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Identification of homologous GluN subunits variants accelerates GRIN variants stratification.
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.
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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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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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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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.
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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.
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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: santos gomez a.
Brain. 2024 May 3;147(5):1653-1666. doi: 10.1093/brain/awae041.
Brain. 2024.
PMID: 38380699
Clinical Trial.
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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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