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Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry by Antonio Di Muzio, Corrado Angelini, Tiziana Mongini, Liliana Vercelli, Lucia Morandi, Giovanni Antonini, Gabriele Siciliano, Lucio Santoro, Maurizio Moggio, Giacomo Brisca, Luisa Villa, Giuliano Tomelleri, Francesco Sera, Carmelo Rodolico, Lorenzo Maggi, Giulia Ricci, Angela Berardinelli, Elena Pegoraro, Sabrina Ravaglia, Chiara Fiorillo, Michelangelo Cao, Rossella Tupler, Ana Nikolic, Elisabetta Bucci, Monica Govi, Fabiano Mele, Marta Rossi, Lucia Ruggiero, Maria Chiara D'Amico, Maria Grazia D'Angelo, Claudio Bruno
Published 2016-01-01Get full text
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Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016Research in context by Maria Carmela Pera, Giorgia Coratti, Marika Pane, Riccardo Masson, Valeria Ada Sansone, Adele D’Amico, Michela Catteruccia, Caterina Agosto, Antonio Varone, Claudio Bruno, Sonia Messina, Federica Ricci, Irene Bruno, Elena Procopio, Antonella Pini, Sabrina Siliquini, Riccardo Zanin, Emilio Albamonte, Angela Berardinelli, Chiara Mastella, Giovanni Baranello, Stefano Carlo Previtali, Antonio Trabacca, Chiara Bravetti, Delio Gagliardi, Massimiliano Filosto, Roberto de Sanctis, Richard Finkel, Eugenio Mercuri, Alice Gardani, Maria Antonella Costantino, Ilaria Bitetti, Matteo Tuana Franguel, Maria Sframeli, Andrea Magnolato, Myriam Rausa, Elena Pagliaccia, Mirea Negri, Cesare Del Monaco, Beatrice Berti, Daniela Leone, Concetta Palermo, Enrico Bertini, Antonella Longo, Claudia Dosi, Sara Carnicella, Simone Morando, Noemi Brolatti, Alessandra Vento, Ilaria Cavallina, Roberta Ferrante, Laura Bernasconi, Marco Piastra, Orazio Genovese, Nicola Forcina, Francesca Benedetti, Simona Damioli, Lavinia Fanelli, Giulia Stanca, Giulia Norcia, Matteo Sacchini, Chiara Ticci, Elena Briganti
Published 2024-12-01Get full text
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