Publications
- Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient2020 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study2020 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- 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
- LAMP2 flow cytometry in peripheral white blood cells is an established method that facilitates identification of heterozygous Danon disease female patients and mosaic mutation carriers +12015 | First Faculty of Medicine, Second Faculty of Medicine
- 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 deficiency2012 | First Faculty of Medicine
- Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease2022 | First Faculty of Medicine
- Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease2021 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové
- Easy and fast PCR-based protocol allows characterization of breakpoints resulting from Alu/Alu-mediated genomic rearrangements2021 | First Faculty of Medicine
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | First Faculty of Medicine
- Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing2020 | First Faculty of Medicine
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