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L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Juliá-Palacios N, Olivella M, Sigatullina Bondarenko M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, Aguilera-Albesa S, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera I, Perez-Ordoñez M, Colomé R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal A, Alonso-Colmenero I, Illescas KS, Balsells-Mejía S, Mari-Vico R, Duffo Viñas M, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, Muro VL, Karall D, Zeiner F, Masnada S, Peterlongo I, Oyarzábal A, Santos-Gómez A, Altafaj X, García-Cazorla Á. Juliá-Palacios N, et al. Among authors: altafaj x. Brain. 2024 May 3;147(5):1653-1666. doi: 10.1093/brain/awae041. Brain. 2024. PMID: 38380699 Clinical Trial.
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.
Santos-Gómez A, Miguez-Cabello F, Juliá-Palacios N, García-Navas D, Soto-Insuga V, García-Peñas JJ, Fuentes P, Ibáñez-Micó S, Cuesta L, Cancho R, Andreo-Lillo P, Gutiérrez-Aguilar G, Alonso-Luengo O, Málaga I, Hedrera-Fernández A, García-Cazorla À, Soto D, Olivella M, Altafaj X. Santos-Gómez A, et al. Among authors: altafaj x. Int J Mol Sci. 2021 Nov 23;22(23):12656. doi: 10.3390/ijms222312656. Int J Mol Sci. 2021. PMID: 34884460 Free PMC article.
Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.
Santos-Gómez A, Miguez-Cabello F, García-Recio A, Locubiche-Serra S, García-Díaz R, Soto-Insuga V, Guerrero-López R, Juliá-Palacios N, Ciruela F, García-Cazorla À, Soto D, Olivella M, Altafaj X. Santos-Gómez A, et al. Among authors: altafaj x. Hum Mol Genet. 2021 Feb 25;29(24):3859-3871. doi: 10.1093/hmg/ddaa220. Hum Mol Genet. 2021. PMID: 33043365
L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy.
Soto D, Olivella M, Grau C, Armstrong J, Alcon C, Gasull X, Santos-Gómez A, Locubiche S, Gómez de Salazar M, García-Díaz R, Gratacòs-Batlle E, Ramos-Vicente D, Chu-Van E, Colsch B, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, García-Cazorla À, Altafaj X. Soto D, et al. Among authors: altafaj x. Sci Signal. 2019 Jun 18;12(586):eaaw0936. doi: 10.1126/scisignal.aaw0936. Sci Signal. 2019. PMID: 31213567
Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement.
Soto D, Olivella M, Grau C, Armstrong J, Alcon C, Gasull X, Gómez de Salazar M, Gratacòs-Batlle E, Ramos-Vicente D, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, García-Cazorla À, Altafaj X. Soto D, et al. Among authors: altafaj x. Biol Psychiatry. 2018 Jan 15;83(2):160-172. doi: 10.1016/j.biopsych.2017.05.028. Epub 2017 Jun 16. Biol Psychiatry. 2018. PMID: 28734458 Retracted.
Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.
Oyarzabal A, Xiol C, Castells AA, Grau C, O'Callaghan M, Fernández G, Alcántara S, Pineda M, Armstrong J, Altafaj X, García-Cazorla A. Oyarzabal A, et al. Among authors: altafaj x. Int J Mol Sci. 2020 Jan 14;21(2):518. doi: 10.3390/ijms21020518. Int J Mol Sci. 2020. PMID: 31947619 Free PMC article.
Gene therapy for Down syndrome.
Fillat C, Altafaj X. Fillat C, et al. Among authors: altafaj x. Prog Brain Res. 2012;197:237-47. doi: 10.1016/B978-0-444-54299-1.00012-1. Prog Brain Res. 2012. PMID: 22541296 Review.
44 results