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Ablation for long QT syndrome: local or global repolarization effects?

Europace (London, England), 2023-07, Vol.25 (7)

2023

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Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

International journal of molecular sciences, 2021-07, Vol.22 (13), p.7111

2021

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PRKAG2 syndrome as a highly arrhythmogenic eventuality in the differential diagnosis of hypertrophic cardiomyopathy - an example of two families with a confirmed causative DNA variant

Cor et vasa (English ed.), 2023-06, Vol.65 (3), p.538-544

2023

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Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants

Human mutation, 2022-12, Vol.43 (12), p.1824-1828

2022

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Association of Human Aging with a Functional Variant of Klotho

Proceedings of the National Academy of Sciences - PNAS, 2002-01, Vol.99 (2), p.856-861

2002

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Inflammatory response after ExoVasc® personalized external aortic root support (PEARS) procedure in patients with Marfan syndrome or non-Marfan genetic aortopathy

Cor et vasa (English ed.), 2021-08, Vol.63 (4), p.435-440

2021

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Fukutinopathy as a rare cause of dilated cardiomyopathy and subclinical skeletal myopathy - a case report and review of cardiac involvement in skeletal muscle disease

Cor et vasa (English ed.), 2022-09, Vol.64 (4), p.468-473

2022

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Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction

Journal of clinical medicine, 2020-03, Vol.9 (4), p.937

2020

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Czech Association for Preventive Cardiology Expert Consensus Statement on the State of Genetic Testing for Inherited Cardiovascular Diseases

Cor et vasa (English ed.), 2023-10, Vol.65 (5), p.798-805

2023

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Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study

ESC Heart Failure, 2020-10, Vol.7 (5), p.2534-2543

2020

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Diagnosis of laminopathy with predominant cardiac involvement during pretransplant assessment - a case report with a review of risk stratification and disease management of laminopathies

Cor et vasa (English ed.), 2022-02, Vol.64 (1), p.67-71

2022

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Outcomes of personalised external aortic root support implantation in 100 patients in the Czech Republic

Cor et vasa (English ed.), 2022-12, Vol.64 (6), p.579-583

2022

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Outcomes of pregnancy in pre-existing cardiomyopathy and after heart transplantation

Cor et vasa (English ed.), 2022-09, Vol.64 (4), p.381-389

2022

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Complex approach towards patients with hypertrophic cardiomyopathy and indications to genetic testing

Cor et vasa (English ed.), 2020-07, Vol.62 (3), p.272-278

2020

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Abstract 13730: Genotype-Phenotype Correlates in Recent-Onset Dilated Cardiomyopathy and Their Prognostic Implications

Circulation (New York, N.Y.), 2022-11, Vol.146 (Suppl_1)

2022

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Influence of concomitant heparin administration on pregnancy-associated plasma protein-A levels in acute coronary syndrome with ST segment elevation

Archives of medical science, 2011-12, Vol.7 (6), p.977-983

2011

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Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

Acta ophthalmologica (Oxford, England), 2021-02, Vol.99 (1), p.61-68

2021

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Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.219-223

2020

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LAMP2 exon‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2430-2434

2018

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Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy

ESC Heart Failure, 2024-08

2024

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Sudden cardiac death and its prevention

Medicína pro praxi, 2023-12, Vol.20 (5), p.269-273

2023

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Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13

Nature genetics, 1999-06, Vol.22 (2), p.128-129

1999

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Ablation for long QT syndrome: local or global repolarization effects?

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

PRKAG2 syndrome as a highly arrhythmogenic eventuality in the differential diagnosis of hypertrophic cardiomyopathy - an example of two families with a confirmed causative DNA variant

Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants

Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study

Association of Human Aging with a Functional Variant of Klotho

Inflammatory response after ExoVasc® personalized external aortic root support (PEARS) procedure in patients with Marfan syndrome or non-Marfan genetic aortopathy

Fukutinopathy as a rare cause of dilated cardiomyopathy and subclinical skeletal myopathy - a case report and review of cardiac involvement in skeletal muscle disease

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction

Czech Association for Preventive Cardiology Expert Consensus Statement on the State of Genetic Testing for Inherited Cardiovascular Diseases

Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study

Diagnosis of laminopathy with predominant cardiac involvement during pretransplant assessment - a case report with a review of risk stratification and disease management of laminopathies

Outcomes of personalised external aortic root support implantation in 100 patients in the Czech Republic

Outcomes of pregnancy in pre-existing cardiomyopathy and after heart transplantation

Complex approach towards patients with hypertrophic cardiomyopathy and indications to genetic testing

Postmortem genetic testing in sudden cardiac death victims and genetic screening of relatives at risk in the Czech Republic

Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/ de novo alleles and relevance for related/derived populations

Abstract 13730: Genotype-Phenotype Correlates in Recent-Onset Dilated Cardiomyopathy and Their Prognostic Implications

Influence of concomitant heparin administration on pregnancy-associated plasma protein-A levels in acute coronary syndrome with ST segment elevation

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient

LAMP2 exon‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy

Sudden cardiac death and its prevention

Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13

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