ℹ️
🇬🇧
Search
Search for people relevant for "membrány"
membrány
Person
Class
Person
Publication
Programmes
Ing. Filip Majer
External person at First Faculty of Medicine
34 publications
Publications
publication
Increared GM1 ganglioside of hepatocyte sinusoidal membrane in experimental cholestasis
Publication without faculty affiliation
publication
Zvýšený výskyt gangliosidu GM1 v sinusoidální membráně hepatocytu u experimentální cholestázy (2)
Publication without faculty affiliation
publication
Changes in the spectrum of gangliosides in the hepatocyte sinusoidal membrane in experimental cholestasis
Publication without faculty affiliation
publication
Can gangliosides contribute to membrane rigidity of hepatocytes at cholestasis?
Publication without faculty affiliation
publication
Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease
2022 |
First Faculty of Medicine
publication
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease
2021 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové
publication
Easy and fast PCR-based protocol allows characterization of breakpoints resulting from Alu/Alu-mediated genomic rearrangements
2021 |
First Faculty of Medicine
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
Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study
2020 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
2020 |
First Faculty of Medicine
Load more publications (24)
Loading network view...