270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10–12 March, 2023, Hoofddorp, the Netherlands von Abiusi, Emanuela, Costa-Roger, Mar, Bertini, Enrico Silvio, Tiziano, Francesco Danilo, Tizzano, Eduardo F., Abiusi, Dr Emanuela, Baranello, Dr Giovanni, Bertini, Prof. Enrico, Boemer, Dr François, Burghes, Prof. Arthur, Codina-Solà, Dr Marta, Costa-Roger, Dr Mar, Dangouloff, Dr Tamara, Groen, Dr Ewout, Gos, Dr Monika, Jędrzejowska, Dr Maria, Kirschner, Prof. Janbernd, Lemmink, Dr Henny H, Müller-Felber, Prof. Wolfgang, Ouillade, Ms Marie-Christine, Quijano-Roy, Prof. Susana, Rucinski, Mr Kacper, Saugier-Veber, Dr Pascale, Tiziano, Prof. Francesco Danilo, Tizzano, Prof. Eduardo Fidel, Wirth, Prof. Brunhilde

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Metastatic tumour cells favour the generation of a tolerogenic milieu in tumour draining lymph node in patients with early cervical cancer von Battaglia, Alessandra, Buzzonetti, Alexia, Baranello, Cinzia, Ferrandina, Gabriella, Martinelli, Enrica, Fanfani, Francesco, Scambia, Giovanni, Fattorossi, Andrea

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Relationship between growth and ambulation loss in Duchenne muscular dystrophy boys on steroids von Stimpson, Georgia, Ridout, Deborah, Sarkozy, Anna, Manzur, Adnan, Muntoni, Francesco, Baranello, Giovanni

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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 von 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

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Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment? von Vicari, Stefano, Piccini, Giorgia, Mercuri, Eugenio, Battini, Roberta, Chieffo, Daniela, Bulgheroni, Sara, Pecini, Chiara, Lucibello, Simona, Lenzi, Sara, Moriconi, Federica, Pane, Marika, D'Amico, Adele, Astrea, Guja, Baranello, Giovanni, Riva, Daria, Cioni, Giovanni, Alfieri, Paolo

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Growth patterns in children with spinal muscular atrophy von De Amicis, Ramona, Baranello, Giovanni, Foppiani, Andrea, Leone, Alessandro, Battezzati, Alberto, Bedogni, Giorgio, Ravella, Simone, Giaquinto, Ester, Mastella, Chiara, Agosto, Caterina, Bertini, Enrico, D'Amico, Adele, Pedemonte, Marina, Bruno, Claudio, Wells, Jonathan C, Fewtrell, Mary, Bertoli, Simona

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Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy A Randomized Clinical Trial von Guglieri, Michela, Clemens, Paula R, Perlman, Seth J, Smith, Edward C, Horrocks, Iain, Finkel, Richard S, Mah, Jean K, Deconinck, Nicolas, Goemans, Nathalie, Haberlova, Jana, Straub, Volker, Mengle-Gaw, Laurel J, Schwartz, Benjamin D, Harper, Amy D, Shieh, Perry B, De Waele, Liesbeth, Castro, Diana, Yang, Michelle L, Ryan, Monique M, McDonald, Craig M, Tulinius, Mar, Webster, Richard, McMillan, Hugh J, Kuntz, Nancy L, Rao, Vashmi K, Baranello, Giovanni, Spinty, Stefan, Childs, Anne-Marie, Sbrocchi, Annie M, Selby, Kathryn A, Monduy, Migvis, Nevo, Yoram, Vilchez-Padilla, Juan J, Nascimento-Osorio, Andres, Niks, Erik H, de Groot, Imelda J.M, Katsalouli, Marina, James, Meredith K, van den Anker, Johannes, Damsker, Jesse M, Ahmet, Alexandra, Ward, Leanne M, Jaros, Mark, Shale, Phil, Dang, Utkarsh J, Hoffman, Eric P

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Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy von Chesshyre, Mary, Ridout, Deborah, Hashimoto, Yasumasa, Ookubo, Yoko, Torelli, Silvia, Maresh, Kate, Ricotti, Valeria, Abbott, Lianne, Gupta, Vandana Ayyar, Main, Marion, Ferrari, Giulia, Kowala, Anna, Lin, Yung‐Yao, Tedesco, Francesco Saverio, Scoto, Mariacristina, Baranello, Giovanni, Manzur, Adnan, Aoki, Yoshitsugu, Muntoni, Francesco

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Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen von Weststrate, Harriet, Stimpson, Georgia, Thomas, Lily, Scoto, Mariacristina, Johnson, Emily, Stewart, Alexandra, Muntoni, Francesco, Baranello, Giovanni, Conway, Eleanor, Manzur, Adnan, Munot, Pinki, Main, Marion, Au‐Yeung, Claudia Kate

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Growth pattern trajectories in boys with Duchenne muscular dystrophy von Stimpson, Georgia, Raquq, Sarah, Chesshyre, Mary, Fewtrell, Mary, Ridout, Deborah, Sarkozy, Anna, Manzur, Adnan, Ayyar Gupta, Vandana, De Amicis, Ramona, Muntoni, Francesco, Baranello, Giovanni

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6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes von Pane, Marika, Mazzone, Elena S, Sormani, Maria Pia, Messina, Sonia, Vita, Gian Luca, Fanelli, Lavinia, Berardinelli, Angela, Torrente, Yvan, D'Amico, Adele, Lanzillotta, Valentina, Viggiano, Emanuela, D'Ambrosio, Paola, Cavallaro, Filippo, Frosini, Silvia, Bello, Luca, Bonfiglio, Serena, Scalise, Roberta, De Sanctis, Roberto, Rolle, Enrica, Bianco, Flaviana, Van der Haawue, Marlene, Magri, Francesca, Palermo, Concetta, Rossi, Francesca, Donati, Maria Alice, Alfonsi, Chiara, Sacchini, Michele, Arnoldi, Maria Teresa, Baranello, Giovanni, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Previtali, Stefano C, Napolitano, Sara, Bruno, Claudio, Politano, Luisa, Comi, Giacomo P, Bertini, Enrico, Morandi, Lucia, Gualandi, Francesca, Ferlini, Alessandra, Goemans, Nathalie, Mercuri, Eugenio

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Muscle magnetic resonance imaging involvement patterns in nemaline myopathies von Perry, Luke, Stimpson, Georgia, Singh, Leeha, Morrow, Jasper M., Shah, Sachit, Baranello, Giovanni, Muntoni, Francesco, Sarkozy, Anna

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Low‐Intensity Vibration Protects the Weight‐Bearing Skeleton and Suppresses Fracture Incidence in Boys With Duchenne Muscular Dystrophy: A Prospective, Randomized, Double‐Blind, Pl... von Bianchi, Maria Luisa, Vai, Silvia, Baranello, Giovanni, Broggi, Francesca, Judex, Stefan, Hangartner, Thomas, Rubin, Clinton

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Different trajectories in upper limb and gross motor function in spinal muscular atrophy von Coratti, Giorgia, Pera, Maria Carmela, Montes, Jacqueline, Pasternak, Amy, Scoto, Mariacristina, Baranello, Giovanni, Messina, Sonia, Dunaway Young, Sally, Glanzman, Allan M., Duong, Tina, De Sanctis, Roberto, Mazzone, Elena Stacy, Milev, Evelin, Rohwer, Annemarie, Civitello, Matthew, Pane, Marika, Antonaci, Laura, Frongia, Anna Lia, Sframeli, Maria, Vita, Gian Luca, DʼAmico, Adele, Mizzoni, Irene, Albamonte, Emilio, Darras, Basil T., Bertini, Enrico, Sansone, Valeria A., Bovis, Francesca, Day, John, Bruno, Claudio, Muntoni, Francesco, De Vivo, Darryl C., Finkel, Richard, Mercuri, Eugenio

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Hyperargininemia: 7-Month Follow-Up Under Sodium Benzoate Therapy in an Italian Child Presenting Progressive Spastic Paraparesis, Cognitive Decline, and Novel Mutation in ARG1 Gene von Baranello, Giovanni, MD, PhD, Alfei, Enrico, MD, Martinelli, Diego, MD, PhD, Rizzetto, Manuela, PhD, Cazzaniga, Fabiana, PsyD, Dionisi-Vici, Carlo, MD, Gellera, Cinzia, PhD, Castellotti, Barbara, PhD

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Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial von Henzi, Bettina C, Schmidt, Simone, Nagy, Sara, Schaedelin, Sabine, Putananickal, Niveditha, Stimpson, Georgia, Ridout, Deborah, Muntoni, Francesco, Main, Marion, Abbott, Lianne, Burnett, Nicola, Rohwer, Anne-Marie, .O'Reilly, Emer, Guglieri, Michela, Bettolo, Chiara, James, Meredith, Sodhi, Jassi, Willis, Tracey, Rylance, Claire, Birchall, Nicola, Childs, Anne-Marie, Pysden, Karen, Martos-Lozano, Cristina, Pallant, Lindsey, Wadsworth, Steph, Gregson, Sarah, Clark, Stuart, Wraige, Elizabeth, Jungbluth, Heinz, Gowda, Vasantha, Sheehan, Ennie, Wolfe, Amy, Schofield, Alex, Hughes, Imelda, McCullagh, Gary, Whitehouse, Emily, Varma, Uma, Warner, Sinead, Reading, Emily, Benson, Lucy, Moustoukas, Jenny, Strachan, Kate, Emery, Nicholas, Ong, Min, Durso, Sarah, White, Kay, Hinde, Neil, Sanchez Marco, Silvia, Saxena, Anurag, Gibbon, Frances, Davis, Hayley, Murugan, Archana, Lynch, Mollie, Milton, Emily, Wills, Lucy, Robertson, Gemma, Cobb, Gavin, Burslem, Julie, Wong, Jarod, Brunklaus, Andreas, DiMarco, Marina, Brown, Sarah, Mckenzie, Susanne, Torne, Krupa, Mohamed, Rana, Velmurugan, Vel, Prasad, Manish, Williamson, Sarah, Degoede, Christian, Geary, Michelle, Palmer, Jenni, Shill, Catherine, White, Cathy, Gates, Sarah, Shah, Ayaz, .McFetridge, Jaci, Nic Fhirleinn, Grainne, Hussain, Nahin, Baskaran, Dhinesh, Lambat, Zubeida, Ambegaonkar, Gautam, Krishnakumar, Deepa, Taylor, Jacqui, Moores, Jo, Servais, Laurent, English, Hayley, Parasuraman, Deepak, Rabb, Rosanna, McMurchie, Heather, Deconinck, Nicolas, de Groot, Imelda, Horrocks, Iain, Houwen-van Opstal, Saskia, Laugel, Vincent, Lopez Lobato, Mercedes, Schara-Schmidt, Ulrike, von Moers, Arpad, Lawrence, Fiona, Hafner, Patricia, Dorchies, Olivier M

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Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy von 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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PDCD10 gene mutations in multiple cerebral cavernous malformations von Cigoli, Maria Sole, Avemaria, Francesca, De Benedetti, Stefano, Gesu, Giovanni P, Accorsi, Lucio Giordano, Parmigiani, Stefano, Corona, Maria Franca, Capra, Valeria, Mosca, Andrea, Giovannini, Simona, Notturno, Francesca, Ciccocioppo, Fausta, Volpi, Lilia, Estienne, Margherita, De Michele, Giuseppe, Antenora, Antonella, Bilo, Leda, Tavoni, Antonietta, Zamponi, Nelia, Alfei, Enrico, Baranello, Giovanni, Riva, Daria, Penco, Silvana

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Outcome measures for Charcot-Marie-Tooth disease: clinical and neurofunctional assessment in children von Pagliano, Emanuela, Moroni, Isabella, Baranello, Giovanni, Magro, Anita, Marchi, Alessia, Bulgheroni, Sara, Ferrarin, Maurizio, Pareyson, Davide

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Hand function assessment in the first years of life in unilateral cerebral palsy: Correlation with neuroimaging and cortico-spinal reorganization von Baranello, Giovanni, Rossi Sebastiano, Davide, Pagliano, Emanuela, Visani, Elisa, Ciano, Claudia, Fumarola, Adriana, Arnoldi, Maria Teresa, Corlatti, Alice, Foscan, Maria, Marchi, Alessia, Erbetta, Alessandra, Riva, Daria

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