Publications
- 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
- 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
- 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
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | First Faculty of Medicine
- Role of novel laboratory techniques in Niemann-Pick type C disease dia-gnostics2020 | First Faculty of Medicine
- 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
- Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation2017 | First Faculty of Medicine
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