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protein A
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Person
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MUDr. Jakub Sikora Ph.D.
Academic staff at First Faculty of Medicine
1 class
64 publications
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class
Practical course of confocal microscopy: multiple fluorescent labeling, deconvolution, co-localization, 3D reconstruction
B81681 |
First Faculty of Medicine
Publications
publication
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient
2020 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
2020 |
First Faculty of Medicine
publication
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
2020 |
First Faculty of Medicine
publication
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
2018 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II
2018 |
First Faculty of Medicine
publication
Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency
2018 |
First Faculty of Medicine
publication
X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities
2016 |
First Faculty of Medicine
publication
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics
2014 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency
2012 |
First Faculty of Medicine
publication
Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency
2012 |
First Faculty of Medicine
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