Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Petr Vondráček"'
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
Autor:
Maria de los Angeles Beytía, Anna Lusakowska, Petr Vondráček, Birgit F. Steffensen, Sam Doerken, K. Gramsch, Agnes Herczegfalvi, Hanns Lochmüller, Kate Bushby, Veronika Karcagi, Anna Kostera-Pruszczyk, Marta Garami, Adrian Tassoni, Teodora Chamova, Lenka Mrázová, Lenka Pavlovska, Sunil Rodger, Velina Guergueltcheva, Rachel Thompson, J. Vry, Jes Rahbek, Janbernd Kirschner, Jana Strenková, Ivailo Tournev, Anna Kamińska
Publikováno v:
Journal of Neuromuscular Diseases
Background: Publication of comprehensive clinical care guidelines for Duchenne muscular dystrophy (DMD) in 2010 was a milestone for DMD patient management. Our CARE-NMD survey investigates the neuromuscular, medical, and psychosocial care of DMD pati
Autor:
Martin Pešl, Lenka Jurikova, Eva Makaturová, Vladimír Rotrekl, Iveta Valášková, Petr Dvorak, Lenka Marková, Petr Vondráček, Alain Lacampagne, Šárka Jelínková, Albano C. Meli
Publikováno v:
STEM CELL RESEARCH
Stem Cell Research
Stem Cell Research, 2019, 40, pp.101562. ⟨10.1016/j.scr.2019.101562⟩
Stem Cell Research, Vol 40, Iss, Pp-(2019)
Stem Cell Research, Elsevier, 2019, 40, pp.101562. ⟨10.1016/j.scr.2019.101562⟩
Stem Cell Research
Stem Cell Research, 2019, 40, pp.101562. ⟨10.1016/j.scr.2019.101562⟩
Stem Cell Research, Vol 40, Iss, Pp-(2019)
Stem Cell Research, Elsevier, 2019, 40, pp.101562. ⟨10.1016/j.scr.2019.101562⟩
Duchenne muscular dystrophy (DMD) affects 1:3500–5000 newborn boys and manifests with progressive skeletal muscle wasting, respiratory failure and eventual heart failure. Symptoms show different onset from patients' childhood to the second decade o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4677f5cfcd04a6d413fc8fb02bf40a41
https://is.muni.cz/publication/1579778
https://is.muni.cz/publication/1579778
Autor:
Jan Kuchař, Ondřej Macura, Tomáš Paleček, Zuzana Hlubocká, Ivana Vitkova, Jaroslav Hlubocký, Petr Vondráček
Publikováno v:
Cor et Vasa. 58:e466-e469
Papilarni fibroelastom je třetim nejcastějsim primarnim benignim nadorem srdce, který se typicky nachazi na endokardu chlopni, nejcastěji levostranných. Autoři prezentuji kasuistiku 52leteho nemocneho s opakovanými kardioembolizacnimi přihoda
Publikováno v:
Pediatric Neurology. 50:591-594
BACKGROUND: Spinal muscular atrophy is a rare hereditary neuromuscular disorder (with a prevalence of 1 per 30,000) that greatly debilitates patients and, in most cases, shortens their life expectancy. Although there is no causal therapy, improvement
Autor:
Lina Brodd, Helen Roper, Thomas Voit, Caroline Sewry, Petr Vondráček, Rudolf Korinthenberg, Silvia Torelli, Tobias Willer, Shu Yau, Alisa Kamynina, Vincent Plagnol, G. Marrosu, Steven A. Moore, Elizabeth Stevens, Ralf Herrmann, Peter Nürnberg, Matthew E. Hurles, Daniel E. Michele, Kevin P. Campbell, Cheryl Longman, Francesco Muntoni, Aileen Reghan Foley, Sebahattin Cirak
Publikováno v:
Brain
Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker-Warburg syndrome, to mild forms of adult-onset limb-girdle muscular dy
Autor:
Josef Zamecnik, Radim Mazanec, Tomas Honzik, Stanislav Voháňka, Vratislav Smolka, Petr Vondráček, Martin Magner, Daniela Skálová, Dana Šišková, Hana Ošlejšková, Vladimir Gregor, Lenka Fajkusová, Jiří Zeman, Jana Zídková, Kristýna Stehlíková, Martina Langová, Jana Haberlová, Lenka Mrázová, Marek Godava
Publikováno v:
Clinical genetics. 91(3)
Inherited neuromuscular disorder (NMD) is a wide term covering different genetic disorders affecting muscles, nerves, and neuromuscular junctions. Genetic and clinical heterogeneity is the main drawback in a routine gene-by-gene diagnostics. We prese
Autor:
Dana Šišková, Jana Sabová, Radim Mazanec, Petra Laššuthová, Petr Vondráček, Pavel Seeman, Jana Haberlová
Publikováno v:
Clinical Genetics. 80:334-345
Charcot-Marie-Tooth (CMT) neuropathy type 4C (CMT4C) is an autosomal recessive (AR), demyelinating neuropathy with early spine deformities caused by mutations in the SH3TC2 gene. To determine the spectrum of SH3TC2 mutations in the Czech population,
Autor:
An Jacobs, Michaela Auer-Grumbach, Anke Penno, Annelies Rotthier, Katrien Janssens, Thorsten Hornemann, Peter De Jonghe, Beate Schlotter-Weigel, Kim van Hoof, Vincent Timmerman, Leonardo Almeida-Souza, Wolfgang Löscher, Petr Vondráček, Jonathan Baets, Pavel Seeman, Albena Jordanova, Patrick Van Dijck, Els De Vriendt
Publikováno v:
The American journal of human genetics
Hereditary sensory and autonomic neuropathy type I (HSAN-I) is an axonal peripheral neuropathy associated with progressive distal sensory loss and severe ulcerations. Mutations in the first subunit of the enzyme serine palmitoyltransferase (SPT) have
Autor:
Josef Zamecnik, Tat’ána Maříková, Jana Sedláčková, Lenka Fajkusová, Petr Vondráček, Markéta Hermanová, Josef Kraus, Zuzana Hrubá, Petra Hedvicakova, Jana Haberlová, Stanislav Voháňka
Publikováno v:
Neuromuscular Disorders. 19:749-753
Duchenne and Becker muscular dystrophies (DMD/BMD) are associated with mutations in the DMD gene. We determined the mutation status of 47 patients with dystrophinopathy without deletion or duplication in the DMD gene by screening performed by reverse