Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

by Juan-Mateu, Jonàs, González-Quereda, Lidia, Rodríguez, Maria José, Verdura, Edgard, Lázaro, Kira, Jou, Cristina, Nascimento, Andrés, Jiménez-Mallebrera, Cecilia, Colomer, Jaume, Monges, Soledad, Lubieniecki, Fabiana, Foncuberta, Maria Eugenia, Pascual-Pascual, Samuel Ignacio, Molano, Jesús, Baiget, Montserrat, Gallano, Pia
Published 2013

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

by Malfatti, Edoardo, Lehtokari, Vilma-Lotta, Böhm, Johann, De Winter, Josine M, Schäffer, Ursula, Estournet, Brigitte, Quijano-Roy, Susana, Monges, Soledad, Lubieniecki, Fabiana, Bellance, Remi, Viou, Mai Thao, Madelaine, Angéline, Wu, Bin, Taratuto, Ana Lía, Eymard, Bruno, Pelin, Katarina, Fardeau, Michel, Ottenheijm, Coen AC, Wallgren-Pettersson, Carina, Laporte, Jocelyn, Romero, Norma B
Published 2014

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

by Bladen, Catherine L, Salgado, David, Monges, Soledad, Foncuberta, Maria E, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna J, Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lahdetie, Jaana, Walter, Maggie C, Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Kimura, En, Koeks, Zaïda, van den Bergen, Janneke C, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Janusz, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Jeannet, Pierre-Yves, Joncourt, Franziska, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A Ayşe, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V, Martin, Ann S, Peay, Holly L, Bellgard, Matthew I, Kirschner, Jan, Flanigan, Kevin M, Straub, Volker, Bushby, Kate, Verschuuren, Jan, Aartsma-Rus, Annemieke, Béroud, Christophe, Lochmüller, Hanns
Published 2015