Search Results - "Mrazova, L"

Global DNA methylation in rats´ liver is not affected by hypercholesterolemic diet by Jurcikova-Novotna, L, Mrazova, L, Mičová, K, Friedecký, D, Hubacek, J A, Poledne, R

“…Increased plasma cholesterol levels are listed between the major atherosclerosis risk factors. The final plasma cholesterol levels result from the interplay…”
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Triple trouble – DMD, autism, epilepsy by Mrazova, L, Jurikova, Z, Danhofer, P, Pejcochova, J, Vondracek, P, Zamecnik, J, Honzik, T, Oslejskova, H

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G.P.250 by Vohanka, S, Parmova, O, Mazanec, R, Vondracek, P, Mrazova, L, Haberlova, J, Brazdilova, M, Strenkova, J, Brabec, P

“…The patient registries belong to the core activities which can help us in planning of the effective health care, assessing standards of diagnosis and care, and…”
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G.P.44 Spectrum of mutations identified in the cohort of Czech LGMD patients by Hermanova, M, Stehlikova, K, Vondracek, P, Mrazova, L, Vohanka, S, Fajkusova, L

“…Abstract Limb girdle muscular dystrophies (LGMDs) represent a group of clinically and genetically heterogeneous disorders predominantly affecting shoulder and…”
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S.P.47 CARE-NMD: Evaluation and implementation of relevant health related QoL instruments in Duchenne muscular dystrophy by 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

“…Abstract CARE-NMD aims to disseminate and implement best-practice standards of care for Duchenne muscular dystrophy (DMD) in Europe. As part of the project a…”
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G.P.24 Congenital muscular dystrophy with epidermolysis bullosa: A case report by Mrazova, L, Vondracek, P, Buckova, H, Fajkusova, L, Hermanova, M, Vesely, K, Muchova, M, Oslejskova, H

“…Abstract Congenital muscular dystrophy (CMD) associated with familial junctional epidermolysis bullosa is a rare autosomal recessive disorder caused by…”
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Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic by 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.

“…Inherited neuromuscular disorder (NMD) is a wide term covering different genetic disorders affecting muscles, nerves, and neuromuscular junctions. Genetic and…”
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Two novel mutations in mitochondrial acetoacetyl‐CoA thiolase deficiency by Mrázová, L., Fukao, T., Hálovd, K., Gregová, E., Kohút, V., Přibyl, D., Chrastina, P., Kondo, N., Pospišilová, E.

“…Summary We report a new patient with acetoacetyl‐CoA thiolase deficiency in whom we found two new missense mutations…”
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Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes by Matej, R, Dvoráková, L, Mrázová, L, Houst'ková, H, Elleder, M

“…We report the first case of Alexander disease diagnosed and published in the region of former Czechoslovakia. The case was characterized by early (late…”
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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 by Hodaňová, Kateřina, Hřebı́ček, Martin, Červenková, Markéta, Mrázová, Lenka, Vepřeková, Lenka, Zeman, Jiřı́

“…The aim of this study was to characterize the spectrum of β-glucocerebrosidase gene mutations in Czech and Slovak Gaucher patients and to study…”
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P603Quantitative assessment of left ventricular function and deformation in Duchenne and Becker muscular dystrophy patients by Panovsky, R, Pesl, M, Machal, J, Holecek, T, Feitova, V, Mrazova, L, Masarova, L, Kincl, V, Peslova, E

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P3330Cardiac magnetic resonance including T1 mapping in patients with Duchenne and Becker muscular dystrophy by Panovsky, R., Pesl, M., Feitova, V., Holecek, T., Mrazova, L., Haberlova, J., Vit, P., Stara, V., Machal, J., Novotny, P., Kincl, V.

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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 by 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

“…Abstract CARE-NMD aims to disseminate and implement best-practice standards of care for Duchenne muscular dystrophy (DMD) in Europe. Patient registries offer a…”
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S.P.59 Current care practice in Duchenne Muscular Dystrophy in Europe – results of the CARE-NMD cross-sectional survey by 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

“…Abstract CARE-NMD is an EU-funded project to improve care for patients with Durchenne Muscular Dystrophy (DMD). The analysis of the current care practice is…”
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G.P.197 - Triple trouble – DMD, autism, epilepsy by Mrazova, L., Jurikova, Z., Danhofer, P., Pejcochova, J., Vondracek, P., Zamecnik, J., Honzik, T., Oslejskova, H.

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G.P.250: Czech national registries of hereditary neuromuscular disorders by Vohanka, S., Parmova, O., Mazanec, R., Vondracek, P., Mrazova, L., Haberlova, J., Brazdilova, M., Strenkova, J., Brabec, P.

“…The patient registries belong to the core activities which can help us in planning of the effective health care, assessing standards of diagnosis and care, and…”
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Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) by 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.

“…Mucopolysaccharidosis IIIC (MPS IIIC, or Sanfilippo C syndrome) is a lysosomal storage disorder caused by the inherited deficiency of the lysosomal membrane…”
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Biochemical and molecular analyses in three patients with 3‐hydroxy‐3‐methylglutaric aciduria by Pospíšilová, E., Mrázová, L., Hrdá, J., Martincová, O., Zeman, J.

“…Two methods, spectrophotometry and HPLC, were compared in the analyses of 3‐hydroxy‐3‐methylglutaryl‐CoA lyase (HL) activity in three unrelated Czech patients…”
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Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes by 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

“…X-linked agammaglobulinemia (XLA) is characterized by low levels of B-lymphocytes with early-onset, recurrent, microbial infections occasionally causing…”
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Evaluation of the work quality of the sugar beet planter in relation to the sugar beet seed parameters by Findura, P., Nozdrovický, L., Tóth, P., Mrázová, Ľ.

“…: Due to the restructuring of the Slovak agriculture managed by the Common agricultural policy of the European union, the acreage under sugar beet has been…”
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