Validation of nasospheroids to assay CFTR functionality and modulator responses in cystic fibrosis

por Maite Calucho, Silvia Gartner, Paula Barranco, Paula Fernández-Álvarez, Raquel García Pérez, Eduardo F. Tizzano
Publicado 2021

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

por María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez
Publicado 2019