Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability

door Ibarluzea, Nekane, de la Hoz, Ana Belén, Villate, Olatz, Llano, Isabel, Ocio, Intzane, Martí, Itxaso, Guitart, Miriam, Gabau, Elisabeth, Andrade, Fernando, Gener, Blanca, Tejada, María-Isabel
Gepubliceerd in Genes (Basel) (2020)

The Use of Lower or Higher Than Recommended Doses of Folic Acid Supplements during Pregnancy Is Associated with Child Attentional Dysfunction at 4–5 Years of Age in the INMA Projec...

door Compañ Gabucio, Laura María, García de la Hera, Manuela, Torres Collado, Laura, Fernández-Somoano, Ana, Tardón, Adonina, Guxens, Mònica, Vrijheid, Martine, Rebagliato, Marisa, Murcia, Mario, Ibarluzea, Jesús, Martí, Itxaso, Vioque, Jesús
Gepubliceerd in Nutrients (2021)

Herpes Simplex Virus Encephalitis is a Trigger of Brain Autoimmunity

door Armangue, Thaís, Leypoldt, Frank, Málaga, Ignacio, Raspall-Chaure, Miquel, Marti, Itxaso, Nichter, Charles, Pugh, John, Vicente-Rasoamalala, Monica, Lafuente-Hidalgo, Miguel, Macaya, Alfons, Ke, Michael, Titulaer, Maarten J, Höftberger, Romana, Sheriff, Heather, Glaser, Carol, Dalmau, Josep
Gepubliceerd in 2014

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

door Dominguez-Gonzalez, Cristina, Badosa, Carmen, Madruga-Garrido, Marcos, Martí, Itxaso, Paradas, Carmen, Ortez, Carlos, Diaz-Manera, Jordi, Berardo, Andres, Alonso-Pérez, Jorge, Trifunov, Selena, Cuadras, Daniel, Kalko, Susana G., Blázquez-Bermejo, Cora, Cámara, Yolanda, Martí, Ramon, Mavillard, Fabiola, Martin, Miguel A., Montoya, Julio, Ruiz-Pesini, Eduardo, Villarroya, Joan, Montero, Raquel, Villarroya, Francesc, Artuch, Rafael, Hirano, Michio, Nascimento, Andrés, Jimenez-Mallebrera, Cecilia
Gepubliceerd in Sci Rep (2020)

Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

door Domínguez-González, Cristina, Madruga-Garrido, Marcos, Mavillard, Fabiola, Garone, Caterina, Aguirre-Rodríguez, Francisco Javier, Donati, M. Alice, Kleinsteuber, Karin, Martí, Itxaso, Martín-Hernández, Elena, Morealejo-Aycinena, Juan P., Munell, Francina, Nascimento, Andrés, Kalko, Susana G., Sardina, M. Dolores, del Vayo, Concepcion Álvarez, Serrano, Olga, Long, Yuelin, Tu, Yuqi, Levin, Bruce, Thompson, John L. P., Engelstad, Kristen, Uddin, Jasim, Torres-Torronteras, Javier, Jimenez-Mallebrera, Cecilia, Martí, Ramon, Paradas, Carmen, Hirano, Michio
Gepubliceerd in Ann Neurol (2019)

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

door Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Eyck, Lien Van, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, de Villemeur, Thierry Billette, Bley, Annette E., Blumkin, Lubov, Boespflug-Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François-Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Hagelsrum, Gunilla Drake af, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie-Christine, Oppermann, Ilena, Pérez-Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Haren, Keith Van, Vila, Miguel Tomas, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J.
Gepubliceerd in Hum Mutat (2020)