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Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Thalwitzer KM, Driedger JH, Xian J, Saffari A, Zacher P, Bölsterli BK, Ruggiero SM, Sullivan KR, Datta AN, Kellinghaus C, Althaus J, Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman HMH, Debus OM, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H, Gburek-Augustat J, Preisel M, Schlump JU, Laufs M, Mammadova D, Wurst C, Prager C, Löhr-Nilles C, Martin P, Garbade SF, Platzer K, Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke JR, Runkel E, Klein B, Linden T, Schröter J, Steffeck H, Thies B, von Deimling F, Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G, Koelker S, Hoffmann GF, Ries M, Helbig I, Syrbe S. Thalwitzer KM, et al. Among authors: althaus j. Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5. Neurology. 2023. PMID: 37407264
From mice to men.
Althaus JC, Sutton MA. Althaus JC, et al. Elife. 2021 Apr 1;10:e67895. doi: 10.7554/eLife.67895. Elife. 2021. PMID: 33792538 Free PMC article.
RAI1 Regulates Activity-Dependent Nascent Transcription and Synaptic Scaling.
Garay PM, Chen A, Tsukahara T, Rodríguez Díaz JC, Kohen R, Althaus JC, Wallner MA, Giger RJ, Jones KS, Sutton MA, Iwase S. Garay PM, et al. Among authors: althaus jc. Cell Rep. 2020 Aug 11;32(6):108002. doi: 10.1016/j.celrep.2020.108002. Cell Rep. 2020. PMID: 32783930 Free PMC article.
132 results