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Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
Majer F, Kousal B, Dusek P, Piherova L, Reboun M, Mihalova R, Gurka J, Krebsova A, Vlaskova H, Dvorakova L, Krihova J, Liskova P, Kmoch S, Kalina T, Kubanek M, Sikora J. Majer F, et al. Among authors: kubanek m. Am J Med Genet A. 2020 Jan;182(1):219-223. doi: 10.1002/ajmg.a.61416. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729179
Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.
Hartmannova H, Kubanek M, Sramko M, Piherova L, Noskova L, Hodanova K, Stranecky V, Pristoupilova A, Sovova J, Marek T, Maluskova J, Ridzon P, Kautzner J, Hulkova H, Kmoch S. Hartmannova H, et al. Among authors: kubanek m. Circ Cardiovasc Genet. 2013 Dec;6(6):543-51. doi: 10.1161/CIRCGENETICS.113.000245. Epub 2013 Oct 10. Circ Cardiovasc Genet. 2013. PMID: 24114807
Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates.
Chaloupka A, Piherova L, Grochova I, Binova J, Krejci J, Spinarova L, Stranecky V, Kmoch S, Kubanek M. Chaloupka A, et al. Among authors: kubanek m. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019 Dec;163(4):309-317. doi: 10.5507/bp.2018.054. Epub 2018 Sep 24. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019. PMID: 30275597 Free article.
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
Kubánek M, Schimerová T, Piherová L, Brodehl A, Krebsová A, Ratnavadivel S, Stanasiuk C, Hansíková H, Zeman J, Paleček T, Houštěk J, Drahota Z, Nůsková H, Mikešová J, Zámečník J, Macek M Jr, Ridzoň P, Malusková J, Stránecký V, Melenovský V, Milting H, Kmoch S. Kubánek M, et al. J Clin Med. 2020 Mar 29;9(4):937. doi: 10.3390/jcm9040937. J Clin Med. 2020. PMID: 32235386 Free PMC article.
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
Kousal B, Majer F, Vlaskova H, Dvorakova L, Piherova L, Meliska M, Langrova H, Palecek T, Kubanek M, Krebsova A, Gurka J, Stara V, Michaelides M, Kalina T, Sikora J, Liskova P. Kousal B, et al. Among authors: kubanek m. Acta Ophthalmol. 2021 Feb;99(1):61-68. doi: 10.1111/aos.14478. Epub 2020 Jun 13. Acta Ophthalmol. 2021. PMID: 32533651 Free article.
Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.
Gurka J, Piherova L, Majer F, Chaloupka A, Zakova D, Pelak O, Krebsova A, Peichl P, Krejci J, Freiberger T, Melenovsky V, Kautzner J, Kalina T, Sikora J, Kubanek M. Gurka J, et al. Among authors: kubanek m. ESC Heart Fail. 2020 Oct;7(5):2534-2543. doi: 10.1002/ehf2.12823. Epub 2020 Jul 13. ESC Heart Fail. 2020. PMID: 32657043 Free PMC article.
Natural History of MYH7-Related Dilated Cardiomyopathy.
de Frutos F, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, Méndez I, Lorca R, Verdonschot JAJ, García-Granja PE, Bilinska Z, Fatkin D, Fuentes-Cañamero ME, García-Pinilla JM, García-Álvarez MI, Girolami F, Barriales-Villa R, Díez-López C, Lopes LR, Wahbi K, García-Álvarez A, Rodríguez-Sánchez I, Rekondo-Olaetxea J, Rodríguez-Palomares JF, Gallego-Delgado M, Meder B, Kubanek M, Hansen FG, Restrepo-Córdoba MA, Palomino-Doza J, Ruiz-Guerrero L, Sarquella-Brugada G, Perez-Perez AJ, Bermúdez-Jiménez FJ, Ripoll-Vera T, Rasmussen TB, Jansen M, Sabater-Molina M, Elliot PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. de Frutos F, et al. Among authors: kubanek m. J Am Coll Cardiol. 2022 Oct 11;80(15):1447-1461. doi: 10.1016/j.jacc.2022.07.023. Epub 2022 Aug 22. J Am Coll Cardiol. 2022. PMID: 36007715 Free article.
42 results