Browsing by Author García Cazorla, Àngels
Showing results 4 to 11 of 11
< previous
| Issue Date | Title | Author(s) |
|---|---|---|
| 9-Feb-2023 | Deporte y función neuronal, moverse y pensar: Influencia de la actividad física en la atención, la memoria y el cálculo en alumnos de seis y siete años | Díaz Cobos, Gabriel |
| 10-Jan-2022 | Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization | Schlüter, Agatha; Rodríguez Palmero, Agustí; Verdura, Edgard; Vélez Santamaría, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas Serra, Laura; Martínez, Juan José; Guilera, Cristina; Girós, Marisa; Artuch Iriberri, Rafael; Yoldi, María Eugenia; O'Callaghan, Mar; García Cazorla, Àngels; Armstrong, Judith; Marti, Itxaso; Mondragón Rezola, Elisabet; Redin, Claire; Mandel, Jean Louis; Conejo, David; Sierra Córcoles, Concepción; Beltran, Sergi; Gut, Marta; Vázquez, Elida; Toro, Mireia del; Troncoso, Mónica; Pérez Jurado, Luis; Gutiérrez Solana, Luis G.; López de Munain, Adolfo; Casasnovas Pons, Carlos; Aguilera Albesa, Sergio; Macaya, Alfons; Pujol, Aurora; GWMD working group |
| 5-Oct-2020 | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome | García Cazorla, Àngels; Verdura, Edgard; Juliá Palacios, Natalia; Anderson, Eric N.; Goicoechea, Leire; Planas Serra, Laura; Tsogtbaatar, Enkhtuul; Dsouza, Nikita R.; Schlüter, Agatha; Urreizti, Roser; Tarnowski, Jessica M.; Gavrilova, Ralitza H.; SHMT Working Group; Ruiz, Montserrat; Rodríguez Palmero, Agustí; Fourcade, Stéphane; Cogné, Benjamin; Besnard, Thomas; Vincent, Marie; Bézieau, Stéphane; Folmes, Clifford D.; Zimmermann, Michael T.; Klee, Eric W.; Pandey, Udai Bhan; Artuch Iriberri, Rafael; Cousin, Margot A.; Pujol Onofre, Aurora |
| 6-Feb-2023 | IPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation | Tristá Noguero, Alba; Fernández Carasa, Irene; Calatayud, Carles; Bermejo Casadesús, Cristina; Pons Espinal, Meritxell; Colini Baldeschi, Arianna; Campa, Leticia; Artigas, Francesc; Bortolozzi, Analia; Domingo Jiménez, Rosario; Ibáñez, Salvador; Pineda, Mercè; Artuch Iriberri, Rafael; Raya, Ángel; García Cazorla, Àngels; Consiglio, Antonella |
| 23-Nov-2021 | Paradigmatic de novo GRIN1 variants recapitulate pathophysiological mechanisms underlying GRIN1-related disorder clinical spectrum | Santos Gómez, Ana; Miguez Cabello, Federico; Juliá Palacios, Natalia; García Navas, Deyanira; Soto Insuga, Víctor; García Peñas, Juan J.; Fuentes, Patricia; Ibáñez Micó, Salvador; Cuesta, Laura; Cancho, Ramón; Andreo Lillo, Patricia; Gutiérrez Aguilar, Gema; Alonso Luengo, Olga; Málaga, Ignacio; Hedrera Fernández, Antonio; García Cazorla, Àngels; Soto del Cerro, David; Olivella, Mireia; Altafaj, Xavier |
| 17-Sep-2020 | Sistemes de neurotransmissió en trastorns neuropediàtrics | Cortès i Saladelafont, Elisenda |
| 23-May-2023 | Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity | Planas Serra, Laura; Launay, Nathalie; Goicoechea, Leire; Heron, Bénédicte; Jou, Cristina; Juliá Palacios, Natalia; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; Torre, Carolina de la; Gelot, Antoinette; Marsal, Maria; Loza Álvarez, Pablo; García Cazorla, Àngels; Fatemi, Ali; Ferrer, Isidro (Ferrer Abizanda); Portero Otin, Manuel; Area Gómez, Estela; Pujol Onofre, Aurora |
| 22-Nov-2019 | Tyrosine Hydroxylase Deficiency: Studies in patient samples and in a cellular model | Tristán Noguero, Alba |