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Page 1
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: kremensky 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.
Ethnic specific background of mutations in Bulgarian patients with Wilson disease.
Todorov T, Savov A, Mihaylova V, Buettner J, Koseva O, Krustev Z, Jelev H, Tournev I, Penkov V, Konstantinova D, Tankova L, Tzolova N, Kremensky I, Schmidt H. Todorov T, et al. Among authors: kremensky i. Genet Couns. 2007;18(4):445-50. Genet Couns. 2007. PMID: 18286826 No abstract available.
Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.
Mihaylova V, Hantke J, Sinigerska I, Cherninkova S, Raicheva M, Bouwer S, Tincheva R, Khuyomdziev D, Bertranpetit J, Chandler D, Angelicheva D, Kremensky I, Seeman P, Tournev I, Kalaydjieva L. Mihaylova V, et al. Among authors: kremensky i. Brain. 2007 Apr;130(Pt 4):1050-61. doi: 10.1093/brain/awm026. Epub 2007 Mar 14. Brain. 2007. PMID: 17360762
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: kremensky 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.
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V. Jordanova A, et al. Among authors: kremensky i. Brain. 2003 Mar;126(Pt 3):590-7. doi: 10.1093/brain/awg059. Brain. 2003. PMID: 12566280
Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.
Chakarova CF, Cherninkova S, Tournev I, Waseem N, Kaneva R, Jordanova A, Veraitch BK, Gill B, Colclough T, Nakova A, Oscar A, Mihaylova V, Nikolova-Hill A, Wright AF, Black GC, Ramsden S, Kremensky I, Bhattacharya SS. Chakarova CF, et al. Among authors: kremensky i. Mol Vis. 2006 Aug 11;12:909-14. Mol Vis. 2006. PMID: 16917484 Free article.
91 results