Rezultati - J Zeman
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Genetic defects of cytochrome c oxidase assembly od Petr Pecina, H Houst'ková, J Zeman, J Houštěk
Izdano 2004Artigo -
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YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation od Lukáš Stibůrek, Jana Cesnekova, Olga Kostková, Daniela Fornůsková, Kamila Vinšová, László Wenchich, J Houštěk, J Zeman
Izdano 2012Artigo -
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Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy od J. E. Wraith, Maurizio Scarpa, Michael Beck, Olaf A. Bodamer, Linda De Meırleır, Nathalie Guffon, Allan M. Lund, Gunilla Malm, Ans T. van der Ploeg, J Zeman
Izdano 2007Revisão -
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Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency od Marek Böhm, Ewa Pronicka, Elżbieta Karczmarewicz, Maciej Pronicki, Dorota Piekutowska‐Abramczuk, Jolanta Sykut‐Cegielska, Hanna Mierzewska, Hana Hansı́ková, Kateřina Veselá, Markéta Tesařová, H Houst'ková, J Houštěk, J Zeman
Izdano 2005Artigo -
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Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation od Tomáš Honzík, Markéta Tesařová, Johannes A. Mayr, Hana Hansíková, Pavel Ješina, Olaf A. Bodamer, Johannes Koch, Martin Magner, Peter Freisinger, Martina Huemer, Olga Kostková, Rudy Van Coster, Stanislav Kmoch, J Houštěk, Wolfgang Sperl, J Zeman
Izdano 2010Artigo -
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Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation od Eon Joo Park, Kariona A. Grabińska, Ziqiang Guan, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Veronika Barešová, Jana Sovová, Levente József, Nina Ondrušková, Hana Hansíková, Tomáš Honzík, J Zeman, Helena Hůlková, Rong Wen, Stanislav Kmoch, William C. Sessa
Izdano 2014Artigo -
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Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure od Minke H. de Ru, Q. Teunissen, Johanna H. van der Lee, Michael Beck, Olaf A. Bodamer, Lorne A. Clarke, Carla E. M. Hollak, Shuan-Pei Lin, M. Rojas, Gregory M. Pastores, Julian Raiman, Maurizio Scarpa, Eileen P. Treacy, Anna Tylki‐Szymańska, J. E. Wraith, J Zeman, Frits A. Wijburg
Izdano 2012Artigo -
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Mutations in ANTXR1 Cause GAPO Syndrome od Viktor Stránecký, Alexander Hoischen, Hana Hartmannová, Maha S. Zaki, Amit Chaudhary, Enrique Zudaire, Lenka Nosková, Veronika Barešová, Anna Přistoupilová, Kateřina Hodaňová, Jana Sovová, Helena Hůlková, Lenka Piherová, Jayne Y. Hehir‐Kwa, Deepthi De Silva, Manouri P Senanayake, Sameh Farrag, J Zeman, Pavel Martásek, A Baxová, Hanan H. Afifi, Brad St. Croix, Han G. Brunner, Samia A. Temtamy, Stanislav Kmoch
Izdano 2013Artigo -
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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing od Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch, Thomas Wieland, Arcangela Iuso, Matteo Gorza, Valentina Strecker, Elisabeth Graf, Johannes A. Mayr, Ulrike Herberg, Julia B. Hennermann, Thomas Klopstock, Klaus A. Kuhn, Uwe Ahting, Wolfgang Sperl, Ekkehard Wilichowski, Georg F. Hoffmann, Markéta Tesařová, Hana Hansíková, J Zeman, Barbara Plecko, Massimo Zeviani, Ilka Wittig, Tim M. Strom, Markus Schuelke, Peter Freisinger, Thomas Meitinger, Holger Prokisch
Izdano 2012Artigo -
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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease od Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck, Olaf A. Bodamer, Iain Bruce, Linda De Meırleır, Nathalie Guffon, Encarna Guillén‐Navarro, Pauline Hensman, Simon Jones, Wolfgang Kamin, Christoph Kampmann, Christina Lampe, Christine Lavery, Elisa Leão Teles, Bianca Link, Allan M. Lund, Gunilla Malm, Susanne Pitz, Michael Rothera, Catherine Stewart, Anna Tylki‐Szymańska, Ans van der Ploeg, Robert Walker, J Zeman, J. E. Wraith
Izdano 2011Artigo -
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Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) od Martin Hřebı́ček, Lenka Mrázová, Volkan Seyrantepe, Stéphanie Durand, Nicole M. Roslin, Lenka Nosková, Hana Hartmannová, Robert Ivánek, Alena Čížková, Helena Poupětová, Jakub Sikora, Jana Uřinovská, Viktor Stránecký, J Zeman, Pierre Lepage, David Roquis, Andrei Verner, Jérôme Ausseil, Clare Beesley, Irène Maire, Ben J. H. M. Poorthuis, Jiddeke van de Kamp, Otto P. van Diggelen, Ron A. Wevers, Thomas J. Hudson, Takuya Fujiwara, Jacek Majewski, Kenneth Morgan, Stanislav Kmoch, Alexey V. Pshezhetsky
Izdano 2006Artigo
Iskalna orodja:
Sorodne teme
Biology
Gene
Genetics
Medicine
Internal medicine
Biochemistry
Mutation
Cell biology
Enzyme
Mitochondrion
Molecular biology
Cytochrome c oxidase
Disease
Mucopolysaccharidosis
Allele
Chemistry
Enzyme replacement therapy
Pediatrics
Protein subunit
Respiratory chain
Computational biology
Electron Transport Complex IV
Endocrinology
Gastroenterology
Genotype
Human genetics
In silico
Intensive care medicine
Leigh disease
Missense mutation