Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jiri Gurka"'
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:
Michal Schmalz, Hana Vankova, Silvie Rajnochova-Bloudickova, Petra Hruba, Martina Fialova, Jiri Gurka, Maria Magicova, Ilja Striz, Ivan Zahradka, Ondrej Viklicky
Publikováno v:
International Urology and Nephrology.
Purpose Advanced age is associated with an impaired humoral immune response to SARS-CoV-2 mRNA vaccination in kidney transplant recipients (KTR). The mechanisms are, however, poorly understood. Frailty syndrome assessment may determine the most vulne
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:
Maria Magicova, Ivan Zahradka, Martina Fialova, Tomas Neskudla, Jiri Gurka, Istvan Modos, Michal Hojny, Petr Raska, Petr Smejkal, Ilja Striz, Ondrej Viklicky
Publikováno v:
Transplantation. 106(4)
Immune response to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination has been recently shown to be impaired in kidney transplant recipients (KTRs), but the underlying factors affecting vaccine effectiveness need to be further e
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:
Filip, Majer, Bohdan, Kousal, Petr, Dusek, Lenka, Piherova, Martin, Reboun, Romana, Mihalova, Jiri, Gurka, Alice, Krebsova, Hana, Vlaskova, Lenka, Dvorakova, Jana, Krihova, Petra, Liskova, Stanislav, Kmoch, Tomas, Kalina, Milos, Kubanek, Jakub, Sikora
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(1)
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:
M. Hrebicek, Dita Musalkova, Tomas Honzik, Milan Jirsa, Magdalena Neroldova, Lenka Dvorakova, Jakub Krijt, Jiri Zeman, Jiri Gurka, Eva Sticova, Martin Reboun, Jitka Honzikova, Jitka Sokolová
Publikováno v:
Virchows Archiv : an international journal of pathology. 472(6)
Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder that causes recurrent and life-threatening episodes of hyperammonemia. The clinical picture in heterozygous females is highly diverse and derives from the genotype and the degree of