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Page 1
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: guergueltcheva v. 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
Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations.
Tournev I, Kalaydjieva L, Youl B, Ishpekova B, Guergueltcheva V, Kamenov O, Katzarova M, Kamenov Z, Raicheva-Terzieva M, King RH, Romanski K, Petkov R, Schmarov A, Dimitrova G, Popova N, Uzunova M, Milanov S, Petrova J, Petkov Y, Kolarov G, Aneva L, Radeva O, Thomas PK. Tournev I, et al. Among authors: guergueltcheva v. Ann Neurol. 1999 Jun;45(6):742-50. Ann Neurol. 1999. PMID: 10360766
Mutation history of the roma/gypsies.
Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, Schmidt C, Abicht A, Lochmuller H, Tordai A, Kalmar L, Nagy M, Karcagi V, Jeanpierre M, Herczegfalvi A, Beeson D, Venkataraman V, Warwick Carter K, Reeve J, de Pablo R, Kucinskas V, Kalaydjieva L. Morar B, et al. Among authors: guergueltcheva v. Am J Hum Genet. 2004 Oct;75(4):596-609. doi: 10.1086/424759. Epub 2004 Aug 20. Am J Hum Genet. 2004. PMID: 15322984 Free PMC article.
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands.
Kalaydjieva L, Lochmüller H, Tournev I, Baas F, Beres J, Colomer J, Guergueltcheva V, Herrmann R, Karcagi V, King R, Miyata T, Müllner-Eidenböck A, Okuda T, Milic Rasic V, Santos M, Talim B, Vilchez J, Walter M, Urtizberea A, Merlini L. Kalaydjieva L, et al. Among authors: guergueltcheva v. Neuromuscul Disord. 2005 Jan;15(1):65-71. doi: 10.1016/j.nmd.2004.09.008. Epub 2004 Nov 26. Neuromuscul Disord. 2005. PMID: 15639123 No abstract available.
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE. Senderek J, et al. Among authors: guergueltcheva v. Am J Hum Genet. 2009 Apr;84(4):511-8. doi: 10.1016/j.ajhg.2009.03.006. Epub 2009 Apr 2. Am J Hum Genet. 2009. PMID: 19344878 Free PMC article.
Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.
Angelicheva D, Tournev I, Guergueltcheva V, Mihaylova V, Azmanov DN, Morar B, Radionova M, Smith SJ, Zlatareva D, Stevens JM, Kaneva R, Bojinova V, Carter K, Brown M, Jablensky A, Kalaydjieva L, Sander JW. Angelicheva D, et al. Among authors: guergueltcheva v. Epilepsia. 2009 Jul;50(7):1679-88. doi: 10.1111/j.1528-1167.2009.02066.x. Epub 2009 Mar 23. Epilepsia. 2009. PMID: 19400876 Free article.
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).
Hantke J, Chandler D, King R, Wanders RJ, Angelicheva D, Tournev I, McNamara E, Kwa M, Guergueltcheva V, Kaneva R, Baas F, Kalaydjieva L. Hantke J, et al. Among authors: guergueltcheva v. Eur J Hum Genet. 2009 Dec;17(12):1606-14. doi: 10.1038/ejhg.2009.99. Epub 2009 Jun 17. Eur J Hum Genet. 2009. PMID: 19536174 Free PMC article.
A novel GEFS+ locus on 12p13.33 in a large Roma family.
Morar B, Zhelyazkova S, Azmanov DN, Radionova M, Angelicheva D, Guergueltcheva V, Kaneva R, Scheffer IE, Tournev I, Kalaydjieva L, Sander JW. Morar B, et al. Among authors: guergueltcheva v. Epilepsy Res. 2011 Nov;97(1-2):198-207. doi: 10.1016/j.eplepsyres.2011.08.009. Epub 2011 Sep 13. Epilepsy Res. 2011. PMID: 21917424
66 results