Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders

por Xiol, Clara, Heredia, Maria, Pascual-Alonso, Ainhoa, Oyarzabal, Alfonso, Armstrong, Judith
Publicado 2021

Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria

por Richard, Eva, Gallego-Villar, Lorena, Rivera-Barahona, Ana, Oyarzábal, Alfonso, Pérez, Belén, Rodríguez-Pombo, Pilar, Desviat, Lourdes R.
Publicado 2018

Thiamine transporter-2 deficiency: outcome and treatment monitoring

por Ortigoza-Escobar, Juan Darío, Serrano, Mercedes, Molero, Marta, Oyarzabal, Alfonso, Rebollo, Mónica, Muchart, Jordi, Artuch, Rafael, Rodríguez-Pombo, Pilar, Pérez-Dueñas, Belén
Publicado 2014

Comprehensive Analysis of GABA(A)-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

por Oyarzabal, Alfonso, Xiol, Clara, Castells, Alba Aina, Grau, Cristina, O’Callaghan, Mar, Fernández, Guerau, Alcántara, Soledad, Pineda, Mercè, Armstrong, Judith, Altafaj, Xavier, García-Cazorla, Angels
Publicado 2020

Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome

por Musokhranova, Uliana, Grau, Cristina, Vergara, Cristina, Rodríguez-Pascau, Laura, Xiol, Clara, Castells, Alba A., Alcántara, Soledad, Rodríguez-Pombo, Pilar, Pizcueta, Pilar, Martinell, Marc, García-Cazorla, Angels, Oyarzábal, Alfonso
Publicado 2023

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

por Justel, Maria, Jou, Cristina, Sariego-Jamardo, Andrea, Juliá-Palacios, Natalia Alexandra, Ortez, Carlos, Poch, Maria Luisa, Hedrera-Fernandez, Antonio, Gomez-Martin, Hilario, Codina, Anna, Dominguez-Carral, Jana, Muxart, Jordi, Hernández-Laín, Aurelio, Vila-Bedmar, Sara, Zulaica, Miren, Cancho-Candela, Ramon, Castro, Margarita del Carmen, de la Osa-Langreo, Alberto, Peña-Valenceja, Alfonso, Marcos-Vadillo, Elena, Prieto-Matos, Pablo, Pascual-Pascual, Samuel Ignacio, López de Munain, Adolfo, Camacho, Ana, Estevez-Arias, Berta, Musokhranova, Uliana, Olivella, Mireia, Oyarzábal, Alfonso, Jimenez-Mallebrera, Cecilia, Domínguez-González, Cristina, Nascimento, Andrés, García-Cazorla, Àngels, Natera-de Benito, Daniel
Publicado 2023