The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy by Neri Marcella, Valli Emanuele, Alfano Giovanna, Bovolenta Matteo, Spitali Pietro, Rapezzi Claudio, Muntoni Francesco, Banfi Sandro, Perini Giovanni, Gualandi Francesca, Ferlini Alessandra

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Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) by Eichinger Kate, Ramchandren Sindhu, Pagliano Emanuela, Moroni Isabella, Pareyson Davide, Reilly Mary, Muntoni Francesco, Acsadi Gyula, Glanzman Allan, Patzko Agnes, Swingle Polly, Laura Matilde, Hiscock Andy, Estilow Tim, Finkel Richard, Burns Joshua, Ryan Monique, Ouvrier Robert, Shy Michael, Shy Rosemary

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies by Falzarano Maria S, Brioschi Simona, Spitali Pietro, Bassi Elena, Martoni Elena, Venturoli Anna, Trabanelli Cecilia, Fabris Marina, Fini Sergio, Neri Marcella, Bovolenta Matteo, Rimessi Paola, Ciccone Roberto, Ashton Emma, McCauley Joanne, Yau Shu, Abbs Stephen, Muntoni Francesco, Merlini Luciano, Gualandi Francesca, Ferlini Alessandra

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Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders by Mamchaoui Kamel, Trollet Capucine, Bigot Anne, Negroni Elisa, Chaouch Soraya, Wolff Annie, Kandalla Prashanth K, Marie Solenne, Di Santo James, St Guily Jean, Muntoni Francesco, Kim Jihee, Philippi Susanne, Spuler Simone, Levy Nicolas, Blumen Sergiu C, Voit Thomas, Wright Woodring E, Aamiri Ahmed, Butler-Browne Gillian, Mouly Vincent

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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing by Cummings, Beryl, Marshall, Jamie L., Tukiainen, Taru, Lek, Monkol, Donkervoort, Sandra, Foley, A. Reghan, Bolduc, Veronique, Waddell, Leigh B., Sandaradura, Sarah A., O’Grady, Gina L., Estrella, Elicia, Reddy, Hemakumar M., Zhao, Fengmei, Weisburd, Ben, Karczewski, Konrad, O’Donnell-Luria, Anne H., Birnbaum, Daniel, Sarkozy, Anna, Hu, Ying, Gonorazky, Hernan, Claeys, Kristl, Joshi, Himanshu, Bournazos, Adam, Oates, Emily C., Ghaoui, Roula, Davis, Mark R., Laing, Nigel G., Topf, Ana, Kang, Peter B., Beggs, Alan H., North, Kathryn N., Straub, Volker, Dowling, James J., Muntoni, Francesco, Clarke, Nigel F., Cooper, Sandra T., Bönnemann, Carsten G., MacArthur, Daniel G.

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