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RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschütter A, Krätzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Rüschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nürnberg P, Gärtner J. Henneke M, et al. Among authors: kratzner r. Nat Genet. 2009 Jul;41(7):773-5. doi: 10.1038/ng.398. Epub 2009 Jun 14. Nat Genet. 2009. PMID: 19525954
Structure and activity of the only human RNase T2.
Thorn A, Steinfeld R, Ziegenbein M, Grapp M, Hsiao HH, Urlaub H, Sheldrick GM, Gärtner J, Krätzner R. Thorn A, et al. Among authors: kratzner r. Nucleic Acids Res. 2012 Sep 1;40(17):8733-42. doi: 10.1093/nar/gks614. Epub 2012 Jun 26. Nucleic Acids Res. 2012. PMID: 22735700 Free PMC article.
Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration.
Luebben AV, Bender D, Becker S, Crowther LM, Erven I, Hofmann K, Söding J, Klemp H, Bellotti C, Stäuble A, Qiu T, Kathayat RS, Dickinson BC, Gärtner J, Sheldrick GM, Krätzner R, Steinfeld R. Luebben AV, et al. Among authors: kratzner r. Sci Adv. 2022 Apr 15;8(15):eabj8633. doi: 10.1126/sciadv.abj8633. Epub 2022 Apr 15. Sci Adv. 2022. PMID: 35427157 Free PMC article.
A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.
Dreha-Kulaczewski S, Kalscheuer V, Tzschach A, Hu H, Helms G, Brockmann K, Weddige A, Dechent P, Schlüter G, Krätzner R, Ropers HH, Gärtner J, Zirn B. Dreha-Kulaczewski S, et al. Among authors: kratzner r. JIMD Rep. 2014;13:91-9. doi: 10.1007/8904_2013_261. Epub 2013 Nov 5. JIMD Rep. 2014. PMID: 24190795 Free PMC article.
26 results