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Jakub Sikora

assistant professor

Charles University, First Faculty of Medicine

Czech Republic

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Research Interests

Internal Medicine

30%

Neurology

30%

Rare Disease

70%

Medical Science

40%

Mitochondrial Disease

20%

Next-generation Sequencing

20%

Genomic Instability

20%

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Articles10

A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Article Link

Year:

2022

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

Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient

Article Link

Year:

2021

Easy and fast PCR-based protocol allows characterization of breakpoints resulting from Alu/Alu-mediated genomic rearrangements

Article Link

Year:

2021

Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

Article Link

Year:

2021

NOTCH2NLC CGG repeats are not expanded and skin biopsy was negative in an infantile patient with neuronal intranuclear inclusion 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

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes

Article Link

Year:

2020

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

Article Link

Year:

2020

Collaborators9

Viktor Stranecky

Charles University in Prague

CZECH REPUBLIC

Lenka Noskova

Charles University

CZECH REPUBLIC

Jan Zivny

Charles University in Prague

CZECH REPUBLIC

Jiří Gurka

Charles University

CZECH REPUBLIC

Martin Meliska

Charles University

CZECH REPUBLIC

Agnieszka Łaszkiewicz

Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences

POLAND

Luca Rampoldi

Head of Research Unit

Ospedale San Raffaele

ITALY

Petr Prikryl

Charles University, First Faculty of Medicine

CZECH REPUBLIC

Alice Krebsova

Institut klinicke a experimentalni mediciny

CZECH REPUBLIC

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Jakub Sikora

assistant professor

How do I reach out?

Contact this professor

Research Interests

Ask ApplyKite AI

Articles10

A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

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

Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient

Easy and fast PCR-based protocol allows characterization of breakpoints resulting from Alu/Alu-mediated genomic rearrangements

Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

NOTCH2NLC CGG repeats are not expanded and skin biopsy was negative in an infantile patient with neuronal intranuclear inclusion 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

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

Collaborators9

Viktor Stranecky

Lenka Noskova

Jan Zivny

Jiří Gurka

Martin Meliska

Agnieszka Łaszkiewicz

Luca Rampoldi

Petr Prikryl

Alice Krebsova

How do I reach out?