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Page 1
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.
Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmüller H. Bladen CL, et al. Among authors: chamova t. J Neurol. 2014 Jan;261(1):152-63. doi: 10.1007/s00415-013-7154-1. Epub 2013 Oct 27. J Neurol. 2014. PMID: 24162038
Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotype.
Gospodinova M, Zhelyazkova S, Chamova T, Asenov O, Pavlova Z, Todorov T, Mikova D, Palashev Y, Gruev I, Kundurdjiev A, Todorova A, Tournev I. Gospodinova M, et al. Among authors: chamova t. Front Cardiovasc Med. 2023 Oct 31;10:1228410. doi: 10.3389/fcvm.2023.1228410. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 38028480 Free PMC article.
Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria.
Atkinson D, Chamova T, Candayan A, Kastreva K, Asenov O, Litvinenko I, Estrada-Cuzcano A, De Vriendt E, Kukushev G, Tournev I, Jordanova A. Atkinson D, et al. Among authors: chamova t. Int J Mol Sci. 2024 Aug 21;25(16):9047. doi: 10.3390/ijms25169047. Int J Mol Sci. 2024. PMID: 39201732 Free PMC article.
Navigating the ALS Genetic Labyrinth: The Role of MAPT Haplotypes.
Tourtourikov I, Dabchev K, Todorov T, Angelov T, Chamova T, Tournev I, Kadiyska T, Mitev V, Todorova A. Tourtourikov I, et al. Among authors: chamova t. Genes (Basel). 2023 Oct 30;14(11):2023. doi: 10.3390/genes14112023. Genes (Basel). 2023. PMID: 38002967 Free PMC article.
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.
Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barišić N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloğlu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Béroud C, Lochmüller H. Bladen CL, et al. Among authors: chamova t. Hum Mutat. 2013 Nov;34(11):1449-57. doi: 10.1002/humu.22390. Epub 2013 Aug 26. Hum Mutat. 2013. PMID: 23913485
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: chamova t. Brain. 2015 Feb;138(Pt 2):293-310. doi: 10.1093/brain/awu356. Epub 2014 Dec 14. Brain. 2015. PMID: 25497877 Free PMC article.
56 results