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Small fibre neuropathy in Fabry disease: a human-derived neuronal in vitro disease model and pilot data.
Klein T, Grüner J, Breyer M, Schlegel J, Schottmann NM, Hofmann L, Gauss K, Mease R, Erbacher C, Finke L, Klein A, Klug K, Karl-Schöller F, Vignolo B, Reinhard S, Schneider T, Günther K, Fink J, Dudek J, Maack C, Klopocki E, Seibel J, Edenhofer F, Wischmeyer E, Sauer M, Üçeyler N. Klein T, et al. Among authors: uceyler n. Brain Commun. 2024 Apr 3;6(2):fcae095. doi: 10.1093/braincomms/fcae095. eCollection 2024. Brain Commun. 2024. PMID: 38638148 Free PMC article.
Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene.
Klein T, Günther K, Kwok CK, Edenhofer F, Üçeyler N. Klein T, et al. Among authors: uceyler n. Stem Cell Res. 2018 Aug;31:222-226. doi: 10.1016/j.scr.2018.08.009. Epub 2018 Aug 10. Stem Cell Res. 2018. PMID: 30130681 Free article.
Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5.
Klein T, Henkel L, Klug K, Kwok CK, Klopocki E, Üçeyler N. Klein T, et al. Among authors: uceyler n. Stem Cell Res. 2018 Dec;33:171-174. doi: 10.1016/j.scr.2018.10.017. Epub 2018 Oct 12. Stem Cell Res. 2018. PMID: 30384131 Free article.
200 results