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Page 1
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H. Roos A, et al. Among authors: sickmann a. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662 Free PMC article.
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
Hentschel A, Meyer N, Kohlschmidt N, Groß C, Sickmann A, Schara-Schmidt U, Förster F, Töpf A, Christiansen J, Horvath R, Vorgerd M, Thompson R, Polavarapu K, Lochmüller H, Preusse C, Hannappel L, Schänzer A, Grüneboom A, Gangfuß A, Roos A. Hentschel A, et al. Among authors: sickmann a. Mol Neurobiol. 2023 May;60(5):2602-2618. doi: 10.1007/s12035-023-03219-9. Epub 2023 Jan 24. Mol Neurobiol. 2023. PMID: 36692708 Free PMC article.
Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1.
Nguyen CDL, Jimenez-Moreno AC, Merker M, Bowers CJ, Nikolenko N, Hentschel A, Müntefering T, Isham A, Ruck T, Vorgerd M, Dobelmann V, Gourdon G, Schara-Schmidt U, Gangfuss A, Schröder C, Sickmann A, Gross C, Gorman G, Stenzel W, Kollipara L, Hathazi D, Spendiff S, Gagnon C, Preusse C, Duchesne E, Lochmüller H, Roos A. Nguyen CDL, et al. Among authors: sickmann a. J Neurol. 2023 Jun;270(6):3138-3158. doi: 10.1007/s00415-023-11633-1. Epub 2023 Mar 9. J Neurol. 2023. PMID: 36892629
Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
Hentschel A, Meyer N, Kohlschmidt N, Groß C, Sickmann A, Schara-Schmidt U, Förster F, Töpf A, Christiansen J, Horvath R, Vorgerd M, Thompson R, Polavarapu K, Lochmüller H, Preusse C, Hannappel L, Schänzer A, Grüneboom A, Gangfuß A, Roos A. Hentschel A, et al. Among authors: sickmann a. Mol Neurobiol. 2023 Jul;60(7):4164. doi: 10.1007/s12035-023-03319-6. Mol Neurobiol. 2023. PMID: 36941504 Free PMC article. No abstract available.
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.
Gangfuß A, Rating P, Ferreira T, Hentschel A, Marina AD, Kölbel H, Sickmann A, Abicht A, Kraft F, Ruck T, Böhm J, Schänzer A, Schara-Schmidt U, Neuhann TM, Horvath R, Roos A. Gangfuß A, et al. Among authors: sickmann a. J Neuromuscul Dis. 2024;11(2):485-491. doi: 10.3233/JND-230181. J Neuromuscul Dis. 2024. PMID: 38217609 Free PMC article.
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2.
Kleefeld F, Horvath R, Pinal-Fernandez I, Mammen AL, Casal-Dominguez M, Hathazi D, Melchert S, Hahn K, Sickmann A, Muselmann-Genschow C, Hentschel A, Preuße C, Roos A, Schoser B, Stenzel W. Kleefeld F, et al. Among authors: sickmann a. Acta Neuropathol. 2024 Jan 19;147(1):19. doi: 10.1007/s00401-023-02673-y. Acta Neuropathol. 2024. PMID: 38240888 Free PMC article.
Proteomic Characterization of 1000 Human and Murine Neutrophils Freshly Isolated From Blood and Sites of Sterile Inflammation.
Ghosh S, Tuz AA, Stenzel M, Singh V, Richter M, Soehnlein O, Lange E, Heyer R, Cibir Z, Beer A, Jung M, Nagel D, Hermann DM, Hasenberg A, Grüneboom A, Sickmann A, Gunzer M. Ghosh S, et al. Among authors: sickmann a. Mol Cell Proteomics. 2024 Nov;23(11):100858. doi: 10.1016/j.mcpro.2024.100858. Epub 2024 Oct 11. Mol Cell Proteomics. 2024. PMID: 39395581 Free PMC article.
Stroke and myocardial infarction induce neutrophil extracellular trap release disrupting lymphoid organ structure and immunoglobulin secretion.
Tuz AA, Ghosh S, Karsch L, Ttoouli D, Sata SP, Ulusoy Ö, Kraus A, Hoerenbaum N, Wolf JN, Lohmann S, Zwirnlein F, Kaygusuz V, Lakovic V, Tummes HL, Beer A, Gallert M, Thiebes S, Qefalia A, Cibir Z, Antler M, Korste S, Haj Yehia E, Michel L, Rassaf T, Kaltwasser B, Abdelrahman H, Mohamud Yusuf A, Wang C, Yin D, Haeusler L, Lueong S, Richter M, Engel DR, Stenzel M, Soehnlein O, Frank B, Solo-Nomenjanahary M, Ho-Tin-Noé B, Siveke JT, Totzeck M, Hoffmann D, Grüneboom A, Hagemann N, Hasenberg A, Desilles JP, Mazighi M, Sickmann A, Chen J, Hermann DM, Gunzer M, Singh V. Tuz AA, et al. Among authors: sickmann a. Nat Cardiovasc Res. 2024 May;3(5):525-540. doi: 10.1038/s44161-024-00462-8. Epub 2024 Apr 23. Nat Cardiovasc Res. 2024. PMID: 39195931 Free PMC article.
327 results