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Page 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: taneva 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
MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance.
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: taneva 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
Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria.
Chamova T, Gospodinova M, Asenov O, Todorov T, Pavlova Z, Kirov A, Cherninkova S, Kastreva K, Taneva A, Blagoeva S, Zhelyazkova S, Antimov P, Chobanov K, Todorova A, Tournev I. Chamova T, et al. Among authors: taneva a. Front Neurol. 2022 Apr 8;13:844595. doi: 10.3389/fneur.2022.844595. eCollection 2022. Front Neurol. 2022. PMID: 35463150 Free PMC article.
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C. Servián-Morilla E, et al. Among authors: taneva a. Acta Neuropathol. 2020 Mar;139(3):565-582. doi: 10.1007/s00401-019-02117-6. Epub 2020 Jan 3. Acta Neuropathol. 2020. PMID: 31897643 Free PMC article.
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.
Taneva A, Gresham D, Guergueltcheva V, Chamova T, Bojinova V, Gospodinova M, Katzarova M, Petkov R, Voit T, Aneva L, Asenov O, Georgieva B, Mihaylova V, Bichev S, Todorov T, Todorova A, Kalaydjieva L, Tournev I. Taneva A, et al. Genes (Basel). 2024 Aug 30;15(9):1144. doi: 10.3390/genes15091144. Genes (Basel). 2024. PMID: 39336735 Free PMC article.