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Reply: Mutations in TUBB4A and spastic paraplegia.
Chamova T, Kancheva D, Guergueltcheva V, Mitev V, Azmanov DN, Kalaydjieva L, Jordanova A, Tournev I. Chamova T, et al. Among authors: kalaydjieva l. Mov Disord. 2015 Nov;30(13):1858-9. doi: 10.1002/mds.26442. Epub 2015 Oct 19. Mov Disord. 2015. PMID: 26477690 No abstract available.
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Guergueltcheva V, Azmanov DN, Angelicheva D, Smith KR, Chamova T, Florez L, Bynevelt M, Nguyen T, Cherninkova S, Bojinova V, Kaprelyan A, Angelova L, Morar B, Chandler D, Kaneva R, Bahlo M, Tournev I, Kalaydjieva L. Guergueltcheva V, et al. Among authors: kalaydjieva l. Am J Hum Genet. 2012 Sep 7;91(3):553-64. doi: 10.1016/j.ajhg.2012.07.019. Epub 2012 Aug 16. Am J Hum Genet. 2012. PMID: 22901947 Free PMC article.
Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia.
Mišković ND, Domingo A, Dobričić V, Max C, Braenne I, Petrović I, Grütz K, Pawlack H, Tournev I, Kalaydjieva L, Svetel M, Lohmann K, Kostić VS, Westenberger A. Mišković ND, et al. Among authors: kalaydjieva l. Mov Disord. 2016 Dec;31(12):1929-1931. doi: 10.1002/mds.26816. Epub 2016 Oct 27. Mov Disord. 2016. PMID: 27787937 No abstract available.
Challenges of diagnostic exome sequencing in an inbred founder population.
Azmanov DN, Chamova T, Tankard R, Gelev V, Bynevelt M, Florez L, Tzoneva D, Zlatareva D, Guergueltcheva V, Bahlo M, Tournev I, Kalaydjieva L. Azmanov DN, et al. Among authors: kalaydjieva l. Mol Genet Genomic Med. 2013 Jul;1(2):71-6. doi: 10.1002/mgg3.7. Epub 2013 Apr 22. Mol Genet Genomic Med. 2013. PMID: 24498604 Free PMC article.
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
Ivanov IS, Azmanov DN, Ivanova MB, Chamova T, Pacheva IH, Panova MV, Song S, Morar B, Yordanova RV, Galabova FK, Sotkova IG, Linev AJ, Bitchev S, Shearwood AM, Kancheva D, Gabrikova D, Karcagi V, Guergueltcheva V, Geneva IE, Bozhinova V, Stoyanova VK, Kremensky I, Jordanova A, Savov A, Horvath R, Brown MA, Tournev I, Filipovska A, Kalaydjieva L. Ivanov IS, et al. Among authors: kalaydjieva l. Mol Genet Metab. 2014 Sep-Oct;113(1-2):76-83. doi: 10.1016/j.ymgme.2014.07.017. Epub 2014 Jul 21. Mol Genet Metab. 2014. PMID: 25087164 Free article.
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: kalaydjieva l. 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
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: kalaydjieva l. 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.
171 results