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Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
Azmanov DN, Siira SJ, Chamova T, Kaprelyan A, Guergueltcheva V, Shearwood AJ, Liu G, Morar B, Rackham O, Bynevelt M, Grudkova M, Kamenov Z, Svechtarov V, Tournev I, Kalaydjieva L, Filipovska A. Azmanov DN, et al. Among authors: grudkova m. Hum Mol Genet. 2016 Oct 1;25(19):4302-4314. doi: 10.1093/hmg/ddw263. Epub 2016 Aug 9. Hum Mol Genet. 2016. PMID: 27506977
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
Chamova T, Guergueltcheva V, Gospodinova M, Krause S, Cirak S, Kaprelyan A, Angelova L, Mihaylova V, Bichev S, Chandler D, Naydenov E, Grudkova M, Djukmedzhiev P, Voit T, Pogoryelova O, Lochmüller H, Goebel HH, Bahlo M, Kalaydjieva L, Tournev I. Chamova T, et al. Among authors: grudkova m. Neuromuscul Disord. 2015 Sep;25(9):713-8. doi: 10.1016/j.nmd.2015.07.004. Epub 2015 Jul 13. Neuromuscul Disord. 2015. PMID: 26231298
Effect of the Factor XIa Inhibitor Asundexian According to Baseline Infarct Pattern and on MRI Covert Infarct Outcomes.
Smith EE, Shoamanesh A, Xu L, Heenan L, Saad F, Colorado P, Chen CH, Lemmens R, De Marchis GM, Caso V, Masjuan J, Hirano T, Milanov I, Campbell BCV, Mas JL, Connolly SJ, Mundl H, Hart RG; PACIFIC-Stroke Steering Committee and Investigators. Smith EE, et al. Stroke. 2024 Feb;55(2):392-402. doi: 10.1161/STROKEAHA.123.043198. Epub 2024 Jan 4. Stroke. 2024. PMID: 38174569 Clinical Trial.