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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: finck t. 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.
Hemorrhagic lesion with detection of infected endothelial cells in human bornavirus encephalitis.
Liesche-Starnecker F, Schifferer M, Schlegel J, Vollmuth Y, Rubbenstroth D, Delbridge C, Gempt J, Lorenzl S, Schnurbus L, Misgeld T, Rosati M, Beer M, Matiasek K, Wunderlich S, Finck T. Liesche-Starnecker F, et al. Among authors: finck t. Acta Neuropathol. 2022 Aug;144(2):377-379. doi: 10.1007/s00401-022-02442-3. Epub 2022 Jun 3. Acta Neuropathol. 2022. PMID: 35657496 Free PMC article. No abstract available.
24 results