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2015 2
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2023 9
2024 5

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38 results

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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: hentschel a. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662
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: hentschel 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
Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis.
Preuße C, Paesler B, Nelke C, Cengiz D, Müntefering T, Roos A, Amelin D, Allenbach Y, Uruha A, Dittmayer C, Hentschel A, Pawlitzki M, Hoffmann S, Timm S, Louis SL, Dengler NF, Wiendl H, Lünemann JD, Sickmann A, Hervier B, Meuth SG, Schneider U, Schänzer A, Krause S, Tomaras S, Feist E, Hasseli R, Goebel HH, Gallay L, Streichenberger N, Benveniste O, Stenzel W, Ruck T. Preuße C, et al. Among authors: hentschel a. Acta Neuropathol. 2022 Aug;144(2):353-372. doi: 10.1007/s00401-022-02438-z. Epub 2022 May 25. Acta Neuropathol. 2022. PMID: 35612662 Free PMC article.
Post-COVID exercise intolerance is associated with capillary alterations and immune dysregulations in skeletal muscles.
Aschman T, Wyler E, Baum O, Hentschel A, Rust R, Legler F, Preusse C, Meyer-Arndt L, Büttnerova I, Förster A, Cengiz D, Alves LGT, Schneider J, Kedor C, Bellmann-Strobl J, Sanchin A, Goebel HH, Landthaler M, Corman V, Roos A, Heppner FL, Radbruch H, Paul F, Scheibenbogen C, Dengler NF, Stenzel W. Aschman T, et al. Among authors: hentschel a. Acta Neuropathol Commun. 2023 Dec 8;11(1):193. doi: 10.1186/s40478-023-01662-2. Acta Neuropathol Commun. 2023. PMID: 38066589 Free PMC article.
ArhGEF37 assists dynamin 2 during clathrin-mediated endocytosis.
Viplav A, Saha T, Huertas J, Selenschik P, Ebrahimkutty MP, Grill D, Lehrich J, Hentschel A, Biasizzo M, Mengoni S, Ahrends R, Gerke V, Cojocaru V, Klingauf J, Galic M. Viplav A, et al. Among authors: hentschel a. J Cell Sci. 2019 May 8;132(9):jcs226530. doi: 10.1242/jcs.226530. J Cell Sci. 2019. PMID: 30926623 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: hentschel a. Acta Neuropathol. 2024 Jan 19;147(1):19. doi: 10.1007/s00401-023-02673-y. Acta Neuropathol. 2024. PMID: 38240888 Free PMC article.
FYCO1 Increase and Effect of Arimoclomol-Treatment in Human VCP-Pathology.
Guettsches AK, Meyer N, Zahedi RP, Evangelista T, Muentefering T, Ruck T, Lacene E, Heute C, Gonczarowska-Jorge H, Schoser B, Krause S, Hentschel A, Vorgerd M, Roos A. Guettsches AK, et al. Among authors: hentschel a. Biomedicines. 2022 Sep 30;10(10):2443. doi: 10.3390/biomedicines10102443. Biomedicines. 2022. PMID: 36289705 Free PMC article.
Endoplasmic reticulum-stress and unfolded protein response-activation in immune-mediated necrotizing myopathy.
Preusse C, Marteau T, Fischer N, Hentschel A, Sickmann A, Lang S, Schneider U, Schara-Schmidt U, Meyer N, Ruck T, Dengler NF, Prudlo J, Dudesek A, Görl N, Allenbach Y, Benveniste O, Goebel HH, Dittmayer C, Stenzel W, Roos A. Preusse C, et al. Among authors: hentschel a. Brain Pathol. 2022 Nov;32(6):e13084. doi: 10.1111/bpa.13084. Epub 2022 Jun 15. Brain Pathol. 2022. PMID: 35703068 Free PMC article.
38 results