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 2019

Variably protease‐sensitive prionopathy presenting within ALS/FTD spectrum

por Vicente‐Pascual, Mikel, Rossi, Marcello, Gámez, Josep, Lladó, Albert, Valls, Josep, Grau‐Rivera, Oriol, Ávila Polo, Rainiero, Llorens, Franc, Zerr, Inga, Ferrer, Isidre, Nos, Carlos, Parchi, Piero, Sánchez‐Valle, Raquel, Gelpí, Ellen
Publicado 2018