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Chronic endoplasmic reticulum stress in myotonic dystrophy type 2 promotes autoimmunity via mitochondrial DNA release.
Rösing S, Ullrich F, Meisterfeld S, Schmidt F, Mlitzko L, Croon M, Nattrass RG, Eberl N, Mahlberg J, Schlee M, Wieland A, Simon P, Hilbig D, Reuner U, Rapp A, Bremser J, Mirtschink P, Drukewitz S, Zillinger T, Beissert S, Paeschke K, Hartmann G, Trifunovic A, Bartok E, Günther C. Rösing S, et al. Among authors: reuner u. Nat Commun. 2024 Feb 20;15(1):1534. doi: 10.1038/s41467-024-45535-1. Nat Commun. 2024. PMID: 38378748 Free PMC article.
Successful treatment of scleromyxoedema with daratumumab.
Epp K, Teipel R, Reuner U, Bornhäuser M, Günther C, Trautmann-Grill K. Epp K, et al. Among authors: reuner u. Br J Haematol. 2024 Mar 12. doi: 10.1111/bjh.19366. Online ahead of print. Br J Haematol. 2024. PMID: 38471663 No abstract available.
Generation of two induced pluripotent stem cell lines from a female adult homozygous for the Wilson disease associated ATP7B variant p.H1069Q (AKOSi008-A) and a healthy control (AKOSi009-A).
Petters J, Völkner C, Krohn S, Murua Escobar H, Bullerdiek J, Reuner U, Frech MJ, Hermann A, Lukas J. Petters J, et al. Among authors: reuner u. Stem Cell Res. 2020 Dec;49:102079. doi: 10.1016/j.scr.2020.102079. Epub 2020 Nov 5. Stem Cell Res. 2020. PMID: 33197697 Free article.
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, de Visser M, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, Ferreiro A. Villar-Quiles RN, et al. Among authors: reuner u. Neurology. 2020 Sep 15;95(11):e1512-e1527. doi: 10.1212/WNL.0000000000010327. Epub 2020 Aug 13. Neurology. 2020. PMID: 32796131 Free PMC article.
Left ventricular clefts - incidental finding or pathologic sign of Wilson's disease?
Zhang K, Reuner U, Weidauer M, Speiser U, Ibrahim K, Christoph M, Heinzel FR, Pieske B, Heidrich FM, Quick S. Zhang K, et al. Among authors: reuner u. Orphanet J Rare Dis. 2019 Nov 7;14(1):244. doi: 10.1186/s13023-019-1238-7. Orphanet J Rare Dis. 2019. PMID: 31699127 Free PMC article. Clinical Trial.
The interesting case-orphan diseases-double trouble.
Reuner U, Stremmel W, Weiskirchen R. Reuner U, et al. Ann Transl Med. 2019 Apr;7(Suppl 2):S74. doi: 10.21037/atm.2019.04.31. Ann Transl Med. 2019. PMID: 31179311 Free PMC article.
Cardiac and autonomic function in patients with Wilson's disease.
Quick S, Reuner U, Weidauer M, Hempel C, Heidrich FM, Mues C, Sveric KM, Ibrahim K, Reichmann H, Linke A, Speiser U. Quick S, et al. Among authors: reuner u. Orphanet J Rare Dis. 2019 Jan 28;14(1):22. doi: 10.1186/s13023-019-1007-7. Orphanet J Rare Dis. 2019. PMID: 30691535 Free PMC article.
Cardiac Manifestation of Wilson's Disease.
Quick S, Weidauer M, Heidrich FM, Sveric K, Reichmann H, Ibrahim K, Strasser RH, Linke A, Speiser U, Reuner U. Quick S, et al. Among authors: reuner u. J Am Coll Cardiol. 2018 Dec 4;72(22):2808-2809. doi: 10.1016/j.jacc.2018.08.2197. J Am Coll Cardiol. 2018. PMID: 30497569 Free article. No abstract available.
48 results