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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: palecek t. Acta Ophthalmol. 2021 Feb;99(1):61-68. doi: 10.1111/aos.14478. Epub 2020 Jun 13. Acta Ophthalmol. 2021. PMID: 32533651 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. Among authors: palecek t. J Clin Med. 2020 Mar 29;9(4):937. doi: 10.3390/jcm9040937. J Clin Med. 2020. PMID: 32235386 Free PMC article.
Patisiran Treatment in Patients with Transthyretin Cardiac Amyloidosis.
Maurer MS, Kale P, Fontana M, Berk JL, Grogan M, Gustafsson F, Hung RR, Gottlieb RL, Damy T, González-Duarte A, Sarswat N, Sekijima Y, Tahara N, Taylor MS, Kubanek M, Donal E, Palecek T, Tsujita K, Tang WHW, Yu WC, Obici L, Simões M, Fernandes F, Poulsen SH, Diemberger I, Perfetto F, Solomon SD, Di Carli M, Badri P, White MT, Chen J, Yureneva E, Sweetser MT, Jay PY, Garg PP, Vest J, Gillmore JD; APOLLO-B Trial Investigators. Maurer MS, et al. Among authors: palecek t. N Engl J Med. 2023 Oct 26;389(17):1553-1565. doi: 10.1056/NEJMoa2300757. N Engl J Med. 2023. PMID: 37888916 Free PMC article. Clinical Trial.
Right ventricular involvement in Fabry disease.
Palecek T, Dostalova G, Kuchynka P, Karetova D, Bultas J, Elleder M, Linhart A. Palecek T, et al. J Am Soc Echocardiogr. 2008 Nov;21(11):1265-8. doi: 10.1016/j.echo.2008.09.002. Epub 2008 Oct 4. J Am Soc Echocardiogr. 2008. PMID: 18835697
Current Diagnostic and Therapeutic Aspects of Eosinophilic Myocarditis.
Kuchynka P, Palecek T, Masek M, Cerny V, Lambert L, Vitkova I, Linhart A. Kuchynka P, et al. Among authors: palecek t. Biomed Res Int. 2016;2016:2829583. doi: 10.1155/2016/2829583. Epub 2016 Jan 17. Biomed Res Int. 2016. PMID: 26885504 Free PMC article. Review.
101 results