Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity by Gorgoglione, Domenico, Sabbatini, Daniele, Riguzzi, Pietro, Capece, Giuliana, Pane, Marika, Servidei, Serenella, Briganti, Marta, Sancricca, Cristina, Bruschi, Fabio, Ardissone, Anna, Masson, Riccardo, Gallone, Annamaria, Maggi, Lorenzo, Picillo, Esther, Politano, Luisa, Petrosino, Angela, Vianello, Sara, Penzo, Martina, Villa, Matteo, Sframeli, Maria, Allegra, Cosimo, Barp, Andrea, Di Bari, Alessandra, Salmin, Francesca, Albamonte, Emilio, Colacicco, Giovanni, Panicucci, Chiara, Traverso, Monica, Palermo, Concetta, Lerario, Alberto, Velardo, Daniele, D'Angelo, Maria G, Berardinelli, Angela, Gardani, Alice, Nicotra, Roberta, Parravicini, Stefano, Siciliano, Gabriele, Ricci, Giulia, Torri, Francesca, Gadaleta, Giulio, Urbano, Guido, Rolle, Enrica, Ricci, Federica, D'Amico, Adele, Catteruccia, Michela, Pini, Antonella, Giannotta, Melania, Battini, Roberta, Marinella, Gemma, Previtali, Stefano C, Zambon, Alberto A, Ferlini, Alessandra, Fortunato, Fernanda, Magri, Francesca, Mongini, Tiziana E, Sansone, Valeria A, Bruno, Claudio, Messina, Sonia, Nigro, Vincenzo, Moroni, Isabella, Mercuri, Eugenio, Bello, Luca, Pegoraro, Elena

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Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy by Borland, Holly, Moore, Ursula, Dressman, Heather Gordish, Human, Anri, Mayhew, Anna G., Hilsden, Heather, Rufibach, Laura E., Duong, Tina, Maron, Elke, DeWolf, Brittney, Rose, Kristy, Siener, Catherine, Thiele, Simone, Práxedes, Nieves Sanchez-Aguilera, Canal, Aurélie, Holsten, Scott, Sakamoto, Chikako, Pedrosa-Hernández, Irene, Bello, Luca, Alfano, Lindsay N, Lowes, Linda Pax, James, Meredith K., Straub, Volker

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TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy by Spitali, Pietro, Zaharieva, Irina, Bohringer, Stefan, Hiller, Monika, Chaouch, Amina, Roos, Andreas, Scotton, Chiara, Claustres, Mireille, Bello, Luca, McDonald, Craig M, Hoffman, Eric P, Koeks, Zaida, Eka Suchiman, H, Cirak, Sebahattin, Scoto, Mariacristina, Reza, Mojgan, 't Hoen, Peter A C, Niks, Erik H, Tuffery-Giraud, Sylvie, Lochmüller, Hanns, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke

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Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey by Capasso, Anna, Cicala, Gianpaolo, Ricci, Martina, Pane, Marika, D’Amico, Adele, Bruno, Claudio, Sansone, Valeria Ada, Messina, Sonia, Bello, Luca, Pegoraro, Elena, D’Angelo, Maria Grazia, Masson, Riccardo, Berardinelli, Angela, Pini, Antonella, Ricci, Federica, Mongini, Tiziana Enrica, Coccia, Michela, Nigro, Vincenzo, Trabacca, Antonio, Filosto, Massimiliano, Comi, Giacomo, Magri, Francesca, Barp, Andrea, Battini, Roberta, Previtali, Stefano Carlo, Valentino, Maria Lucia, Diella, Eleonora, Dosi, Claudia, Ruggiero, Lucia, Siciliano, Gabriele, Ricci, Giulia, Catteruccia, Michela, Arpaia, Chiara, Coratti, Giorgia, Norcia, Giulia, Bonanno, Silvia, Verriello, Lorenzo, Agosto, Caterina, Varone, Antonio, Ferlini, Alessandra, Maioli, Maria Antonietta, Brogna, Claudia, Siliquini, Sabrina, Bruno, Irene, Panicucci, Chiara, Allegra, Cosimo, Albamonte, Emilio, Mercuri, Eugenio

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Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study by Vicino, Alex, Bello, Luca, Bonanno, Silvia, Govoni, Alessandra, Cerri, Federica, Ferraro, Manfredi, Capece, Giuliana, Gadaleta, Giulio, Meneri, Megi, Vacchiano, Veria, Ricci, Giulia, D'Errico, Eustachio, Tramacere, Irene, Banfi, Paolo, Bortolani, Sara, Zanin, Riccardo, Maioli, Maria Antonietta, Silvestrini, Mauro, Previtali, Stefano Carlo, Berardinelli, Angela, Turri, Mara, Coccia, Michela, Mantegazza, Renato, Liguori, Rocco, Filosto, Massimiliano, Siciliano, Gabriele, Simone, Isabella Laura, Mongini, Tiziana, Comi, Giacomo, Pegoraro, Elena, Maggi, Lorenzo

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Redefining phenotypes associated with mitochondrial DNA single deletion by Mancuso, Michelangelo, Orsucci, Daniele, Angelini, Corrado, Bertini, Enrico, Carelli, Valerio, Comi, Giacomo Pietro, Donati, Maria Alice, Federico, Antonio, Minetti, Carlo, Moggio, Maurizio, Mongini, Tiziana, Santorelli, Filippo Maria, Servidei, Serenella, Tonin, Paola, Toscano, Antonio, Bruno, Claudio, Bello, Luca, Caldarazzo Ienco, Elena, Cardaioli, Elena, Catteruccia, Michela, Da Pozzo, Paola, Filosto, Massimiliano, Lamperti, Costanza, Moroni, Isabella, Musumeci, Olimpia, Pegoraro, Elena, Ronchi, Dario, Sauchelli, Donato, Scarpelli, Mauro, Sciacco, Monica, Valentino, Maria Lucia, Vercelli, Liliana, Zeviani, Massimo, Siciliano, Gabriele

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The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study by Neri, Marcella, Rossi, Rachele, Trabanelli, Cecilia, Mauro, Antonio, Selvatici, Rita, Falzarano, Maria Sofia, Spedicato, Noemi, Margutti, Alice, Rimessi, Paola, Fortunato, Fernanda, Fabris, Marina, Gualandi, Francesca, Comi, Giacomo, Tedeschi, Silvana, Seia, Manuela, Fiorillo, Chiara, Traverso, Monica, Bruno, Claudio, Giardina, Emiliano, Piemontese, Maria Rosaria, Merla, Giuseppe, Cau, Milena, Marica, Monica, Scuderi, Carmela, Borgione, Eugenia, Tessa, Alessandra, Astrea, Guia, Santorelli, Filippo Maria, Merlini, Luciano, Mora, Marina, Bernasconi, Pia, Gibertini, Sara, Sansone, Valeria, Mongini, Tiziana, Berardinelli, Angela, Pini, Antonella, Liguori, Rocco, Filosto, Massimiliano, Messina, Sonia, Vita, Gianluca, Toscano, Antonio, Vita, Giuseppe, Pane, Marika, Servidei, Serenella, Pegoraro, Elena, Bello, Luca, Travaglini, Lorena, Bertini, Enrico, D'Amico, Adele, Ergoli, Manuela, Politano, Luisa, Torella, Annalaura, Nigro, Vincenzo, Mercuri, Eugenio, Ferlini, Alessandra

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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

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Burden, professional support, and social network in families of children and young adults with muscular dystrophies by Magliano, Lorenza, Patalano, Melania, Sagliocchi, Alessandra, Scutifero, Marianna, Zaccaro, Antonella, D'angelo, Maria Grazia, Civati, Federica, Brighina, Erika, Vita, Giuseppe, Vita, Gian Luca, Messina, Sonia, Sframeli, Maria, Pane, Marika, Lombardo, Maria Elena, Scalise, Roberta, D'amico, Adele, Colia, Giulia, Catteruccia, Michela, Balottin, Umberto, Berardinelli, Angela, Chiara Motta, Maria, Angelini, Corrado, Gaiani, Alessandra, Semplicini, Claudio, Bello, Luca, Battini, Roberta, Astrea, Guja, Politano, Luisa

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Non-Invasive Ventilation for Acute Respiratory Failure in Duchenne Muscular Dystrophy Patients by Vianello, Andrea, Arcaro, Giovanna, Guarnieri, Gabriella, Sukthi, Andi, Molena, Beatrice, Turato, Cristian, Braccioni, Fausto, Gallan, Federico, Lugato, Francesca, Turrin, Martina, Bello, Luca, Navalesi, Paolo

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Whole‐Body Muscle Magnetic Resonance Imaging in Glycogen‐Storage Disease Type III by Tobaly, David, Laforêt, Pascal, Perry, Ariane, Habes, Dalila, Labrune, Philippe, Decostre, Valerie, Masingue, Marion, Petit, Francois, Barp, Andrea, Bello, Luca, Carlier, Pierre, Carlier, Robert‐Yves

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Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy by Coratti, Giorgia, Lenkowicz, Jacopo, Norcia, Giulia, Lucibello, Simona, Ferraroli, Elisabetta, d'Amico, Adele, Bello, Luca, Pegoraro, Elena, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Berardinelli, Angela, Masson, Riccardo, Previtali, Stefano C, D'angelo, Grazia, Magri, Francesca, Comi, Giacomo P, Politano, Luisa, Passamano, Luigia, Vita, Gianluca, Sansone, Valeria A, Albamonte, Emilio, Panicucci, Chiara, Bruno, Claudio, Pini, Antonella, Bertini, Enrico, Patarnello, Stefano, Pane, Marika, Mercuri, Eugenio

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Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy by Hogarth, Marshall W., Houweling, Peter J., Thomas, Kristen C., Gordish-Dressman, Heather, Bello, Luca, Pegoraro, Elena, Hoffman, Eric P., Head, Stewart I., North, Kathryn N.

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Genetic modifiers of upper limb function in Duchenne muscular dystrophy by Sabbatini, Daniele, Fusto, Aurora, Vianello, Sara, Villa, Matteo, Janik, Joanna, D’Angelo, Grazia, Diella, Eleonora, Magri, Francesca, Comi, Giacomo P., Panicucci, Chiara, Bruno, Claudio, D’Amico, Adele, Bertini, Enrico, Astrea, Guja, Battini, Roberta, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Previtali, Stefano C., Messina, Sonia, Vita, Gianluca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio, Hoffman, Eric P., Morgenroth, Lauren, Gordish-Dressman, Heather, Duong, Tina, McDonald, Craig M., Bello, Luca, Pegoraro, Elena

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Influence of β 2 adrenergic receptor genotype on longitudinal measures of forced vital capacity in patients with Duchenne muscular dystrophy by Kelley, Eli F, Cross, Troy J, McDonald, Craig M, Hoffman, Eric P, Bello, Luca

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Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy by Campbell, Craig, McColl, Elaine, McDermott, Michael P., Martens, William B., Guglieri, Michela, Griggs, Robert C., Straub, Volker, Childs, Anne-Marie, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Butterfield, Russell J., Horrocks, Iain, Roper, Helen, Maggi, Lorenzo, Baranello, Giovanni, Flanigan, Kevin M., Kuntz, Nancy L., Manzur, Adnan Y., Darras, Basil T., Kang, Peter, Mah, Jean K., Mongini, Tiziana, Ricci, Federica, Morrison, Leslie, Krzesniak-Swinarska, Monika, von der Hagen, Maja, Finkel, Richard S., Kumar, Ashutosh, Wicklund, Matthew, McDonald, Craig M., Henricson, Erik K., Schara-Schmidt, Ulrike, Wilichowski, Ekkehard, Barohn, Richard J., Statland, Jeffrey, Kirschner, Janbernd, Vita, Giuseppe, Vita, Gian Luca, Howard, James F., Hughes, Imelda, McMillan, Hugh J., Pegoraro, Elena, Bello, Luca, Burnette, W. Bryan, Thangarajh, Mathula, Chang, Taeun

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North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up by Coratti, Giorgia, Pane, Marika, Brogna, Claudia, 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, Hogrel, Jean Yves, Straub, Volker, De Lucia, Silvana, Niks, Erik, Servais, Laurent, De Groot, Imelda, Chesshyre, Mary, Bertini, Enrico, Goemans, Nathalie, Muntoni, Francesco, Mercuri, Eugenio

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Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy by Nghiem, Peter P., Bello, Luca, Balog-Alvarez, Cindy, López, Sara Mata, Bettis, Amanda, Barnett, Heather, Hernandez, Briana, Schatzberg, Scott J., Piercy, Richard J., Kornegay, Joe N.

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6MWT as measure of motor function and endurance in SMA type 3 patients treated with nusinersen by Govoni, Alessandra, Ricci, Giulia, Maggi, Lorenzo, Meneri, Megi, Bonanno, Silvia, Bello, Luca, Caponnetto, Claudia, Passamano, Luigia, Grandis, Marina, Trojsi, Francesca, Cerri, Federica, Gadaleta, Giulio, Bozzoni, Virginia, Caumo, Luca, Piras, Rachele, Tanel, Raffaella, Saccani, Elena, Vacchiano, Veria, Sorarù, Gianni, D'Errico, Eustachio, Tramacere, Irene, Bortolani, Sara, Pavesi, Giovanni, Riccardo, Zanin, Silvestrini, Mauro, Politano, Luisa, Schenone, Angelo, Previtali, Stefano, Berardinelli, Angela, Turri, Mara, Verriello, Lorenzo, Coccia, Michela, Mantegazza, Renato, Liguori, Rocco, Filosto, Massimiliano, Maioli, Mariantonietta, Marrosu, Gianni, Simone, Isabella, Mongini, Tiziana Enrica, Pegoraro, Elena, Corti, Stefania, Siciliano, Gabriele, Comi, Giacomo Pietro

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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

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