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Alice Krebsova

Institut klinicke a experimentalni mediciny

Czech Republic

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Research Interests

Cardiology

40%

Immunology

10%

Rare Disease

40%

Coronary Artery Disease

30%

Mitochondrial Disease

20%

Aortic Aneurysm

20%

Medical Science

20%

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Articles8

Novel four-exon deletion in ryanodine receptor gene (RYR2) associated with mixed electric and structural cardiac phenotype

Article Link

Year:

2025

Current management of transition and multidisciplinary care of patients with inherited and rare cardiomyopathies in Europe: results of the European Reference Network for rare and low prevalence complex diseases of the heart

Article Link

Year:

2025

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

Article Link

Year:

2023

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

Article Link

Year:

2022

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

Article Link

Year:

2021

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

Article Link

Year:

2021

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

Article Link

Year:

2020

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

Article Link

Year:

2020

Collaborators6

Jakub Sikora

assistant professor

Charles University, First Faculty of Medicine

CZECH REPUBLIC

Dan Wichterle

CZECH REPUBLIC

Bart Loeys

BELGIUM

Jiří Gurka

Charles University

CZECH REPUBLIC

Martin Meliska

Charles University

CZECH REPUBLIC

Petr Peichl

Institut klinicke a experimentalni mediciny

CZECH REPUBLIC

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Alice Krebsova

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Research Interests

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Articles8

Novel four-exon deletion in ryanodine receptor gene (RYR2) associated with mixed electric and structural cardiac phenotype

Current management of transition and multidisciplinary care of patients with inherited and rare cardiomyopathies in Europe: results of the European Reference Network for rare and low prevalence complex diseases of the heart

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

Isolated aneurysmal disease as an underestimated finding in individuals with <i>JAG1</i> pathogenic variants

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

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

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

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

Collaborators6

Jakub Sikora

Dan Wichterle

Bart Loeys

Jiří Gurka

Martin Meliska

Petr Peichl

How do I reach out?