Bone Health Determinants in Ambulant Prepubertal Boys With Duchenne Muscular Dystrophy Treated With Deflazacort: Findings From a 3‐Year Study by Panicucci, Chiara, Casalini, Sara, Angelelli, Alessia, Brolatti, Noemi, Pedemonte, Marina, Patti, Giuseppa, Maghnie, Mohamad, Bruno, Claudio, Di Iorgi, Natascia

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders by Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry

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A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy by Cassandrini, Denise, Calevo, Maria Grazia, Tessa, Alessandra, Manfredi, Giovanni, Fattori, Fabiana, Meschini, Maria Chiara, Carrozzo, Rosalba, Tonoli, Emmanuel, Pedemonte, Marina, Minetti, Carlo, Zara, Federico, Santorelli, Filippo M., Bruno, Claudio

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Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial by Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Xiong, Hui, Bruno, Claudio, Day, John W, Deconinck, Nicolas, Klein, Andrea, Mercuri, Eugenio, Wang, Yi, Dodman, Angela, Gaki, Eleni, Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Khwaja, Omar, Scalco, Renata S, Seabrook, Timothy, Koch, Armin, Balikova, Irina, Tahon, Valentine, De Vos, Elke, de Holanda Mendonça, Rodrigo, Machado, Cleide, Polido, Graziela, Hu, Chaoping, Qian, Chen, Li, Hui, Zhou, Shuizhen, Zhou, Zhenxuan, Wei, Cuijie, Dong, Hui, Wen, Jing, Qin, Lun, Celovec, Ivan, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Boespflug-Tanguy, Odile, De Lucia, Silvana, Barreau, Emmanuel, Mnafek, Nabila, Peche, Helene, Pagliano, Emanuela, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Tremolada, Gemma, Vigano, Marta, Dosi, Claudia, Zanin, Riccardo, Schembri, Veronica, Brolatti, Noemi, Rao, Giuseppe, Tassara, Elisa, Sposetti, Lorenza, Govoni, Alessandra, Osnaghi, Silvia Gabriella, Minorini, Valeria, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amalia, Pane, Marika, Palermo, Concetta, Barresi, Costanza, Orazi, Lorenzo, Laura, Antonaci, De Sanctis, Roberto, Berti, Beatrice, Kimura, Naoki, Shimomura, Hideki, Lee, Tomoko, Morimatsu, Takanobu, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Modrzejewska, Sandra, Lemska, Anna, Melnik, Evgenia, Leppenen, Natalya, Papina, Yulia, Shidlovsckaia, Olga, Enzmann, Cornelia, Wondrusch Haschke, Christine, Topaloglu, Haluk, Oncel, Ibrahim, Ertugrul, Nesibe Eroglu, Konuskan, Bahadir, Alemdaroglu, Ipek, Sari, Seher, Karaduman, Aynur Ayse, Graham, Robert J, Ghosh, Partha, Levine, Alexis, Engelbrekt, Amanda, Ambrosio, Lucia, Baglieri, Anna Maria, Maczek, Elizabeth, Duong, Tina, Young, Sally

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Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy by Panicucci, Chiara, Sahin, Eray, Bartolucci, Martina, Casalini, Sara, Brolatti, Noemi, Pedemonte, Marina, Baratto, Serena, Pintus, Sara, Principi, Elisa, D’Amico, Adele, Pane, Marika, Sframeli, Marina, Messina, Sonia, Albamonte, Emilio, Sansone, Valeria A., Mercuri, Eugenio, Bertini, Enrico, Sezerman, Ugur, Petretto, Andrea, Bruno, Claudio

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Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function by Pane, Marika, Palermo, Concetta, Messina, Sonia, Sansone, Valeria A, Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D'Amico, Adele, Brigati, Giorgia, de Sanctis, Roberto, Coratti, Giorgia, Lucibello, Simona, Bertini, Enrico, Vita, Giuseppe, Tiziano, Francesco Danilo, Mercuri, Eugenio

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Predictive energy equations for spinal muscular atrophy type I children by Bertoli, Simona, De Amicis, Ramona, Bedogni, Giorgio, Foppiani, Andrea, Leone, Alessandro, Ravella, Simone, Mastella, Chiara, Baranello, Giovanni, Masson, Riccardo, Bertini, Enrico, D’Amico, Adele, Pedemonte, Marina, Bruno, Claudio, Agosto, Caterina, Giaquinto, Ester, Bassano, Michela, Battezzati, Alberto

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Age and baseline values predict 12 and 24-month functional changes in type 2 SMA by Coratti, Giorgia, Pera, Maria C, Lucibello, Simona, Montes, Jacqueline, Pasternak, Amy, Mayhew, Anna, Glanzman, Allan M, Young, Sally Dunaway, Pane, Marika, Scoto, Mariacristina, Messina, Sonia, Goemans, Nathalie, Osorio, Andres Nascimiento, Pedemonte, Marina, Sansone, Valeria, Bertini, Enrico, De Vivo, Darryl C., Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio

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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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Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation by Foppiani, Andrea, De Amicis, Ramona, Leone, Alessandro, Ravella, Simone, Bedogni, Giorgio, Battezzati, Alberto, D'Amico, Adele, Bertini, Enrico, Pedemonte, Marina, Bruno, Claudio, Agosto, Caterina, Mastella, Chiara, Giaquinto, Ester, Masson, Riccardo, Baranello, Giovanni, Bertoli, Simona

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Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course by Croci, Carolina, Traverso, Monica, Baratto, Serena, Iacomino, Michele, Pedemonte, Marina, Caroli, Francesco, Scala, Marcello, Bruno, Claudio, Fiorillo, Chiara

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Long term follow-up of scoliosis progression in type II SMA patients by Coratti, Giorgia, Pera, Maria Carmela, D'Amico, Adele, Bruno, Claudio, Bovis, Francesca, Gullì, Consolato, Brolatti, Noemi, Pedemonte, Marina, Apicella, Massimo, Antonaci, Laura, Ricci, Martina, Capasso, Anna, Cicala, Gianpaolo, Cutrona, Costanza, de Sanctis, Roberto, Carnicella, Sara, Forcina, Nicola, Catteruccia, Michela, Damasio, Maria Beatrice, Labianca, Luca, Leone, Antonio, Bertini, Enrico, Pane, Marika, Mercuri, Eugenio

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Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial by Trucco, Federica, Pedemonte, Marina, Racca, Fabrizio, Falsaperla, Raffaele, Romano, Catia, Wenzel, Anette, D’Agostino, Alessia, Pistorio, Angela, Tacchetti, Paola, Bella, Cristina, Bruno, Claudio, Minetti, Carlo

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Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1 by Brolatti, Noemi, Trucco, Federica, Ferretti, Marta, Avanti, Chiara, Tacchetti, Paola, Panicucci, Chiara, Striano, Pasquale, Minetti, Carlo, Bruno, Claudio, Pedemonte, Marina

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Respiratory pattern in a FSHD pediatric population by Trucco, Federica, Pedemonte, Marina, Fiorillo, Chiara, Tacchetti, Paola, Brisca, Giacomo, Bruno, Claudio, Minetti, Carlo

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Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation by Accogli, Andrea, Shakya, Saurabh, Yang, Taewoo, Insinna, Christine, Kim, Soo Yeon, Bell, David, Butov, Kirill R., Severino, Mariasavina, Niceta, Marcello, Scala, Marcello, Lee, Hyun Sik, Yoo, Taekyeong, Stauffer, Jimmy, Zhao, Huijie, Fiorillo, Chiara, Pedemonte, Marina, Diana, Maria C., Baldassari, Simona, Zakharova, Viktoria, Shcherbina, Anna, Rodina, Yulia, Fagerberg, Christina, Roos, Laura Sønderberg, Wierzba, Jolanta, Dobosz, Artur, Gerard, Amanda, Potocki, Lorraine, Rosenfeld, Jill A., Lalani, Seema R., Scott, Tiana M., Scott, Daryl, Azamian, Mahshid S., Louie, Raymond, Moore, Hannah W., Champaigne, Neena L., Hollingsworth, Grace, Torella, Annalaura, Nigro, Vincenzo, Ploski, Rafal, Salpietro, Vincenzo, Zara, Federico, Pizzi, Simone, Chillemi, Giovanni, Ognibene, Marzia, Cooney, Erin, Do, Jenny, Linnemann, Anders, Larsen, Martin J., Specht, Suzanne, Walters, Kylie J., Choi, Hee-Jung, Choi, Murim, Tartaglia, Marco, Youkharibache, Phillippe, Chae, Jong-Hee, Capra, Valeria, Park, Sung-Gyoo, Westlake, Christopher J.

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The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment by Fiorillo, Chiara, Capodivento, Giovanna, Geroldi, Alessandro, Tozza, Stefano, Moroni, Isabella, Mohassel, Payam, Cataldi, Matteo, Campana, Chiara, Morando, Simone, Panicucci, Chiara, Pedemonte, Marina, Brolatti, Noemi, Siliquini, Sabrina, Traverso, Monica, Baratto, Serena, Debellis, Doriana, Magri, Stefania, Prada, Valeria, Bellone, Emilia, Salpietro, Vincenzo, Donkervoort, Sandra, Gable, Kenneth, Gupta, Sita D., Dunn, Teresa M., Bönnemann, Carsten G., Taroni, Franco, Bruno, Claudio, Schenone, Angelo, Mandich, Paola, Nobbio, Lucilla, Nolano, Maria

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The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure by Sansone, Valeria A., Pirola, Alice, Lizio, Andrea, Greco, Lucia Catherine, Coratti, Giorgia, Casiraghi, Jacopo, Pane, Marika, Pera, Maria Carmela, Italiano, Cristina, Messina, Sonia, Pozzi, Susanna, Sframeli, Maria, D'Amico, Adele, Bertini, Enrico, Bruno, Claudio, Mauro, Luca, Salmin, Francesca, Stancanelli, Claudia, Pedemonte, Marina, Albamonte, Emilio, Zizzi, Christine, Heatwole, Chad, Mercuri, Eugenio

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Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies by Pane, Marika, Berti, Beatrice, Capasso, Anna, Coratti, Giorgia, Varone, Antonio, D’Amico, Adele, Messina, Sonia, Masson, Riccardo, Sansone, Valeria Ada, Donati, Maria Alice, Agosto, Caterina, Bruno, Claudio, Ricci, Federica, Pini, Antonella, Gagliardi, Delio, Filosto, Massimiliano, Corti, Stefania, Leone, Daniela, Palermo, Concetta, Onesimo, Roberta, De Sanctis, Roberto, Ricci, Martina, Bitetti, Ilaria, Sframeli, Maria, Dosi, Claudia, Albamonte, Emilio, Ticci, Chiara, Brolatti, Noemi, Bertini, Enrico, Finkel, Richard, Mercuri, Eugenio, Pera, Maria Carmela, Bravetti, Chiara, Piastra, Marco, Genovese, Orazio, Cicala, Gianpaolo, Forcina, Nicola, Carnicella, Sara, Stanca, Giulia, Sacchini, Michele, Catteruccia, Michela, Tosi, Michele, Cutrera, Renato, Cherchi, Claudio, Chiarini, Maria Beatrice, Salmin, Francesca, Pedemonte, Marina, Govoni, Alessandra, Mizzoni, Irene, Morando, Simone, Zanin, Riccardo, Rolle, Enrica, Salomon, Eleonora, Giannotta, Melania, Scarpini, Gaia, Toscano, Antonio, Gitto, Eloisa, Materia, Roberto, D’Alessandro, Rossella

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Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings by Scala, Marcello, Brigati, Giorgia, Fiorillo, Chiara, Nesti, Claudia, Rubegni, Anna, Pedemonte, Marina, Bruno, Claudio, Severino, Mariasavina, Derchi, Maria, Minetti, Carlo, Santorelli, F. M.

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