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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: daya n. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662 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: daya nm. 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.
Orthostatic and Standing Hypertension and Risk of Cardiovascular Disease.
Dooley SW, Larbi Kwapong F, Col H, Turkson-Ocran RN, Ngo LH, Cluett JL, Mukamal KJ, Lipsitz LA, Zhang M, Daya NR, Selvin E, Lutsey PL, Coresh J, Windham BG, Wagenknecht L, Juraschek SP. Dooley SW, et al. Among authors: daya nr. Hypertension. 2024 Dec 5. doi: 10.1161/HYPERTENSIONAHA.124.23409. Online ahead of print. Hypertension. 2024. PMID: 39633562
75 results