Showing 1 - 10 results of 10 for search 'Ángels García-Cazorla', query time: 0.04s
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MULTI-OMICS CHARACTERIZATION OF NEURODEVELOPMENTAL DISORDERS by Katia Sofia Illescas, Guerau Fernández Isern, Alfonso Oyarzábal, Àngels García-Cazorla
Published 2023-10-01
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COMPREHENSIVE DELINEATION AND PRECISION MEDICINE OF GRIN-RELATED NEURODEVELOPMENTAL DISORDERS, A PRIMARY DISTURBANCE OF THE NMDA RECEPTOR by Mireia Olivella, Ana Santos-Gómez, Natalia Juliá-Palacios, Sílvia Locubiche Serra, David Soto, Àngels García-Cazorla, Xavier Altafaj
Published 2023-10-01
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Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism. by Dèlia Yubero, Núria Brandi, Aida Ormazabal, Àngels Garcia-Cazorla, Belén Pérez-Dueñas, Jaime Campistol, Antonia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong, Working Group
Published 2016-01-01
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Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy by Alba-Aina Castells, Rafel Balada, Alba Tristán-Noguero, Mar O’Callaghan, Elisenda Cortès-Saladelafont, Ainhoa Pascual-Alonso, Àngels Garcia-Cazorla, Judith Armstrong, Soledad Alcántara
Published 2021-02-01
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Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome by Uliana Musokhranova, Cristina Grau, Cristina Vergara, Laura Rodríguez-Pascau, Clara Xiol, Alba A. Castells, Soledad Alcántara, Pilar Rodríguez-Pombo, Pilar Pizcueta, Marc Martinell, Angels García-Cazorla, Alfonso Oyarzábal
Published 2023-10-01
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iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation by Alba Tristán‐Noguero, Irene Fernández‐Carasa, Carles Calatayud, Cristina Bermejo‐Casadesús, Meritxell Pons‐Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo‐Jiménez, Salvador Ibáñez, Mercè Pineda, Rafael Artuch, Ángel Raya, Àngels García‐Cazorla, Antonella Consiglio
Published 2023-02-01
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Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity by Laura Planas-Serra, Nathalie Launay, Leire Goicoechea, Bénédicte Heron, Cristina Jou, Natalia Juliá-Palacios, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Carolina De La Torre, Antoinette Gelot, Maria Marsal, Pablo Loza-Alvarez, Àngels García-Cazorla, Ali Fatemi, Isidre Ferrer, Manel Portero-Otin, Estela Area-Gómez, Aurora Pujol
Published 2023-05-01
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Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder by Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, Henry H. C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K. Michael Gibson, Mustafa Sahin, Phillip L. Pearl
Published 2024-04-01
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