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Serum Bilirubin in the Czech Population　― Relationship to the Risk of Myocardial Infarction in Males

Circulation Journal, 2020/09/25, Vol.84(10), pp.1779-1785

2020

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A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Kidney international, 2022-02, Vol.101 (2), p.349-359

2022

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Sodium-glucose cotransporter 2 inhibitors induce anti-inflammatory and anti-ferroptotic shift in epicardial adipose tissue of subjects with severe heart failure

Cardiovascular diabetology, 2024-06, Vol.23 (1), p.223-17, Article 223

2024

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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

PloS one, 2013-12, Vol.8 (12), p.e82549-e82549

2013

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Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping

Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.10-10, Article 10

2019

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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

PloS one, 2023-07, Vol.18 (7), p.e0288907-e0288907

2023

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HGSNAT has a TATA-less promoter with multiple starts of transcription

Gene, 2016-10, Vol.592 (1), p.36-42

2016

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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

Molecular genetics and metabolism, 2017-07, Vol.121 (3), p.206-215

2017

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Rare variants in known and novel candidate genes predisposing to statin-associated myopathy

Pharmacogenomics, 2016-08, Vol.17 (13), p.1405-1414

2016

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Loading of cell cultures with cholesterol‐dextran particles as a new functional test for Niemann–Pick type C disease

Journal of inherited metabolic disease, 2022-05, Vol.45 (3), p.584-592

2022

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Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

American journal of human genetics, 2006-11, Vol.79 (5), p.807-819

2006

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Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

BMC neurology, 2014-08, Vol.14 (1), p.154-154, Article 154

2014

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Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT) gene

Human mutation, 2009-06, Vol.30 (6), p.918-925

2009

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Are worksheets death? Words in museum education

Studia universitatis hereditati, 2018-12, Vol.6 (2), p.47-62

Mrázová, Lenka

2018

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Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes

Blood cells, molecules, & diseases, 2011-03, Vol.46 (3), p.239-245

2011

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Malignant catatonia due to anti-NMDA-receptor encephalitis in a 15-year-old girl: case report and summary of current knowledge

Neuropsychiatry, 2016, Vol.6 (4)

2016

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Muzejní profese a veřejnost 2: Reflexe edukačního fenoménu v současné muzejní praxi

2018

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Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes

Journal of clinical immunology, 2007-11, Vol.27 (6), p.640-646

2007

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Serum Bilirubin in the Czech Population　― Relationship to the Risk of Myocardial Infarction in Males

Circulation Journal, 2020/08/26, pp.CJ-20-0192

2020

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Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report

Journal of dermatological case reports, 2016-11, Vol.10 (3), p.39-48

2016

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Global DNA methylation in rats´ liver is not affected by hypercholesterolemic diet

Physiological research, 2020-04, Vol.69 (2), p.347-352

2020

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COQ2 polymorphisms are not associated with increased risk of statin-induced myalgia/myopathy in the Czech population

Drug metabolism and personalized therapy, 2017-12, Vol.32 (4)

2017

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European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

Journal of neuromuscular diseases, 2016-11, Vol.3 (4), p.517-527

2016

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MEZIOBOROVÁ TERÉNNÍ VÝUKA V RÁMCI LETNÍ ŠKOLY GEOCAMP

Biologie. Chemie. Zeměpis, 2024-01, Vol.32 (3), p.2-16

2024

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Remarks on the role of Z. Z. Stránský in conceptual development of the curriculum of Brno museology

Museologica Brunensia, 2016 (2), p.65-73

Mrázová, Lenka

2016

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Serum Bilirubin in the Czech Population　― Relationship to the Risk of Myocardial Infarction in Males

A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Sodium-glucose cotransporter 2 inhibitors induce anti-inflammatory and anti-ferroptotic shift in epicardial adipose tissue of subjects with severe heart failure

CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel

Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

HGSNAT has a TATA-less promoter with multiple starts of transcription

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

Rare variants in known and novel candidate genes predisposing to statin-associated myopathy

Loading of cell cultures with cholesterol‐dextran particles as a new functional test for Niemann–Pick type C disease

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT) gene

Are worksheets death? Words in museum education

Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes

Malignant catatonia due to anti-NMDA-receptor encephalitis in a 15-year-old girl: case report and summary of current knowledge

Muzejní profese a veřejnost 2: Reflexe edukačního fenoménu v současné muzejní praxi

Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes

Serum Bilirubin in the Czech Population　― Relationship to the Risk of Myocardial Infarction in Males

Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report

Global DNA methylation in rats´ liver is not affected by hypercholesterolemic diet

COQ2 polymorphisms are not associated with increased risk of statin-induced myalgia/myopathy in the Czech population

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

MEZIOBOROVÁ TERÉNNÍ VÝUKA V RÁMCI LETNÍ ŠKOLY GEOCAMP

Remarks on the role of Z. Z. Stránský in conceptual development of the curriculum of Brno museology

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