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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 2
2004 2
2005 4
2006 2
2007 2
2008 1
2010 1
2011 1
2012 2
2013 1
2014 3
2016 1
2017 3
2018 3
2019 2
2020 3
2021 5
2022 2
2023 1
2024 1

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37 results

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Page 1
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.
Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Juliá-Palacios N, Ribeiro-Constante J, Altafaj X, Olivella M, O'Callaghan M, Darling A, Armstrong J, Artuch R, García-Cazorla À, Oyarzábal A. Illescas S, et al. Among authors: altafaj x. J Inherit Metab Dis. 2023 Nov 6. doi: 10.1002/jimd.12689. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37932875
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.
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, L Muro V, 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 Feb 21:awae041. doi: 10.1093/brain/awae041. Online ahead of print. Brain. 2024. PMID: 38380699
Decreased striatal adenosine A2A-dopamine D2 receptor heteromerization in schizophrenia.
Valle-León M, Callado LF, Aso E, Cajiao-Manrique MM, Sahlholm K, López-Cano M, Soler C, Altafaj X, Watanabe M, Ferré S, Fernández-Dueñas V, Menchón JM, Ciruela F. Valle-León M, et al. Among authors: altafaj x. Neuropsychopharmacology. 2021 Feb;46(3):665-672. doi: 10.1038/s41386-020-00872-9. Epub 2020 Oct 3. Neuropsychopharmacology. 2021. PMID: 33010795 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
37 results