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Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V.
Eckl KM, Gruber R, Brennan L, Marriott A, Plank R, Moosbrugger-Martinz V, Blunder S, Schossig A, Altmüller J, Thiele H, Nürnberg P, Zschocke J, Hennies HC, Schmuth M. Eckl KM, et al. Among authors: moosbrugger martinz v. Front Genet. 2021 Jul 12;12:689940. doi: 10.3389/fgene.2021.689940. eCollection 2021. Front Genet. 2021. PMID: 34322157 Free PMC article.
Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.
Seidl-Philipp M, Schatz UA, Gasslitter I, Moosbrugger-Martinz V, Blunder S, Schossig AS, Zschocke J, Schmuth M, Gruber R. Seidl-Philipp M, et al. J Dtsch Dermatol Ges. 2020 Jan;18(1):17-25. doi: 10.1111/ddg.13968. Epub 2019 Oct 23. J Dtsch Dermatol Ges. 2020. PMID: 31642606
Transglutaminase 1 Replacement Therapy Successfully Mitigates the Autosomal Recessive Congenital Ichthyosis Phenotype in Full-Thickness Skin Disease Equivalents.
Plank R, Yealland G, Miceli E, Lima Cunha D, Graff P, Thomforde S, Gruber R, Moosbrugger-Martinz V, Eckl K, Calderón M, Hennies HC, Hedtrich S. Plank R, et al. J Invest Dermatol. 2019 May;139(5):1191-1195. doi: 10.1016/j.jid.2018.11.002. Epub 2018 Nov 15. J Invest Dermatol. 2019. PMID: 30448383 Free article. No abstract available.
27 results