Todorova A - Search Results

1

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

2

C283Y mutation and other C-terminal nucleotide changes in the gamma-sarcoglycan gene in the Bulgarian Gypsy population.

Todorova A, Ashikov A, Beltcheva O, Tournev I, Kremensky I. Todorova A, et al. Hum Mutat. 1999;14(1):40-4. doi: 10.1002/(SICI)1098-1004(1999)14:1<40::AID-HUMU5>3.0.CO;2-R. Hum Mutat. 1999. PMID: 10447257

3

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.

4

Screening for C283Y gamma-sarcoglycan mutation in a high-risk group of Bulgarian Gypsies: evidence for a geographical localization and a non-random distribution among Gypsy subgroups.

Todorova A, Tournev I, Ninova N, Georgieva V, Kremensky I. Todorova A, et al. Community Genet. 2002;5(4):217-21. doi: 10.1159/000066687. Community Genet. 2002. PMID: 14960875

5

C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high-risk community.

Georgieva B, Todorova A, Tournev I, Mitev V, Kremensky I. Georgieva B, et al. Among authors: todorova a. Clin Genet. 2004 Nov;66(5):467-72. doi: 10.1111/j.1399-0004.2004.00335.x. Clin Genet. 2004. PMID: 15479193

6

550delA mutation in the calpain 3 (CAPN3) gene: DMD/BMD, SMA, or LGMD2A--clinically misdiagnosed cases.

Georgieva B, Todorova A, Tournev I, Mitev V, Plageras P, Kremensky I. Georgieva B, et al. Among authors: todorova a. Am J Med Genet A. 2005 Aug 1;136A(4):399-400. doi: 10.1002/ajmg.a.30809. Am J Med Genet A. 2005. PMID: 16001438 No abstract available.

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

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

9

A unified rapid PCR method for detection of normal and expanded trinucleotide alleles of CAG repeats in huntington chorea and CGG repeats in fragile X syndrome.

Todorov T, Todorova A, Georgieva B, Mitev V. Todorov T, et al. Among authors: todorova a. Mol Biotechnol. 2010 Jun;45(2):150-4. doi: 10.1007/s12033-010-9260-y. Mol Biotechnol. 2010. PMID: 20217280

10

Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA.

Todorov T, Todorova A, Kirov A, Dimitrov B, Carvalho R, Nygren AO, Boneva I, Mitev V. Todorov T, et al. Among authors: todorova a. BMJ Case Rep. 2009;2009:bcr06.2008.0139. doi: 10.1136/bcr.06.2008.0139. Epub 2009 May 18. BMJ Case Rep. 2009. PMID: 21686918 Free PMC article.

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