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Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release.
Früh S, Boudkkazi S, Koppensteiner P, Sereikaite V, Chen LY, Fernandez-Fernandez D, Rem PD, Ulrich D, Schwenk J, Chen Z, Le Monnier E, Fritzius T, Innocenti SM, Besseyrias V, Trovò L, Stawarski M, Argilli E, Sherr EH, van Bon B, Kamsteeg EJ, Iascone M, Pilotta A, Cutrì MR, Azamian MS, Hernández-García A, Lalani SR, Rosenfeld JA, Zhao X, Vogel TP, Ona H, Scott DA, Scheiffele P, Strømgaard K, Tafti M, Gassmann M, Fakler B, Shigemoto R, Bettler B. Früh S, et al. Among authors: fernandez fernandez d. Sci Adv. 2024 Jul 12;10(28):eadk5462. doi: 10.1126/sciadv.adk5462. Epub 2024 Jul 10. Sci Adv. 2024. PMID: 38985877 Free PMC article.
Soluble amyloid-β precursor peptide does not regulate GABAB receptor activity.
Rem PD, Sereikaite V, Fernández-Fernández D, Reinartz S, Ulrich D, Fritzius T, Trovo L, Roux S, Chen Z, Rondard P, Pin JP, Schwenk J, Fakler B, Gassmann M, Barkat TR, Strømgaard K, Bettler B. Rem PD, et al. Among authors: fernandez fernandez d. Elife. 2023 Jan 23;12:e82082. doi: 10.7554/eLife.82082. Elife. 2023. PMID: 36688536 Free PMC article.
Multicentric reticulohistiocytosis: A 20-year diagnosis beneath the surface.
Fernández-Fernández D, Mamani-Velarde IL, Segarra-Ortega MT, Pego-Reigosa JM. Fernández-Fernández D, et al. Reumatol Clin (Engl Ed). 2024 Oct;20(8):456-457. doi: 10.1016/j.reumae.2024.09.008. Reumatol Clin (Engl Ed). 2024. PMID: 39396356 Free article. No abstract available.
35 results