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Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sørensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Brugger M, et al. Among authors: zott b. Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28. Am J Hum Genet. 2024. PMID: 38423010 Free PMC article.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Brunet T, Zott B, Lieftüchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Hüning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor RW, McFarland R, Devlin A, Mihaljević M, Barišić N, Rohlfs M, Wilfling S, Sondheimer N, Hewson S, Marinakis NM, Kosma K, Traeger-Synodinos J, Elbracht M, Begemann M, Trepels-Kottek S, Hasan D, Scala M, Capra V, Zara F, van der Ven AT, Driemeyer J, Apitz C, Krämer J, Strong A, Hakonarson H, Watson D, Mayr JA, Prokisch H, Meitinger T, Borggraefe I, Spiegler J, Baric I, Paolini M, Gerstl L, Wagner M. Brunet T, et al. Among authors: zott b. Genet Med. 2024 Feb;26(2):101013. doi: 10.1016/j.gim.2023.101013. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924258
Impaired macroscopic CSF flow by sevoflurane in humans - both during and after anesthesia.
Zimmermann J, Sorg C, Müller L, Zistler F, Neumaier V, Bonhoeffer M, Ranft A, Golkowski D, Priller J, Zimmer C, Ilg R, Preibisch C, Schneider G, Nuttall R, Zott B. Zimmermann J, et al. Among authors: zott b. Anesthesiology. 2025 Jan 8. doi: 10.1097/ALN.0000000000005360. Online ahead of print. Anesthesiology. 2025. PMID: 39786916
Chronic PPARγ Stimulation Shifts Amyloidosis to Higher Fibrillarity but Improves Cognition.
Blume T, Deussing M, Biechele G, Peters F, Zott B, Schmidt C, Franzmeier N, Wind K, Eckenweber F, Sacher C, Shi Y, Ochs K, Kleinberger G, Xiang X, Focke C, Lindner S, Gildehaus FJ, Beyer L, von Ungern-Sternberg B, Bartenstein P, Baumann K, Adelsberger H, Rominger A, Cumming P, Willem M, Dorostkar MM, Herms J, Brendel M. Blume T, et al. Among authors: zott b. Front Aging Neurosci. 2022 Mar 30;14:854031. doi: 10.3389/fnagi.2022.854031. eCollection 2022. Front Aging Neurosci. 2022. PMID: 35431893 Free PMC article.
Resting-state BOLD functional connectivity depends on the heterogeneity of capillary transit times in the human brain A combined lesion and simulation study about the influence of blood flow response timing.
Schneider SC, Archila-Meléndez ME, Göttler J, Kaczmarz S, Zott B, Priller J, Kallmayer M, Zimmer C, Sorg C, Preibisch C. Schneider SC, et al. Among authors: zott b. Neuroimage. 2022 Jul 15;255:119208. doi: 10.1016/j.neuroimage.2022.119208. Epub 2022 Apr 12. Neuroimage. 2022. PMID: 35427773 Free article.
Pre-therapeutic microglia activation and sex determine therapy effects of chronic immunomodulation.
Biechele G, Blume T, Deussing M, Zott B, Shi Y, Xiang X, Franzmeier N, Kleinberger G, Peters F, Ochs K, Focke C, Sacher C, Wind K, Schmidt C, Lindner S, Gildehaus FJ, Eckenweber F, Beyer L, von Ungern-Sternberg B, Bartenstein P, Baumann K, Dorostkar MM, Rominger A, Cumming P, Willem M, Adelsberger H, Herms J, Brendel M. Biechele G, et al. Among authors: zott b. Theranostics. 2021 Aug 19;11(18):8964-8976. doi: 10.7150/thno.64022. eCollection 2021. Theranostics. 2021. PMID: 34522221 Free PMC article.
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