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A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease.
Hartl D, May P, Gu W, Mayhaus M, Pichler S, Spaniol C, Glaab E, Bobbili DR, Antony P, Koegelsberger S, Kurz A, Grimmer T, Morgan K, Vardarajan BN, Reitz C, Hardy J, Bras J, Guerreiro R, Balling R, Schneider JG, Riemenschneider M; AESG. Hartl D, et al. Mol Psychiatry. 2020 Mar;25(3):629-639. doi: 10.1038/s41380-018-0091-8. Epub 2018 Jul 9. Mol Psychiatry. 2020. PMID: 29988083 Free PMC article.
Rare ABCA7 variants in 2 German families with Alzheimer disease.
May P, Pichler S, Hartl D, Bobbili DR, Mayhaus M, Spaniol C, Kurz A, Balling R, Schneider JG, Riemenschneider M. May P, et al. Among authors: hartl d. Neurol Genet. 2018 Mar 21;4(2):e224. doi: 10.1212/NXG.0000000000000224. eCollection 2018 Apr. Neurol Genet. 2018. PMID: 29577078 Free PMC article.
Kainate promotes alterations in neuronal RNA splicing machinery.
Rohe M, Nebrich G, Klein O, Mao L, Zabel C, Klose J, Hartl D. Rohe M, et al. Among authors: hartl d. J Proteome Res. 2011 Apr 1;10(4):1459-67. doi: 10.1021/pr101008p. Epub 2011 Feb 24. J Proteome Res. 2011. PMID: 21265575
855 results