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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. Among authors: schneider jg. 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: schneider jg. Neurol Genet. 2018 Mar 21;4(2):e224. doi: 10.1212/NXG.0000000000000224. eCollection 2018 Apr. Neurol Genet. 2018. PMID: 29577078 Free PMC article.
Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma.
Elbelt U, Trovato A, Kloth M, Gentz E, Finke R, Spranger J, Galas D, Weber S, Wolf C, König K, Arlt W, Büttner R, May P, Allolio B, Schneider JG. Elbelt U, et al. Among authors: schneider jg. J Clin Endocrinol Metab. 2015 Jan;100(1):E119-28. doi: 10.1210/jc.2014-2648. J Clin Endocrinol Metab. 2015. PMID: 25279498 Free PMC article.
Itaconic acid indicates cellular but not systemic immune system activation.
Meiser J, Kraemer L, Jaeger C, Madry H, Link A, Lepper PM, Hiller K, Schneider JG. Meiser J, et al. Among authors: schneider jg. Oncotarget. 2018 Aug 14;9(63):32098-32107. doi: 10.18632/oncotarget.25956. eCollection 2018 Aug 14. Oncotarget. 2018. PMID: 30181801 Free PMC article.
Loss of DJ-1 impairs antioxidant response by altered glutamine and serine metabolism.
Meiser J, Delcambre S, Wegner A, Jäger C, Ghelfi J, d'Herouel AF, Dong X, Weindl D, Stautner C, Nonnenmacher Y, Michelucci A, Popp O, Giesert F, Schildknecht S, Krämer L, Schneider JG, Woitalla D, Wurst W, Skupin A, Weisenhorn DM, Krüger R, Leist M, Hiller K. Meiser J, et al. Among authors: schneider jg. Neurobiol Dis. 2016 May;89:112-25. doi: 10.1016/j.nbd.2016.01.019. Epub 2016 Feb 1. Neurobiol Dis. 2016. PMID: 26836693 Free article.
117 results