Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Jana Zidkova"'
Autor:
Samuel Lietava, Milan Sepsi, Jana Zidkova, Iva Synkova, Milan Kozak, Lubomir Krivan, Jitka Vlasinova, Svatopluk Richter, Jan Rehor, Petr Kala, Marketa Bebarova, Tomas Novotny
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-8 (2024)
Abstract Traditionally, aborted cardiac arrest (ACA) due to documented ventricular fibrillation (VF) in the absence of structural heart disease has been termed idiopathic VF. By careful evaluation, a specific etiology can be found in a substantial pr
Externí odkaz:
https://doaj.org/article/dee66629a0ec44f787a7e8cc05de5805
Autor:
Canan Celiker, Stefan Zelenak, Samuel Lietava, Jiri Pachernik, Marketa Bebarova, Jana Zidkova, Tomas Novotny, Tomas Barta
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103541- (2024)
Human induced pluripotent stem cell (iPSC) lines were generated from peripheral blood mononuclear cells (PBMCs) isolated from two related patients diagnosed with either idiopathic ventricular fibrillation or catecholaminergic polymorphic ventricular
Externí odkaz:
https://doaj.org/article/77ac4ee2b2ac4b0a95245b0f8e25dc88
Autor:
Martina Farolfi, Anna Cechova, Nina Ondruskova, Jana Zidkova, Bohdan Kousal, Hana Hansikova, Tomas Honzik, Petra Liskova
Publikováno v:
BMC Ophthalmology, Vol 21, Iss 1, Pp 1-7 (2021)
Abstract Background ALG3-CDG is a rare autosomal recessive disease. It is characterized by deficiency of alpha-1,3-mannosyltransferase caused by pathogenic variants in the ALG3 gene. Patients manifest with severe neurologic, cardiac, musculoskeletal
Externí odkaz:
https://doaj.org/article/85d2bf813d3540bd95e68e5c58264161
Autor:
Frantisek Cibulcik, Peter Spalek, Ivan Martinka, Jana Zidkova, Milan Grofik, Stefan Sivak, Egon Kurca
Publikováno v:
Biomedical Papers, Vol 163, Iss 4, Pp 362-365 (2019)
Background: Paramyotonia congenita is a non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. This condition cannot be distinguished on the basis of symptoms and signs alone. It requires consideration o
Externí odkaz:
https://doaj.org/article/86c3034d67154cdd93c1401cd8b76676
Autor:
Ivan Martinka, Milan Grofik, Egon Kurča, Jana Zidkova, Štefan Sivák, František Cibulčík, Peter Špalek
Publikováno v:
Biomedical Papers, Vol 163, Iss 4, Pp 362-365 (2019)
Background: Paramyotonia congenita is a non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. This condition cannot be distinguished on the basis of symptoms and signs alone. It requires consideration o
Autor:
Daniela Skálová, Jana Zídková, Stanislav Voháňka, Radim Mazanec, Zuzana Mušová, Petr Vondráček, Lenka Mrázová, Josef Kraus, Kamila Réblová, Lenka Fajkusová
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e82549 (2013)
Myotonia congenita (MC) is a genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1) encoding the skeletal muscle chloride channel (ClC-1). Mutations of CLCN1 result in either autosomal dominant MC (Thomsen disease) o
Externí odkaz:
https://doaj.org/article/9653d61cf48c46f79d6d9e29cb829433