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Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.
Guergueltcheva V, Peeters K, Baets J, Ceuterick-de Groote C, Martin JJ, Suls A, De Vriendt E, Mihaylova V, Chamova T, Almeida-Souza L, Ydens E, Tzekov C, Hadjidekov G, Gospodinova M, Storm K, Reyniers E, Bichev S, van der Ven PF, Fürst DO, Mitev V, Lochmüller H, Timmerman V, Tournev I, De Jonghe P, Jordanova A. Guergueltcheva V, et al. Among authors: gospodinova m. Neurology. 2011 Dec 13;77(24):2105-14. doi: 10.1212/WNL.0b013e31823dc51e. Epub 2011 Nov 30. Neurology. 2011. PMID: 22131542
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: gospodinova 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
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.
Chamova T, Bichev S, Todorov T, Gospodinova M, Taneva A, Kastreva K, Zlatareva D, Krupev M, Hadjiivanov R, Guergueltcheva V, Grozdanova L, Tzoneva D, Huebner A, V der Hagen M, Schoser B, Lochmüller H, Todorova A, Tournev I. Chamova T, et al. Among authors: gospodinova m. Neuromuscul Disord. 2018 Aug;28(8):625-632. doi: 10.1016/j.nmd.2018.05.005. Epub 2018 May 17. Neuromuscul Disord. 2018. PMID: 29935994
Founder effect of the Glu89Gln TTR mutation in the Bulgarian population.
Kirov A, Sarafov S, Pavlova Z, Todorov T, Chamova T, Gospodinova M, Tournev I, Mitev V, Todorova A. Kirov A, et al. Among authors: gospodinova m. Amyloid. 2019 Dec;26(4):181-185. doi: 10.1080/13506129.2019.1634539. Epub 2019 Jul 29. Amyloid. 2019. PMID: 31353960
Transthyretin Amyloidosis with Gastrointestinal Manifestation: a Case Report.
Nakov R, Sarafov S, Nakov V, Gospodinova M, Todorov T, Kirov A, Todorova A, Tournev I. Nakov R, et al. Among authors: gospodinova m. J Gastrointestin Liver Dis. 2019 Sep 1;28(3):359-361. doi: 10.15403/JGLD-422. J Gastrointestin Liver Dis. 2019. PMID: 31517333 Free article.
31 results