Todorova A - Search Results

1

A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B.

Todorova A, Halliger-Keller B, Walter MC, Dabauvalle MC, Lochmüller H, Müller CR. Todorova A, et al. J Med Genet. 2003 Oct;40(10):e115. doi: 10.1136/jmg.40.10.e115. J Med Genet. 2003. PMID: 14569138 Free PMC article. No abstract available.

2

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.

Chamova T, Bichev S, Todorov T, Gospodinova M, Taneva A, Kastreva K, Zlatareva D, Krupev M, Hadjiivanov R, Guergueltcheva V, Grozdanova L, Tzoneva D, Huebner A, V der Hagen M, Schoser B, Lochmüller H, Todorova A, Tournev I. Chamova T, et al. Among authors: todorova a. Neuromuscul Disord. 2018 Aug;28(8):625-632. doi: 10.1016/j.nmd.2018.05.005. Epub 2018 May 17. Neuromuscul Disord. 2018. PMID: 29935994

3

First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene.

Pacheva I, Todorov T, Halil Z, Yordanova R, Todorova A, Geneva I, Galabova F, Ivanov I. Pacheva I, et al. Among authors: todorova a. Am J Med Genet A. 2019 Jun;179(6):1020-1024. doi: 10.1002/ajmg.a.61110. Epub 2019 Mar 13. Am J Med Genet A. 2019. PMID: 30868738

4

Novel mutations in the calpain 3 gene in Germany.

Todorova A, Kress W, Mueller C. Todorova A, et al. Clin Genet. 2005 Apr;67(4):356-8. doi: 10.1111/j.1399-0004.2005.00398.x. Clin Genet. 2005. PMID: 15733273 No abstract available.

5

MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients.

Todorova A, Todorov T, Georgieva B, Lukova M, Guergueltcheva V, Kremensky I, Mitev V. Todorova A, et al. Neuromuscul Disord. 2008 Aug;18(8):667-70. doi: 10.1016/j.nmd.2008.06.369. Epub 2008 Jul 23. Neuromuscul Disord. 2008. PMID: 18653336

6

Atemin S, Todorov T, Maver A, Chamova T, Georgieva B, Tincheva S, Pacheva I, Ivanov I, Taneva A, Zlatareva D, Tournev I, Guergueltcheva V, Gospodinova M, Chochkova L, Peterlin B, Mitev V, Todorova A. Atemin S, et al. Among authors: todorova a. Neuromuscul Disord. 2021 Jul;31(7):633-641. doi: 10.1016/j.nmd.2021.04.004. Epub 2021 Apr 26. Neuromuscul Disord. 2021. PMID: 34053846

7

A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.

Todorova A, Georgieva B, Tournev I, Todorov T, Bogdanova N, Mitev V, Mueller CR, Kremensky I, Horst J. Todorova A, et al. Neurogenetics. 2007 Aug;8(3):225-9. doi: 10.1007/s10048-007-0083-3. Epub 2007 Feb 23. Neurogenetics. 2007. PMID: 17318636

8

Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.

Chamova T, Kirov A, Guergueltcheva V, Todorov T, Bojinova V, Zhelyazkova S, Samuel J, Radionova M, Sarafov S, Cherninkova S, Krastev S, Todorova A, Tournev I. Chamova T, et al. Among authors: todorova a. Eur Neurol. 2016;75(3-4):113-23. doi: 10.1159/000444480. Epub 2016 Feb 25. Eur Neurol. 2016. PMID: 26910362

9

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: todorova a. 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

10

Monoallelic expression of the TTR gene as a contributor to the age at onset and penetrance of TTR-related amyloidosis.

Yordanova I, Pavlova Z, Kirov A, Todorov T, Alexiev A, Sarafov S, Mateva L, Chamova T, Gospodinova M, Mitev V, Tournev I, Todorova A. Yordanova I, et al. Among authors: todorova a. Gene. 2019 Jul 15;705:16-21. doi: 10.1016/j.gene.2019.04.030. Epub 2019 Apr 11. Gene. 2019. PMID: 30981840

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