Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I
Rotthier, Annelies, Auer-Grumbach, Michaela, Janssens, Katrien, Baets, Jonathan, Penno, Anke, Almeida-Souza, Leonardo, Van Hoof, Kim, Jacobs, An, De Vriendt, Els, Schlotter-Weigel, Beate, Löscher, Wolfgang, Vondráček, Petr, Seeman, Pavel, De Jonghe, Peter, Van Dijck, Patrick, Jordanova, Albena, Hornemann, Thorsten, Timmerman, Vincent
Published in American journal of human genetics (08.10.2010)
Published in American journal of human genetics (08.10.2010)
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CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel
Skálová, Daniela, Zídková, Jana, Voháňka, Stanislav, Mazanec, Radim, Mušová, Zuzana, Vondráček, Petr, Mrázová, Lenka, Kraus, Josef, Réblová, Kamila, Fajkusová, Lenka
Published in PloS one (11.12.2013)
Published in PloS one (11.12.2013)
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First dedicated observations of runaway electrons in the COMPASS tokamak
Vlainić, Miloš, Mlynář, Jan, Weinzettl, Vladímir, Papřok, Richard, Imríšek, Martin, Ficker, Ondřej, Vondráček, Petr, Havlíček, Josef
Published in Nukleonika (01.06.2015)
Published in Nukleonika (01.06.2015)
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Journal Article
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy
Zapletalová, Eva, Hedvičáková, Petra, Kozák, Libor, Vondráček, Petr, Gaillyová, Renata, Mařı´ková, Tat’ána, Kalina, Zdeněk, Jüttnerová, Věra, Fajkus, Jiřı, Fajkusová, Lenka
Published in Neuromuscular disorders : NMD (01.06.2007)
Published in Neuromuscular disorders : NMD (01.06.2007)
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Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients
Hermanová, Markéta, Zapletalová, Eva, Sedláčková, Jana, Chrobáková, Táňa, Letocha, Ondřej, Kroupová, Iva, Zámečník, Josef, Vondráček, Petr, Mazanec, Radim, Maříková, Taťána, Voháňka, Stanislav, Fajkusová, Lenka
Published in Muscle & nerve (01.03.2006)
Published in Muscle & nerve (01.03.2006)
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Papillary fibroelastoma originating from the free left ventricular wall as the cause of recurrent stroke: Description of the case and literature review
Macura, Ondřej, Paleček, Tomáš, Hlubocký, Jaroslav, Vondráček, Petr, Vítková, Ivana, Kuchař, Jan, Hlubocká, Zuzana
Published in Cor et vasa (English ed.) (01.10.2016)
Published in Cor et vasa (English ed.) (01.10.2016)
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Point mutations in Czech DMD/BMD patients and their phenotypic outcome
Sedláčková, Jana, Vondráček, Petr, Hermanová, Markéta, Zámečník, Josef, Hrubá, Zuzana, Haberlová, Jana, Kraus, Josef, Maříková, Tat’ána, Hedvičáková, Petra, Voháňka, Stanislav, Fajkusová, Lenka
Published in Neuromuscular disorders : NMD (01.11.2009)
Published in Neuromuscular disorders : NMD (01.11.2009)
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Quantitative analysis of CAPN3 transcripts in LGMD2A patients: Involvement of nonsense-mediated mRNA decay
Stehlíková, Kristýna, Zapletalová, Eva, Sedláčková, Jana, Hermanová, Markéta, Vondráček, Petr, Maříková, Tat’ána, Mazanec, Radim, Zámečník, Josef, Voháňka, Stanislav, Fajkus, Jiří, Fajkusová, Lenka
Published in Neuromuscular disorders : NMD (01.02.2007)
Published in Neuromuscular disorders : NMD (01.02.2007)
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Journal Article
Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome
Chrobáková, Táňa, Hermanová, Markéta, Kroupová, Iva, Vondráček, Petr, Mařı́ková, Tat'ána, Mazanec, Radim, Zámečnı́k, Josef, Staněk, Jan, Havlová, Miluše, Fajkusová, Lenka
Published in Neuromuscular disorders : NMD (01.10.2004)
Published in Neuromuscular disorders : NMD (01.10.2004)
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First simultaneous measurements of Reynolds stress with ball-pen and Langmuir probes
Grover, Ondrej, Adamek, Jiri, Seidl, Jakub, Devitre, Alexis, Sos, Miroslav, Vondracek, Petr, Bilkova, Petra, Hron, Martin
Published in Review of scientific instruments (01.06.2017)
Published in Review of scientific instruments (01.06.2017)
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Journal Article
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
CIRAK, Sebahattin, REGHAN FOLEY, Aileen, ROPER, Helen, LONGMAN, Cheryl, KORINTHENBERG, Rudolf, MARROSU, Gianni, NÜRNBERG, Peter, MICHELE, Daniel E, PLAGNOL, Vincent, HURLES, Matt, MOORE, Steven A, SEWRY, Caroline A, HERRMANN, Ralf, CAMPBELL, Kevin P, VOIT, Thomas, MUNTONI, Francesco, WILLER, Tobias, YAU, Shu, STEVENS, Elizabeth, TORELLI, Silvia, BRODD, Lina, KAMYNINA, Alisa, VONDRACEK, Petr
Published in Brain (London, England : 1878) (2013)
Published in Brain (London, England : 1878) (2013)
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Journal Article
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
Stehlíková, Kristýna, Skálová, Daniela, Zídková, Jana, Mrázová, Lenka, Vondráček, Petr, Mazanec, Radim, Voháňka, Stanislav, Haberlová, Jana, Hermanová, Markéta, Zámečník, Josef, Souček, Ondřej, Ošlejšková, Hana, Dvořáčková, Nina, Solařová, Pavla, Fajkusová, Lenka
Published in BMC neurology (19.08.2014)
Published in BMC neurology (19.08.2014)
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Journal Article
Generation of two Duchenne muscular dystrophy patient-specific induced pluripotent stem cell lines DMD02 and DMD03 (MUNIi001-A and MUNIi003-A)
Jelinkova, Sarka, Markova, Lenka, Pesl, Martin, Valáškova, Iveta, Makaturová, Eva, Jurikova, Lenka, Vondracek, Petr, Lacampagne, Alain, Dvorak, Petr, Meli, Albano C., Rotrekl, Vladimir
Published in Stem cell research (01.10.2019)
Published in Stem cell research (01.10.2019)
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Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative registry approach
Brabec, Petr, Vondráček, Petr, Klimeš, Daniel, Baumeister, Sarah, Lochmüller, Hanns, Pavlík, Tomáš, Gregor, Jakub
Published in Neuromuscular disorders : NMD (01.04.2009)
Published in Neuromuscular disorders : NMD (01.04.2009)
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COMPARISON BETWEEN 2D TURBULENCE MODEL ESEL AND EXPERIMENTAL DATA FROM AUG AND COMPASS TOKAMAKS
Ondac, Peter, Horacek, Jan, Seidl, Jakub, Vondrácek, Petr, Müller, Hans Werner, Adámek, Jirí, Nielsen, Anders Henry
Published in Acta polytechnica (Prague, Czech Republic : 1992) (01.01.2015)
Published in Acta polytechnica (Prague, Czech Republic : 1992) (01.01.2015)
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European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences
Vry, Julia, Gramsch, Kathrin, Rodger, Sunil, Thompson, Rachel, Steffensen, Birgit F., Rahbek, Jes, Doerken, Sam, Tassoni, Adrian, Beytía, María de los Angeles, Guergueltcheva, Velina, Chamova, Teodora, Tournev, Ivailo, Kostera-Pruszczyk, Anna, Kaminska, Anna, Lusakowska, Anna, Mrazova, Lenka, Pavlovska, Lenka, Strenkova, Jana, Vondráček, Petr, Garami, Marta, Karcagi, Veronika, Herczegfalvi, Ágnes, Bushby, Katherine, Lochmüller, Hanns, Kirschner, Janbernd
Published in Journal of neuromuscular diseases (29.11.2016)
Published in Journal of neuromuscular diseases (29.11.2016)
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Journal Article
COMPASS-U Global Heat Balance Calculations
Zhang, Han, Titus, Peter, Peterka, Matej, Barton, Petr, Vondracek, Petr
Published in IEEE transactions on plasma science (01.03.2023)
Published in IEEE transactions on plasma science (01.03.2023)
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