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Page 1
Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy.
Daya NM, Mavrommatis L, Zhuge H, Athamneh M, Roos A, Gläser D, Doering K, Zaehres H, Vorgerd M, Güttsches AK. Daya NM, et al. Among authors: guttsches ak. Stem Cell Res. 2023 Oct;72:103210. doi: 10.1016/j.scr.2023.103210. Epub 2023 Sep 21. Stem Cell Res. 2023. PMID: 37748332 Free article.
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene.
Erbe LS, Hoffjan S, Janßen S, Kneifel M, Krause K, Gerding WM, Döring K, Güttsches AK, Roos A, Buena Atienza E, Gross C, Lücke T, Nguyen HHP, Vorgerd M, Köhler C. Erbe LS, et al. Among authors: guttsches ak. Int J Mol Sci. 2023 Sep 28;24(19):14716. doi: 10.3390/ijms241914716. Int J Mol Sci. 2023. PMID: 37834164 Free PMC article.
Generation of two human iPSC lines (HIMRi002-A and HIMRi003-A) derived from Caveolinopathy patients with rippling muscle disease.
Boeing A, Mavrommatis L, Daya NM, Zhuge H, Volke L, Kocabas A, Kneifel M, Athamneh M, Krause K, Südkamp N, Döring K, Theiss C, Roos A, Zaehres H, Güttsches AK, Vorgerd M. Boeing A, et al. Among authors: guttsches ak. Stem Cell Res. 2023 Oct;72:103220. doi: 10.1016/j.scr.2023.103220. Epub 2023 Oct 4. Stem Cell Res. 2023. PMID: 37839261 Free article.
FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data.
Kley RA, Leber Y, Schrank B, Zhuge H, Orfanos Z, Kostan J, Onipe A, Sellung D, Güttsches AK, Eggers B, Jacobsen F, Kress W, Marcus K, Djinovic-Carugo K, van der Ven PFM, Fürst DO, Vorgerd M. Kley RA, et al. Among authors: guttsches ak. Neurol Genet. 2021 May 18;7(3):e590. doi: 10.1212/NXG.0000000000000590. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 34235269 Free PMC article.
Small fiber involvement is independent from clinical pain in late-onset Pompe disease.
Enax-Krumova EK, Dahlhaus I, Görlach J, Claeys KG, Montagnese F, Schneider L, Sturm D, Fangerau T, Schlierbach H, Roth A, Wanschitz JV, Löscher WN, Güttsches AK, Vielhaber S, Hasseli R, Zunk L, Krämer HH, Hahn A, Schoser B, Rosenbohm A, Schänzer A. Enax-Krumova EK, et al. Among authors: guttsches ak. Orphanet J Rare Dis. 2022 Apr 27;17(1):177. doi: 10.1186/s13023-022-02327-4. Orphanet J Rare Dis. 2022. PMID: 35477515 Free PMC article.
29 results