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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: kaneva r. Mol Vis. 2006 Aug 11;12:909-14. Mol Vis. 2006. PMID: 16917484 Free article.
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: kaneva r. 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.
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.
Kamenarova K, Cherninkova S, Romero Durán M, Prescott D, Valdés Sánchez ML, Mitev V, Kremensky I, Kaneva R, Bhattacharya SS, Tournev I, Chakarova C. Kamenarova K, et al. Among authors: kaneva r. Eur J Hum Genet. 2013 Mar;21(3):338-42. doi: 10.1038/ejhg.2012.158. Epub 2012 Aug 29. Eur J Hum Genet. 2013. PMID: 22929024 Free PMC article.
Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome.
Ivanova N, Peycheva V, Kamenarova K, Kancheva D, Tsekova I, Aleksandrova I, Hristova D, Litvinenko I, Todorova D, Sarailieva G, Dimova P, Tomov V, Bozhinova V, Mitev V, Kaneva R, Jordanova A. Ivanova N, et al. Among authors: kaneva r. Seizure. 2018 Jan;54:41-44. doi: 10.1016/j.seizure.2017.11.014. Epub 2017 Nov 28. Seizure. 2018. PMID: 29223885 Free article.
Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability.
Peycheva V, Kamenarova K, Ivanova N, Stamatov D, Avdjieva-Tzavella D, Alexandrova I, Zhelyazkova S, Pacheva I, Dimova P, Ivanov I, Litvinenko I, Bozhinova V, Tournev I, Simeonov E, Mitev V, Jordanova A, Kaneva R. Peycheva V, et al. Among authors: kaneva r. Gene. 2018 Aug 15;667:45-55. doi: 10.1016/j.gene.2018.05.015. Epub 2018 May 9. Gene. 2018. PMID: 29753047
200 results