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L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Brain. 2024 May 3;147(5):1653-1666. doi: 10.1093/brain/awae041.
Brain. 2024.
PMID: 38380699
Clinical Trial.
Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder.
den Hollander B, Veenvliet ARJ, Rothuizen-Lindenschot M, van Essen P, Peters G, Santos-Gómez A, Olivella M, Altafaj X, Brands MM, Jacobs BAW, van Karnebeek CD.
den Hollander B, et al. Among authors: santos gomez a.
Mol Genet Metab. 2023 Mar;138(3):107523. doi: 10.1016/j.ymgme.2023.107523. Epub 2023 Jan 21.
Mol Genet Metab. 2023.
PMID: 36758276
Free article.
Item in Clipboard
Identification of homologous GluN subunits variants accelerates GRIN variants stratification.
Santos-Gómez A, García-Recio A, Miguez-Cabello F, Soto D, Altafaj X, Olivella M.
Santos-Gómez A, et al.
Front Cell Neurosci. 2022 Dec 23;16:998719. doi: 10.3389/fncel.2022.998719. eCollection 2022.
Front Cell Neurosci. 2022.
PMID: 36619673
Free PMC article.
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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.
Int J Mol Sci. 2021 Nov 23;22(23):12656. doi: 10.3390/ijms222312656.
Int J Mol Sci. 2021.
PMID: 34884460
Free PMC article.
Item in Clipboard
GRIN database: A unified and manually curated repertoire of GRIN variants.
García-Recio A, Santos-Gómez A, Soto D, Julia-Palacios N, García-Cazorla À, Altafaj X, Olivella M.
García-Recio A, et al. Among authors: santos gomez a.
Hum Mutat. 2021 Jan;42(1):8-18. doi: 10.1002/humu.24141. Epub 2020 Nov 30.
Hum Mutat. 2021.
PMID: 33252190
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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.
Hum Mol Genet. 2021 Feb 25;29(24):3859-3871. doi: 10.1093/hmg/ddaa220.
Hum Mol Genet. 2021.
PMID: 33043365
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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: santos gomez a.
Sci Signal. 2019 Jun 18;12(586):eaaw0936. doi: 10.1126/scisignal.aaw0936.
Sci Signal. 2019.
PMID: 31213567
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[Breakfasting with experts: quality and innovation].
Fernández-Martín J, González-Lombide E, Santos-Gómez A, Saratxaga AR.
Fernández-Martín J, et al. Among authors: santos gomez a.
Rev Calid Asist. 2009 Aug;24(4):171-6. doi: 10.1016/S1134-282X(09)71801-9.
Rev Calid Asist. 2009.
PMID: 19647679
Spanish.
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