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Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic

Clinical genetics, 2017-03, Vol.91 (3), p.463-469

2017

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Functional analysis of mutations located in the LDL receptor signal sequence coding region

Atherosclerosis, 2016-09, Vol.252, p.e43-e43

2016

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The molecular basis of familial hypercholesterolemia in the Czech Republic – More homozygotes revealed by DNA testing

Atherosclerosis, 2015-07, Vol.241 (1), p.e114-e114

2015

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G.P.222

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.883-883

2014

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Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic

Physiological research, 2017-01, Vol.66 (Suppl 1), p.S47-S54

2017

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20 years of malignant hyperthermia in Czechia and Slovakia

Anesteziologie & intenzivní medicína, 2023-10, Vol.34 (3), p.103-109

2023

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Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure

British journal of dermatology (1951), 2010-05, Vol.162 (5), p.1004-1013

2010

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Fifteen years of active search for patients with familial hypercholesterolemia in the Czech Republic

Atherosclerosis, 2014-08, Vol.235 (2), p.e197-e197

2014

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P5.12 Congenital myotonia caused by mutations in the chloride channel ClC-1 in the South Moravian Region of Czech Republic

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.727-727

2011

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G.P.44 Spectrum of mutations identified in the cohort of Czech LGMD patients

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.832-832

2012

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G.P.24 Congenital muscular dystrophy with epidermolysis bullosa: A case report

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.829-830

2012

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G.P.99 Molecular genetic diagnostics of myotonia congenita and analysis of the effects of mutations in the CLCN1 gene on the structure of the dimeric ClC1 chloride channel

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.898-898

2012

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P5.13 Spectrum of CLCN1 and SCN4A mutations in Czech patients with non-dystrophic myotonias

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.727-727

2011

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P1.3 Spectrum of point mutations in Czech DMD/BMD patients and their phenotypic outcome

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.642-642

2011

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PO26-TH-08 Myotonic disorders in Czech population

Journal of the neurological sciences, 2009, Vol.285, p.S302-S302

2009

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P1.17 Limb-girdle muscular dystrophies in Czech Republic

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.605-605

2010

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18P Cohort of Czech patients with RYR1-related disorders

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.216

2024

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Autosomal recessive congenital ichthyoses in the Czech Republic

British journal of dermatology (1951), 2016-02, Vol.174 (2), p.405-407

2016

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G.P.14.08 Analysis of the CLCN1 gene in Czech patients with myotonia congenita

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.645-645

2009

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D.P.1.01 Clinical features of facioscapulohumeral muscular dystrophy in Czech population

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.726-726

2008

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G.P.4.10 Analysis of histone modification and expression changes of SMN gene after HDAC inhibitor treatment

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.763-763

2008

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Familial hypercholesterolemia in the Czech Republic: more than 17 years of systematic screening within the MedPed project

Physiological research, 2017-01, Vol.66 (Suppl 1), p.S1-S9

2017

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Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic

British journal of dermatology (1951), 2016-06, Vol.174 (6), p.1388-1391

2016

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G.P.14.03 Quantitative analysis of CAPN3 and DMD transcripts: Involvement of nonsense-mediated mRNA decay

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.816-816

2008

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Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy

European journal of neurology, 2007-10, Vol.14 (10), p.1182-1185

2007

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Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic

Functional analysis of mutations located in the LDL receptor signal sequence coding region

The molecular basis of familial hypercholesterolemia in the Czech Republic – More homozygotes revealed by DNA testing

G.P.222

Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic

20 years of malignant hyperthermia in Czechia and Slovakia

Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure

Fifteen years of active search for patients with familial hypercholesterolemia in the Czech Republic

P5.12 Congenital myotonia caused by mutations in the chloride channel ClC-1 in the South Moravian Region of Czech Republic

G.P.44 Spectrum of mutations identified in the cohort of Czech LGMD patients

G.P.24 Congenital muscular dystrophy with epidermolysis bullosa: A case report

G.P.99 Molecular genetic diagnostics of myotonia congenita and analysis of the effects of mutations in the CLCN1 gene on the structure of the dimeric ClC1 chloride channel

P5.13 Spectrum of CLCN1 and SCN4A mutations in Czech patients with non-dystrophic myotonias

P1.3 Spectrum of point mutations in Czech DMD/BMD patients and their phenotypic outcome

PO26-TH-08 Myotonic disorders in Czech population

P1.17 Limb-girdle muscular dystrophies in Czech Republic

18P Cohort of Czech patients with RYR1-related disorders

Autosomal recessive congenital ichthyoses in the Czech Republic

G.P.14.08 Analysis of the CLCN1 gene in Czech patients with myotonia congenita

D.P.1.01 Clinical features of facioscapulohumeral muscular dystrophy in Czech population

G.P.4.10 Analysis of histone modification and expression changes of SMN gene after HDAC inhibitor treatment

Familial hypercholesterolemia in the Czech Republic: more than 17 years of systematic screening within the MedPed project

Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic

G.P.14.03 Quantitative analysis of CAPN3 and DMD transcripts: Involvement of nonsense-mediated mRNA decay

Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy

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