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GNE genotype explains 20% of phenotypic variability in GNE myopathy.
Pogoryelova O, Wilson IJ, Mansbach H, Argov Z, Nishino I, Lochmüller H. Pogoryelova O, et al. Neurol Genet. 2019 Feb 1;5(1):e308. doi: 10.1212/NXG.0000000000000308. eCollection 2019 Feb. Neurol Genet. 2019. PMID: 30842975 Free PMC article.
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
Chaouch A, Brennan KM, Hudson J, Longman C, McConville J, Morrison PJ, Farrugia ME, Petty R, Stewart W, Norwood F, Horvath R, Chinnery PF, Costigan D, Winer J, Polvikoski T, Healy E, Sarkozy A, Evangelista T, Pogoryelova O, Eagle M, Bushby K, Straub V, Lochmüller H. Chaouch A, et al. Among authors: pogoryelova o. J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1359-65. doi: 10.1136/jnnp-2013-306314. Epub 2014 Apr 2. J Neurol Neurosurg Psychiatry. 2014. PMID: 24695763 Free PMC article.
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: pogoryelova o. 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
Beevor's sign: a potential clinical marker for GNE myopathy.
Preethish-Kumar V, Pogoryelova O, Polavarapu K, Gayathri N, Seena V, Hudson J, Nishino I, Prasad C, Lochmüller H, Nalini A. Preethish-Kumar V, et al. Among authors: pogoryelova o. Eur J Neurol. 2016 Aug;23(8):e46-8. doi: 10.1111/ene.13041. Eur J Neurol. 2016. PMID: 27431025 No abstract available.
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.
Pogoryelova O, Cammish P, Mansbach H, Argov Z, Nishino I, Skrinar A, Chan Y, Nafissi S, Shamshiri H, Kakkis E, Lochmüller H. Pogoryelova O, et al. Neuromuscul Disord. 2018 Feb;28(2):158-168. doi: 10.1016/j.nmd.2017.11.001. Epub 2017 Nov 14. Neuromuscul Disord. 2018. PMID: 29305133 Free PMC article.
A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.
Lochmüller H, Behin A, Caraco Y, Lau H, Mirabella M, Tournev I, Tarnopolsky M, Pogoryelova O, Woods C, Lai A, Shah J, Koutsoukos T, Skrinar A, Mansbach H, Kakkis E, Mozaffar T. Lochmüller H, et al. Among authors: pogoryelova o. Neurology. 2019 Apr 30;92(18):e2109-e2117. doi: 10.1212/WNL.0000000000006932. Epub 2019 Jan 25. Neurology. 2019. PMID: 31036580 Free PMC article. Clinical Trial.
Economic Costs of Myasthenia Gravis: A Systematic Review.
Landfeldt E, Pogoryelova O, Sejersen T, Zethraeus N, Breiner A, Lochmüller H. Landfeldt E, et al. Among authors: pogoryelova o. Pharmacoeconomics. 2020 Jul;38(7):715-728. doi: 10.1007/s40273-020-00912-8. Pharmacoeconomics. 2020. PMID: 32363541
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