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Wilson's disease in two consecutive generations in a Bulgarian Roma family.
Mihaylova V, Todorov T, Jelev H, Cherninkova S, Raycheva M, Savov A, Kremensky I, Tournev I. Mihaylova V, et al. Among authors: tournev i. J Neurol. 2007 Oct;254(10):1462-3. doi: 10.1007/s00415-007-0564-1. Epub 2007 Aug 14. J Neurol. 2007. PMID: 17694349 No abstract available.
Unique PABPN1 gene mutation in a large Bulgarian family with OPMD.
Mihaylova V, Müller T, Petrova I, Tournev I, Cherninkova S, Walter MC, Deschauer M. Mihaylova V, et al. Among authors: tournev i. J Neurol. 2008 Apr;255(4):609-11. doi: 10.1007/s00415-008-0769-y. Epub 2008 Feb 19. J Neurol. 2008. PMID: 18274805 No abstract available.
Evoked Potentials in Patients With Wilson Disease.
Mihaylova VM, Kosseva OR, Kotzev IA, Georgiev G, Kremensky IM, Todorov TN, Tournev IL. Mihaylova VM, et al. J Clin Neurophysiol. 2022 Sep 1;39(6):510-512. doi: 10.1097/WNP.0000000000000797. Epub 2020 Nov 10. J Clin Neurophysiol. 2022. PMID: 33181595
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: tournev i. Neurology. 2011 Dec 13;77(24):2105-14. doi: 10.1212/WNL.0b013e31823dc51e. Epub 2011 Nov 30. Neurology. 2011. PMID: 22131542
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L, Gitzelmann R. Kalaydjieva L, et al. Among authors: tournev i. Am J Hum Genet. 1999 Nov;65(5):1299-307. doi: 10.1086/302611. Am J Hum Genet. 1999. PMID: 10521295 Free PMC article.
152 results