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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: robisch l. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662 Free PMC article.
Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant.
Della Marina A, Hentschel A, Stenzel M, Schara-Schmidt U, Osmanovic A, Ruck T, Grüneboom A, Röbisch L, Beygo J, Kölbel H, Gangfuss A, Kaiser FJ, Schänzer A, Kale D, Roos A. Della Marina A, et al. Among authors: robisch l. J Neuropathol Exp Neurol. 2024 Nov 1;83(11):979-983. doi: 10.1093/jnen/nlae071. J Neuropathol Exp Neurol. 2024. PMID: 39074165 No abstract available.