Litvinenko I - Search Results

1

One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.

Litvinenko I, Kirov AV, Georgieva R, Todorov T, Malinova Z, Mitev V, Todorova A. Litvinenko I, et al. J Child Neurol. 2014 Jun;29(6):799-802. doi: 10.1177/0883073813477203. Epub 2013 Feb 28. J Child Neurol. 2014. PMID: 23449687

2

One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene.

Yordanova I, Todorov T, Dimova P, Hristova D, Tincheva R, Litvinenko I, Yotovska O, Kremensky I, Todorova A. Yordanova I, et al. Among authors: litvinenko i. Neurosci Lett. 2011 Apr 25;494(2):180-3. doi: 10.1016/j.neulet.2011.03.008. Epub 2011 Mar 15. Neurosci Lett. 2011. PMID: 21396429

3

Analysis of the genes encoding neuroligins NLGN3 and NLGN4 in Bulgarian patients with autism.

Avdjieva-Tzavella DM, Todorov TP, Todorova AP, Kirov AV, Hadjidekova SP, Rukova BB, Litvinenko IO, Hristova-Naydenova DN, Tincheva RS, Toncheva DI. Avdjieva-Tzavella DM, et al. Among authors: litvinenko io. Genet Couns. 2012;23(4):505-11. Genet Couns. 2012. PMID: 23431752

4

A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier.

Todorova A, Litvinenko I, Todorov T, Tincheva R, Avdjieva D, Tincheva S, Mitev V. Todorova A, et al. Among authors: litvinenko i. Clin Genet. 2014 Mar;85(3):286-9. doi: 10.1111/cge.12148. Epub 2013 Apr 10. Clin Genet. 2014. PMID: 23574351

5

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN. Rossor AM, et al. Among authors: litvinenko i. Brain. 2015 Feb;138(Pt 2):293-310. doi: 10.1093/brain/awu356. Epub 2014 Dec 14. Brain. 2015. PMID: 25497877 Free PMC article.

6

Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.

Peeters K, Bervoets S, Chamova T, Litvinenko I, De Vriendt E, Bichev S, Kancheva D, Mitev V, Kennerson M, Timmerman V, De Jonghe P, Tournev I, MacMillan J, Jordanova A. Peeters K, et al. Among authors: litvinenko i. Hum Mutat. 2015 Mar;36(3):287-91. doi: 10.1002/humu.22744. Hum Mutat. 2015. PMID: 25512093

7

First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.

Tincheva S, Todorov T, Todorova A, Georgieva R, Stamatov D, Yordanova I, Kadiyska T, Georgieva B, Bojidarova M, Tacheva G, Litvinenko I, Mitev V. Tincheva S, et al. Among authors: litvinenko i. Neurol Sci. 2015 Dec;36(12):2209-12. doi: 10.1007/s10072-015-2338-3. Epub 2015 Aug 1. Neurol Sci. 2015. PMID: 26232297

8

Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions.

Tincheva S, Georgieva B, Todorov T, Savov A, Tsaneva S, Litvinenko I, Mitev V, Todorova A. Tincheva S, et al. Among authors: litvinenko i. Neuromuscul Disord. 2016 Oct;26(10):675-680. doi: 10.1016/j.nmd.2016.08.001. Epub 2016 Aug 11. Neuromuscul Disord. 2016. PMID: 27614575

9

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: litvinenko i. Gene. 2018 Aug 15;667:45-55. doi: 10.1016/j.gene.2018.05.015. Epub 2018 May 9. Gene. 2018. PMID: 29753047

10

Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes.

Glushkova M, Bojinova V, Koleva M, Dimova P, Bojidarova M, Litvinenko I, Todorov T, Iluca E, Calusaru C, Neagu E, Craiu D, Mitev V, Todorova A. Glushkova M, et al. Among authors: litvinenko i. J Genet. 2018 Jun;97(2):419-427. J Genet. 2018. PMID: 29932062 Free article.

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