini Testa, Maria Beatrice, Paglietti, Maria Giovanna, Cherchi, Claudio, Carlesi, Adelina, Mizzoni, Irene, Bertini, Enrico

“…X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically…”
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Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes by 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

“…The 6 minute walk test has been recently chosen as the primary outcome measure in international multicenter clinical trials in Duchenne muscular dystrophy…”
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Correction to: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies by D'Amico, Adele, Longo, Antonella, Fattori, Fabiana, Tosi, Michele, Bosco, Luca, Testa, Maria Beatrice Chiarini, Paglietti, Maria Giovanna, Cherchi, Claudio, Carlesi, Adelina, Mizzoni, Irene, Bertini, Enrico

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Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes by 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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Cognitive, adaptive and perseverative aspects characterization of children with XLMTM: An explorative study by Cumbo, Francesca, Tosi, Michele, Mizzoni, Irene, Catteruccia, Michela, Carlesi, Adelina, Bertini, Enrico, D'Amico, Adele

“…X-Linked Myotubular Myopathy (XLMTM) is a severe congenital myopathy, potentially fatal within the first years. Patients present several complications and…”
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Evolution of neuropsychological and behavioral profile in a cohort of pediatric patients with Becker muscular dystrophy in a longitudinal study by Cumbo, Francesca, Tosi, Michele, Catteruccia, Michela, Diodato, Daria, Nicita, Francesco, Mizzoni, Irene, De Luca, Giacomo, Carlesi, Adelina, Alfieri, Paolo, Vicari, Stefano, Bertini, Enrico Silvio, D'Amico, Adele

“…•Neuropsychological deficits may be present in dystrophinopathies.•Neurocognitive profile has been less explored in patients with Becker Muscular…”
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Neurocognitive profile of a cohort of SMA type 1 pediatric patients and emotional aspects, resilience and coping strategies of their caregivers by Tosi, Michele, Cumbo, Francesca, Catteruccia, Michela, Carlesi, Adelina, Mizzoni, Irene, De Luca, Giacomo, Cherchi, Claudio, Cutrera, Renato, Bertini, Enrico, D'Amico, Adele

“…Spinal muscular atrophy (SMA) type 1 represents the most severe condition of the spectrum of SMA 5q. In the absence of therapeutic interventions, patients do…”
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Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53 by Brogna, Claudia, Coratti, Giorgia, Pane, Marika, Ricotti, Valeria, Messina, Sonia, D'Amico, Adele, Bruno, Claudio, Vita, Gianluca, Berardinelli, Angela, Mazzone, Elena, Magri, Francesca, Ricci, Federica, Mongini, Tiziana, Battini, Roberta, Bello, Luca, Pegoraro, Elena, Baranello, Giovanni, Previtali, Stefano C, Politano, Luisa, Comi, Giacomo P, Sansone, Valeria A, Donati, Alice, Bertini, Enrico, Muntoni, Francesco, Goemans, Nathalie, Mercuri, Eugenio

“…The aim of this international collaborative effort was to report 36-month longitudinal changes using the 6MWT in ambulant patients affected by Duchenne…”
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Craniopagus: a proposed nursing care protocol by Pannacci, Ilaria, de Laurentis, Camilla, Cristaldi, Paola, Renzetti, Tommaso, Armani, Riccarda, Pianura, Luca, Recchiuti, Veronica, Carlesi, Adelina, Santato, Francesca, Franci, Marina, Serafini, Laura, Latini, Barbara, Marras, Carlo Efisio

“…Craniopagus is a rare condition in which the skulls of conjoined twins, and the neurovascular structures in their skulls, are incompletely separated…”
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Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study by Coratti, Giorgia, Bovis, Francesca, Pera, Maria Carmela, Scoto, Mariacristina, Montes, Jacqueline, Pasternak, Amy, Mayhew, Anna, Muni‐Lofra, Robert, Duong, Tina, Rohwer, Annemarie, Dunaway Young, Sally, Civitello, Matthew, Salmin, Francesca, Mizzoni, Irene, Morando, Simone, Pane, Marika, Albamonte, Emilio, D'Amico, Adele, Brolatti, Noemi, Sframeli, Maria, Marini‐Bettolo, Chiara, Sansone, Valeria Ada, Bruno, Claudio, Messina, Sonia, Bertini, Enrico, Baranello, Giovanni, Day, John, Darras, Basil T., De Vivo, Darryl C., Hirano, Michio, Muntoni, Francesco, Finkel, Richard, Mercuri, Eugenio, Antonaci, Laura, De Sanctis, Roberto, Carnicella, Sara, Forcina, Nicola, Norcia, Giulia, Stanca, Giulia, Fanelli, Lavinia, De Luca, Giacomo, Carlesi, Adelina, Colia, Giulia, Bravetti, Chiara, Rossi, Diletta, Rodriguez‐Torres, Rafael

“…Background and purpose Spinal muscular atrophy (SMA) is a rare and progressive neuromuscular disorder with varying severity levels. The aim of the study was to…”
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An observational study of functional abilities in infants, children, and adults with type 1 SMA by Pane, Marika, Palermo, Concetta, Messina, Sonia, Sansone, Valeria A, Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, DʼAmico, Adele, Brigati, Giorgia, de Sanctis, Roberto, Coratti, Giorgia, Lucibello, Simona, Bertini, Enrico, Vita, Giuseppe, Danilo Tiziano, Francesco, Mercuri, Eugenio

“…OBJECTIVETo report cross-sectional clinical findings in a large cohort of patients affected by type 1 spinal muscular atrophy. METHODSWe included 122 patients,…”
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North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy by Mazzone, Elena, Martinelli, Diego, Berardinelli, Angela, Messina, Sonia, D’Amico, Adele, Vasco, Gessica, Main, Marion, Doglio, Luca, Politano, Luisa, Cavallaro, Filippo, Frosini, Silvia, Bello, Luca, Carlesi, Adelina, Bonetti, Anna Maria, Zucchini, Elisabetta, Sanctis, Roberto De, Scutifero, Marianna, Bianco, Flaviana, Rossi, Francesca, Motta, Maria Chiara, Sacco, Annalisa, Donati, Maria Alice, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Pane, Marika, Pasquini, Elisabetta, Bruno, Claudio, Vita, Giuseppe, Waure, Chiara de, Bertini, Enrico, Mercuri, Eugenio

“…Abstract The North Star Ambulatory Assessment is a functional scale specifically designed for ambulant boys affected by Duchenne muscular dystrophy (DMD)…”
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Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience by Messina, Sonia, Pane, Marika, Sansone, Valeria, Bruno, Claudio, Catteruccia, Michela, Vita, Giuseppe, Palermo, Concetta, Albamonte, Emilio, Pedemonte, Marina, Bertini, Enrico, Binetti, Luca, Mercuri, Eugenio, Lauro, Daniela, Pallara, Anita, Spinoglio, Simona, Solinas, Maria Letizia, Zappa, Grazia, Penno, Francesca, Ponzanelli, Cristina, Casiraghi, Jacopo, Villanova, Marcello, Tiziano, Danilo, Mandelli, Anna, Mastella, Chiara, Fontana, Alberto, Ambrosini, Anna, Leone, Daniela, de Sanctis, Roberto, Forcina, Nicola, Piastra, Marco, Genovese, Orazio, Pedicelli, Alessandro, Sframeli, Maria, Versaci, Antonio, Rulli, Imma, Gitto, Eloisa, Faraone, Cristina, La Foresta, Stefania, Macrì, Maria, D'Amico, Adele, Colia, Giulia, Bonetti, Anna Maria, Carlesi, Adelina, Cutrera, Renato, Chiarini, Maria Beatrice, Ferretti, Marta, Garaventa, Alberto, Montobbio, Giovanni, Gandolfo, Carlo, Iurilli, Valentina, Tacchetti, Paola, Bobeica, Emilia, D'Agostino, Alessia, Pirola, Alice, Luppone, Sara, De Mattia, Elisa, Falcier, Elisa, Rao, Fabrizio, Fedeli, Fausto, Mancini, Luca, Stoia, Paolo, Heinen, Maurizio, Cozzi, Valeria, Travaglia, Beatrice, Mizzotti, Emma

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Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test by 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

“…Highlights • The paper reports the effect of steroids on upper limb function in non ambulant DMD boys. • Boys continuing steroids after loss of ambulation…”
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A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript “single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1” written by pechmann and colleagues by Sansone, V.A., Pane, M., Messina, S., Bruno, C., D'Amico, A., Albamonte, E., Catteruccia, M., Sframeli, M., Pedemonte, M., Vita, G., Bertini, E., Mercuri, E., Leone, Daniela, de Sanctis, Roberto, Forcina, Nicola, Piastra, Marco, Genovese, Orazio, Pedicelli, Alessandro, Versaci, Antonio, Rulli, Imma, Gitto, Eloisa, Faraone, Cristina, La Foresta, Stefania, Macrì, Maria, Colia, Giulia, Bonetti, Anna Maria, Carlesi, Adelina, Cutrera, Renato, Chiarini, Maria Beatrice, Ferretti, Marta, Garaventa, Alberto, Montobbio, Giovanni, Gandolfo, Carlo, Iurilli, Valentina, Tacchetti, Paola, Bobeica, Emilia, D'Agostino, Alessia, Pirola, Alice, Lupone, Sara, De Mattia, Elisa, Falcier, Elisa, Rao, Fabrizio, Casiraghi, Jacopo, Salmin, Francesca, Grandi, Cristina, Fedeli, Fausto, Mancini, Luca, Stoia, Paolo, Heinen, Maurizio, Cozzi, Valeria, Travaglia, Beatrice, Mizzotti, Emma

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