NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

Por Mavillard, Fabiola, Madruga‐Garrido, Marcos, Rivas, Eloy, Servián‐Morilla, Emilia, Ávila‐Polo, Rainiero, Marcos, Irene, Morón, Francisco J., Paradas, Carmen, Cabrera‐Serrano, Macarena
Publicado no Ann Clin Transl Neurol (2019)

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner

Por Ohkawara, Bisei, Cabrera-Serrano, Macarena, Nakata, Tomohiko, Milone, Margherita, Asai, Nobuyuki, Ito, Kenyu, Ito, Mikako, Masuda, Akio, Ito, Yasutomo, Engel, Andrew G., Ohno, Kinji
Publicado em 2014

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

Por Cabrera-Serrano, Macarena, Mavillard, Fabiola, Biancalana, Valerie, Rivas, Eloy, Morar, Bharti, Hernández-Laín, Aurelio, Olive, Montse, Muelas, Nuria, Khan, Eduardo, Carvajal, Alejandra, Quiroga, Pablo, Diaz-Manera, Jordi, Davis, Mark, Ávila, Rainiero, Domínguez, Cristina, Romero, Norma Beatriz, Vílchez, Juan J., Comas, David, Laing, Nigel G., Laporte, Jocelyn, Kalaydjieva, Luba, Paradas, Carmen
Publicado no Neurology (2018)

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

Por Beecroft, Sarah J., Yau, Kyle S., Allcock, Richard J. N., Mina, Kym, Gooding, Rebecca, Faiz, Fathimath, Atkinson, Vanessa J., Wise, Cheryl, Sivadorai, Padma, Trajanoski, Daniel, Kresoje, Nina, Ong, Royston, Duff, Rachael M., Cabrera‐Serrano, Macarena, Nowak, Kristen J., Pachter, Nicholas, Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Laing, Nigel G.
Publicado no Ann Clin Transl Neurol (2020)

A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss

Por Servián‐Morilla, Emilia, Takeuchi, Hideyuki, Lee, Tom V, Clarimon, Jordi, Mavillard, Fabiola, Area‐Gómez, Estela, Rivas, Eloy, Nieto‐González, Jose L, Rivero, Maria C, Cabrera‐Serrano, Macarena, Gómez‐Sánchez, Leonardo, Martínez‐López, Jose A, Estrada, Beatriz, Márquez, Celedonio, Morgado, Yolanda, Suárez‐Calvet, Xavier, Pita, Guillermo, Bigot, Anne, Gallardo, Eduard, Fernández‐Chacón, Rafael, Hirano, Michio, Haltiwanger, Robert S, Jafar‐Nejad, Hamed, Paradas, Carmen
Publicado no EMBO Mol Med (2016)

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

Por Olivé, Montse, Engvall, Martin, Ravenscroft, Gianina, Cabrera-Serrano, Macarena, Jiao, Hong, Bortolotti, Carlo Augusto, Pignataro, Marcello, Lambrughi, Matteo, Jiang, Haibo, Forrest, Alistair R. R., Benseny-Cases, Núria, Hofbauer, Stefan, Obinger, Christian, Battistuzzi, Gianantonio, Bellei, Marzia, Borsari, Marco, Di Rocco, Giulia, Viola, Helena M., Hool, Livia C., Cladera, Josep, Lagerstedt-Robinson, Kristina, Xiang, Fengqing, Wredenberg, Anna, Miralles, Francesc, Baiges, Juan José, Malfatti, Edoardo, Romero, Norma B., Streichenberger, Nathalie, Vial, Christophe, Claeys, Kristl G., Straathof, Chiara S. M., Goris, An, Freyer, Christoph, Lammens, Martin, Bassez, Guillaume, Kere, Juha, Clemente, Paula, Sejersen, Thomas, Udd, Bjarne, Vidal, Noemí, Ferrer, Isidre, Edström, Lars, Wedell, Anna, Laing, Nigel G.
Publicado no Nat Commun (2019)