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Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy by Sara Missaglia, Sara Missaglia, Eleonora Martegani, Eleonora Martegani, Corrado Angelini, Rita Horvath, Veronika Karcagi, Endre Pal, Endre Pal, Daniela Tavian, Daniela Tavian
Published 2025-08-01Get full text
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Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. by Annalaura Torella, Marina Fanin, Margherita Mutarelli, Enrico Peterle, Francesca Del Vecchio Blanco, Rossella Rispoli, Marco Savarese, Arcomaria Garofalo, Giulio Piluso, Lucia Morandi, Giulia Ricci, Gabriele Siciliano, Corrado Angelini, Vincenzo Nigro
Published 2013-01-01Get full text
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Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy. by Andrea Barp, Luca Bello, Luisa Politano, Paola Melacini, Chiara Calore, Angela Polo, Sara Vianello, Gianni Sorarù, Claudio Semplicini, Boris Pantic, Antonella Taglia, Ester Picillo, Francesca Magri, Ksenija Gorni, Sonia Messina, Gian Luca Vita, Giuseppe Vita, Giacomo P Comi, Mario Ermani, Vincenzo Calvo, Corrado Angelini, Eric P Hoffman, Elena Pegoraro
Published 2015-01-01Get full text
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