Global DNA methylation in rats´ liver is not affected by hypercholesterolemic diet
Jurcikova-Novotna, L, Mrazova, L, Mičová, K, Friedecký, D, Hubacek, J A, Poledne, R
Published in Physiological research (30.04.2020)
Published in Physiological research (30.04.2020)
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Triple trouble – DMD, autism, epilepsy
Mrazova, L, Jurikova, Z, Danhofer, P, Pejcochova, J, Vondracek, P, Zamecnik, J, Honzik, T, Oslejskova, H
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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G.P.250
Vohanka, S, Parmova, O, Mazanec, R, Vondracek, P, Mrazova, L, Haberlova, J, Brazdilova, M, Strenkova, J, Brabec, P
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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G.P.44 Spectrum of mutations identified in the cohort of Czech LGMD patients
Hermanova, M, Stehlikova, K, Vondracek, P, Mrazova, L, Vohanka, S, Fajkusova, L
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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S.P.47 CARE-NMD: Evaluation and implementation of relevant health related QoL instruments in Duchenne muscular dystrophy
Rahbek, J, Højberg, A, Mahoney, A, Steffensen, B, Rodger, S, Bushby, K, Lochmüller, H, Gramsch, K, Vry, J, Kirschner, J, Antonova, V, Brabek, P, Guergueltcheva, V, Karcagi, V, Herczegfalvi, A, Kostera-Pruszczyk, A, Wasylyszyn, A, Lusakowska, A, Catlin, N, Stringer, S, Mrázová, L, Vondráèek, P
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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G.P.24 Congenital muscular dystrophy with epidermolysis bullosa: A case report
Mrazova, L, Vondracek, P, Buckova, H, Fajkusova, L, Hermanova, M, Vesely, K, Muchova, M, Oslejskova, H
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic
Stehlíková, K., Skálová, D., Zídková, J., Haberlová, J., Voháňka, S., Mazanec, R., Mrázová, L., Vondráček, P., Ošlejšková, H., Zámečník, J., Honzík, T., Zeman, J., Magner, M., Šišková, D., Langová, M., Gregor, V., Godava, M., Smolka, V., Fajkusová, L.
Published in Clinical genetics (01.03.2017)
Published in Clinical genetics (01.03.2017)
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Two novel mutations in mitochondrial acetoacetyl‐CoA thiolase deficiency
Mrázová, L., Fukao, T., Hálovd, K., Gregová, E., Kohút, V., Přibyl, D., Chrastina, P., Kondo, N., Pospišilová, E.
Published in Journal of inherited metabolic disease (01.01.2005)
Published in Journal of inherited metabolic disease (01.01.2005)
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Analysis of the β-Glucocerebrosidase Gene in Czech and Slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles
Hodaňová, Kateřina, Hřebı́ček, Martin, Červenková, Markéta, Mrázová, Lenka, Vepřeková, Lenka, Zeman, Jiřı́
Published in Blood cells, molecules, & diseases (01.10.1999)
Published in Blood cells, molecules, & diseases (01.10.1999)
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P3330Cardiac magnetic resonance including T1 mapping in patients with Duchenne and Becker muscular dystrophy
Panovsky, R., Pesl, M., Feitova, V., Holecek, T., Mrazova, L., Haberlova, J., Vit, P., Stara, V., Machal, J., Novotny, P., Kincl, V.
Published in European heart journal (01.08.2017)
Published in European heart journal (01.08.2017)
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DATABASES, REGISTRIES AND BIOMARKERS - POSTER PRESENTATIONS S.P.30 CARE-NMD: The role of patient registries in an international study of care in Duchenne muscular dystrophy
Rodger, S, Antonova, V, Brabec, P, Catlin, N, Garami, M, Gramsch, K, Guergueltcheva, V, Herczegfalvi, A, Kaminska, A, Karcagi, V, Kostera-Pruszczyk, A, Lusakowska, A, Mahoney, A, Mrázová, L, Pavlovská, L, Rahbek, J, Steffensen, B, Stringer, A, Tournev, I, Vondráček, P, Vry, J, Wasylyszyn, A, Kirschner, J, Bushby, K, Lochmüller, H
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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S.P.59 Current care practice in Duchenne Muscular Dystrophy in Europe – results of the CARE-NMD cross-sectional survey
Vry, J, Gramsch, K, Rodger, S, Antonova, V, Brabec, P, Catlin, N, Garami, M, Guergueltcheva, V, Herczegfalvi, A, Kaminska, A, Karcagi, V, Kostera-Pruszczyk, A, Lusakowska, A, Mahoney, A, Mrázová, L, Pavlovská, L, Rahbek, J, Steffensen, B, Stringer, S, Tournev, I, Vondracek, P, Wasylyszyn, A, Bushby, K, Lochmüller, H, Kirschner, J
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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G.P.197 - Triple trouble – DMD, autism, epilepsy
Mrazova, L., Jurikova, Z., Danhofer, P., Pejcochova, J., Vondracek, P., Zamecnik, J., Honzik, T., Oslejskova, H.
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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G.P.250: Czech national registries of hereditary neuromuscular disorders
Vohanka, S., Parmova, O., Mazanec, R., Vondracek, P., Mrazova, L., Haberlova, J., Brazdilova, M., Strenkova, J., Brabec, P.
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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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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Biochemical and molecular analyses in three patients with 3‐hydroxy‐3‐methylglutaric aciduria
Pospíšilová, E., Mrázová, L., Hrdá, J., Martincová, O., Zeman, J.
Published in Journal of inherited metabolic disease (01.01.2003)
Published in Journal of inherited metabolic disease (01.01.2003)
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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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Nutrigenomics analyze of expression of extracellular leptin receptor by the following essential oil monitoring at the avian models
Mrázová, Ľ., Slovak University of Agriculture in Nitra (Slovak Republic), Židek, R, Angelovičová, M, Tkáčová, J, Kliment, M, Král, M, Bajzík, P
Published in Potravinarstvo (01.04.2011)
Published in Potravinarstvo (01.04.2011)
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