Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

Por 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
Publicado em 2013

PLA2G6 MUTATIONS ASSOCIATED WITH A CONTINUOUS CLINICAL SPECTRUM FROM NEUROAXONAL DYSTROPHY TO HEREDITARY SPASTIC PARAPLEGIA

Por Ozes, Burcak, Karagoz, Nazan, Schüle, Rebecca, Rebelo, Adriana, Sobrido, María-Jesús, Harmuth, Florian, Synofzik, Matthis, Pascual, Samuel Ignacio Pascual, Colak, Melek, Ciftci-Kavaklioglu, Beyza, Kara, Batuhan, Ordóñez-Ugalde, Andrés, Quintáns, Beatriz, Gonzalez, Michael A., Soysal, Aysun, Zuchner, Stephan, Battaloglu, Esra
Publicado no Clin Genet (2017)

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Por Sivera, Rafael, Frasquet, Marina, Lupo, Vincenzo, García-Sobrino, Tania, Blanco-Arias, Patricia, Pardo, Julio, Fernández-Torrón, Roberto, de Munain, Adolfo López, Márquez-Infante, Celedonio, Villarreal, Liliana, Carbonell, Pilar, Rojas-García, Ricard, Segovia, Sonia, Illa, Isabel, Frongia, Anna Lia, Nascimento, Andrés, Ortez, Carlos, García-Romero, María del Mar, Pascual, Samuel Ignacio, Pelayo-Negro, Ana Lara, Berciano, José, Guerrero, Antonio, Casasnovas, Carlos, Camacho, Ana, Esteban, Jesús, Chumillas, María José, Barreiro, Marisa, Díaz, Carmen, Palau, Francesc, Vílchez, Juan Jesús, Espinós, Carmen, Sevilla, Teresa
Publicado no Sci Rep (2017)