TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
Kaplanová, Vilma, Sperl, Wolfgang, Houšt k, Josef, Paul, Jan, Vrbacký, Marek, Hansíková, Hana, Hejzlarová, Kate ina, Nosková, Lenka, Honzík, Tomáš, Drahota, Zden k, Zeman, Ji í, í ková, Alena, Kmoch, Stanislav, Kuss, Andreas W, Stránecký, Viktor, Mayr, Johannes A, Magner, Martin, Tesa ová, Markéta, Havlí ková, Vendula, Hartmannová, Hana, Ivánek, Robert
Published in Nature genetics (01.11.2008)
Published in Nature genetics (01.11.2008)
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Journal Article
Characteristics of food‐wasting consumers in the Czech Republic
Filipová, Alena, Mokrejšová, Veronika, Šulc, Zdeněk, Zeman, Jiří
Published in International journal of consumer studies (01.11.2017)
Published in International journal of consumer studies (01.11.2017)
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Journal Article
Mutations in ANTXR1 Cause GAPO Syndrome
Stránecký, Viktor, Hoischen, Alexander, Hartmannová, Hana, Zaki, Maha S., Chaudhary, Amit, Zudaire, Enrique, Nosková, Lenka, Barešová, Veronika, Přistoupilová, Anna, Hodaňová, Kateřina, Sovová, Jana, Hůlková, Helena, Piherová, Lenka, Hehir-Kwa, Jayne Y., de Silva, Deepthi, Senanayake, Manouri P., Farrag, Sameh, Zeman, Jiří, Martásek, Pavel, Baxová, Alice, Afifi, Hanan H., St. Croix, Brad, Brunner, Han G., Temtamy, Samia, Kmoch, Stanislav
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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Journal Article
TMEM70 protein — A novel ancillary factor of mammalian ATP synthase
Houštěk, Josef, Kmoch, Stanislav, Zeman, Jiří
Published in Biochimica et biophysica acta (01.05.2009)
Published in Biochimica et biophysica acta (01.05.2009)
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Journal Article
Vascular presentation of cystathionine beta-synthase deficiency in adulthood
Magner, Martin, Krupková, Lucie, Honzík, Tomáš, Zeman, Jiří, Hyánek, Josef, Kožich, Viktor
Published in Journal of inherited metabolic disease (01.02.2011)
Published in Journal of inherited metabolic disease (01.02.2011)
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Journal Article
Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome
Šípek Jr, Antonín, Grodecká, Lucie, Baxová, Alice, Cibulková, Petra, Dvořáková, Magdaléna, Mazurová, Stella, Magner, Martin, Zeman, Jiří, Honzík, Tomáš, Freiberger, Tomáš
Published in American journal of medical genetics. Part A (01.06.2014)
Published in American journal of medical genetics. Part A (01.06.2014)
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Journal Article
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
Honzík, Tomáš, Tesařová, Markéta, Mayr, Johannes A, Hansíková, Hana, Ješina, Pavel, Bodamer, Olaf, Koch, Johannes, Magner, Martin, Freisinger, Peter, Huemer, Martina, Kostková, Olga, van Coster, Rudy, Kmoch, Stanislav, Houštêk, Josef, Sperl, Wolfgang, Zeman, Jiří
Published in Archives of disease in childhood (01.04.2010)
Published in Archives of disease in childhood (01.04.2010)
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Journal Article
Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus—benefit of genetic testing
Hrčková, Gabriela, Jankó, Viktor, Kytnarová, Jitka, Čižmárová, Michaela, Tesařová, Markéta, Košťálová, Ľudmila, Virgová, Daniela, Dallos, Tomáš, Hána, Václav, Lebl, Jan, Zeman, Jiří, Kovács, László
Published in European journal of pediatrics (01.09.2016)
Published in European journal of pediatrics (01.09.2016)
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Journal Article
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
Vondráčková, Alžběta, Veselá, Kateřina, Kratochvílová, Hana, Kučerová Vidrová, Vendula, Vinšová, Kamila, Stránecký, Viktor, Honzík, Tomáš, Hansíková, Hana, Zeman, Jiří, Tesařová, Markéta
Published in European journal of human genetics : EJHG (01.03.2014)
Published in European journal of human genetics : EJHG (01.03.2014)
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Journal Article
Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)
Hřebíček, Martin, Mrázová, Lenka, Seyrantepe, Volkan, Durand, Stéphanie, Roslin, Nicole M., Nosková, Lenka, Hartmannová, Hana, Ivánek, Robert, Čížková, Alena, Poupětová, Helena, Sikora, Jakub, Uřinovská, Jana, Stránecký, Viktor, Zeman, Jiří, Lepage, Pierre, Roquis, David, Verner, Andrei, Ausseil, Jérôme, Beesley, Clare E., Maire, Irène, Poorthuis, Ben J.H.M., van de Kamp, Jiddeke, van Diggelen, Otto P., Wevers, Ron A., Hudson, Thomas J., Fujiwara, T. Mary, Majewski, Jacek, Morgan, Kenneth, Kmoch, Stanislav, Pshezhetsky, Alexey V.
Published in American journal of human genetics (01.11.2006)
Published in American journal of human genetics (01.11.2006)
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Journal Article
Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206
Jesina, Pavel, Tesarová, Markéta, Fornůsková, Daniela, Vojtísková, Alena, Pecina, Petr, Kaplanová, Vilma, Hansíková, Hana, Zeman, Jirí, Houstek, Josef
Published in Biochemical journal (01.11.2004)
Published in Biochemical journal (01.11.2004)
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Journal Article
Elastoplasticity of gradient-polyconvex materials
Kružík, Martin, Zeman, Jiří
Published in Zeitschrift für angewandte Mathematik und Physik (01.10.2021)
Published in Zeitschrift für angewandte Mathematik und Physik (01.10.2021)
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Journal Article
cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression
Zavadáková, Petra, Fowler, Brian, Suormala, Terttu, Novotna, Zorka, Mueller, Peter, Hennermann, Julia B., Zeman, Jiří, Vilaseca, M. Antonia, Vilarinho, Laura, Gutsche, Sven, Wilichowski, Ekkehard, Horneff, Gerd, Kožich, Viktor
Published in Human mutation (01.03.2005)
Published in Human mutation (01.03.2005)
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Journal Article
Mitochondrial diseases and ATPase defects of nuclear origin
Houštěk, Josef, Mráček, Tomáš, Vojtı́šková, Alena, Zeman, Jiřı́
Published in BBA - Bioenergetics (23.07.2004)
Published in BBA - Bioenergetics (23.07.2004)
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Book Review
Journal Article
Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes
Sedivá, Anna, Smith, C I Edvard, Asplund, A Charlotta, Hadac, Jan, Janda, Ales, Zeman, Jirí, Hansíková, Hana, Dvoráková, Lenka, Mrázová, Lenka, Velbri, Sirje, Koehler, Carla, Roesch, Karin, Sullivan, Kathleen E, Futatani, Takeshi, Ochs, Hans D
Published in Journal of clinical immunology (01.11.2007)
Published in Journal of clinical immunology (01.11.2007)
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Journal Article
The effect of different types of lactose monohydrate on the stability of acetylcholinesterase immobilized on carriers designed to detect nerve agents
Zeman, Jiří, Pavloková, Sylvie, Vetchý, David, Pitschmann, Vladimír
Published in Journal of chemical technology and biotechnology (1986) (01.06.2021)
Published in Journal of chemical technology and biotechnology (1986) (01.06.2021)
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Journal Article
Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation
Park, Eon Joo, Grabińska, Kariona A., Guan, Ziqiang, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Sovová, Jana, Jozsef, Levente, Ondrušková, Nina, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Hůlková, Helena, Wen, Rong, Kmoch, Stanislav, Sessa, William C.
Published in Cell metabolism (02.09.2014)
Published in Cell metabolism (02.09.2014)
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