Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Lenka Piherová"'
Autor:
Dita Musalkova, Lenka Piherova, Ondrej Kwasny, Zuzana Dindova, Lubor Stancik, Hana Hartmannova, Otomar Slama, Petra Peckova, Josef Pargac, Gabriel Minarik, Tomas Zima, Anthony J. Bleyer, Martin Radina, Michal Pohludka, Stanislav Kmoch
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract The inability to predict the evolution of the COVID-19 epidemic hampered abilities to respond to the crisis effectively. The cycle threshold (Ct) from the standard SARS-CoV-2 quantitative reverse transcription-PCR (RT-qPCR) clinical assay is
Externí odkaz:
https://doaj.org/article/38c3bdca53594a62aa92ef94dfe21fe6
Autor:
Jiri Gurka, Lenka Piherova, Filip Majer, Anna Chaloupka, Daniela Zakova, Ondrej Pelak, Alice Krebsova, Petr Peichl, Jan Krejci, Tomas Freiberger, Vojtech Melenovsky, Josef Kautzner, Tomas Kalina, Jakub Sikora, Milos Kubanek
Publikováno v:
ESC Heart Failure, Vol 7, Iss 5, Pp 2534-2543 (2020)
Abstract Aims Danon disease (DD) is a rare X‐linked disorder caused by mutations in the lysosomal‐associated membrane protein type 2 gene (LAMP2). DD is difficult to distinguish from other causes of dilated or hypertrophic cardiomyopathy (HCM) in
Externí odkaz:
https://doaj.org/article/f82c5a15de5141a49aaf81de1fa209bd
Autor:
Kateřina Bouzková, Miloš Kubánek, Alice Krebsová, Lenka Piherová, Petr Ridzoň, Tomáš Roubíček, Stanislav Kmoch, Vojtěch Melenovský, Josef Kautzner
Publikováno v:
Cor et Vasa. 64:468-473
Autor:
Alice Krebsová, Vojtech Melenovsky, Lenka Piherová, Petr Peichl, Ondrej Pelak, Jakub Sikora, Tomáš Freiberger, Filip Majer, Daniela Zakova, Anna Chaloupka, Jiri Gurka, Josef Kautzner, Jan Krejčí, Tomas Kalina, Milos Kubanek
Publikováno v:
ESC Heart Failure, Vol 7, Iss 5, Pp 2534-2543 (2020)
Aims Danon disease (DD) is a rare X‐linked disorder caused by mutations in the lysosomal‐associated membrane protein type 2 gene (LAMP2). DD is difficult to distinguish from other causes of dilated or hypertrophic cardiomyopathy (HCM) in female p
Autor:
Petra Liskova, Filip Majer, Alice Krebsová, Jiri Gurka, Tomas Palecek, Jakub Sikora, Tomas Kalina, Lenka Dvorakova, Lenka Piherová, Bohdan Kousal, Veronika Stará, Hana Vlaskova, Michel Michaelides, Milos Kubanek, Hana Langrová, Martin Meliska
Publikováno v:
Acta Ophthalmologica. 99:61-68
Danon disease (DD) is a rare X-linked disorder caused by pathogenic variants in LAMP2. DD primarily manifests as a severe cardiomyopathy. An early diagnosis is crucial for patient survival. The aim of the study was to determine the usefulness of ocul
Autor:
Jan Krejčí, Milos Kubanek, Lenka Špinarová, Anna Chaloupka, Lenka Piherová, Ilga Grochová, Jana Bínová, Viktor Stranecky, Stanislav Kmoch
Publikováno v:
Biomedical Papers, Vol 163, Iss 4, Pp 309-317 (2019)
Aims: Recent-onset dilated cardiomyopathy (RODCM) is a disease of heterogeneous aetiology and clinical outcome. In this pilot study, we aimed to assess its genetic architecture and correlate genotype with left ventricular reverse remodelling (LVRR).
Autor:
Milos Kubanek, Lenka Piherová, Martin Reboun, Hana Vlaskova, Tomas Kalina, Bohdan Kousal, Lenka Dvorakova, Stanislav Kmoch, Jiri Gurka, Filip Majer, Romana Mihalova, Jana Krihova, Petr Dusek, Alice Krebsová, Petra Liskova, Jakub Sikora
Publikováno v:
American Journal of Medical Genetics Part A. 182:219-223
Cullin 4B (CUL4B), lysosomal-associated membrane protein Type 2 (LAMP2), ATP1B4, TMEM255A, and ZBTB33 are neighboring genes on Xq24. Mutations in CUL4B result in Cabezas syndrome (CS). Male CS patients present with dysmorphic, neuropsychiatric, genit
Autor:
Milan Macek, Patricia Norambuena, Stanislav Kmoch, Lenka Piherová, Viktor Stranecky, A Krebsova, D Wichterle, J Kautzner, Petr Peichl, Robert Cihak
Publikováno v:
European Heart Journal. 42
Background Nonischaemic cardiomyopathy (NICM) represents a heterogenic disorder with a variable arrhythmogenic substrate. Its location is often epicardial and catheter ablation in this location proved to be an effective therapeutic modality in NICM p
Autor:
Gijs W. E. Santen, Damara Ortiz, Elisabeth M. Lodder, Francesca Clementina Radio, Michael V. Airola, Monique C. Haak, Dominic S Zimmerman, Quinn Gunst, Peter de Knijff, Katherine H. Kim, Viktor Stránecký, Stanislav Kmoch, Hiba Mustafa, Dmitriy Niyazov, H. Alex Brown, Najim Lahrouchi, Jamille Y. Robinson, Rick H. de Leeuw, Anne Sophie Denommé-Pichon, Sara Cherny, George A. Tanteles, Mariam Hababa, Joey V. Barnett, Doris Škorić-Milosavljević, Annemiek C. Dutman, Timothy J. Moss, Daniel M. de Laughter, Connie R. Bezzina, Zeev Perles, Fleur V.Y. Tjong, Matthew Ambrose, Forrest Z. Bowling, Arend D. J. ten Harkel, Katelijne Bouman, Barry Wolf, Monia Magliozzi, Asaf Ta-Shma, Lenka Piherová, Aho Ilgun, Sabrina C. Burn, Orly Elpeleg, Michael A. Frohman, Alex V. Postma, Maurice J.B. van den Hoff, Christian M. Salazar, Johanna C. Herkert, Christine Francannet, Jennifer Jacober, Andreas Rousounides, Leander Beekman, Barbara J.M. Mulder, Viktor Tomek, Bruel Ange-Line, Aphrodite Aristidou-Kallika, S. A. Clur, Gwendolyn T. R. Manten
Publikováno v:
CLIN Journal, 131(5):142148. AMER SOC CLINICAL INVESTIGATION INC
Journal of clinical investigation, 131(5):e142148. The American Society for Clinical Investigation
J Clin Invest
Journal of Clinical Investigation, 131(5). AMER SOC CLINICAL INVESTIGATION INC
Journal of clinical investigation, 131(5):e142148. The American Society for Clinical Investigation
J Clin Invest
Journal of Clinical Investigation, 131(5). AMER SOC CLINICAL INVESTIGATION INC
Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a search in GeneMatcher, we identified 30 patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ef92ee7a5ecfb1bc070dbd1d6f217fa
https://hdl.handle.net/1887/3213006
https://hdl.handle.net/1887/3213006
Autor:
Petr Hude, Jan Krejčí, Anna Chaloupka, Iva Svobodová, Július Godava, Vita Zampachova, Lenka Piherová, Milos Kubanek, Hana Poloczková, Lenka Špinarová, Eva Ozábalová
Publikováno v:
European Heart Journal. 41
Background The aetiology of recent-onset dilated cardiomyopathy (RODCM) includes inflammatory, genetic, toxic and metabolic causes. Delineating the role of inflammation on the genetic background could improve risk stratification. Purpose We aimed to