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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: krebsova a. 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.
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: krebsova a. 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
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. Among authors: krebsova a. 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: krebsova a. Acta Ophthalmol. 2021 Feb;99(1):61-68. doi: 10.1111/aos.14478. Epub 2020 Jun 13. Acta Ophthalmol. 2021. PMID: 32533651 Free 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. 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.
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
Křenková P, Piskáčková T, Holubová A, Balaščaková M, Krulišová V, Čamajová J, Turnovec M, Libik M, Norambuena P, Štambergová A, Dvořáková L, Skalická V, Bartošová J, Kučerová T, Fila L, Zemková D, Vávrová V, Koudová M, Macek M, Krebsová A, Macek M Jr. Křenková P, et al. Among authors: krebsova a. J Cyst Fibros. 2013 Sep;12(5):532-7. doi: 10.1016/j.jcf.2012.12.002. Epub 2012 Dec 29. J Cyst Fibros. 2013. PMID: 23276700 Free article.
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.
Van Gucht I, Krebsova A, Diness BR, Laga S, Adlam D, Kempers M, Samani NJ, Webb TR, Baranowska AA, Van Den Heuvel L, Perik M, Luyckx I, Peeters N, Votypka P, Macek M, Meester J, Van Laer L, Verstraeten A, Loeys BL. Van Gucht I, et al. Among authors: krebsova a. Int J Mol Sci. 2021 Jul 1;22(13):7111. doi: 10.3390/ijms22137111. Int J Mol Sci. 2021. PMID: 34281165 Free PMC article.
38 results