- 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 | 1. lékařská fakulta, 2. lékařská fakulta
- Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease2021 | 1. lékařská fakulta, 2. lékařská fakulta, Ústřední knihovna, Lékařská fakulta v Hradci Králové
- 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 | 2. lékařská fakulta
- 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 | 1. lékařská fakulta
- LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?2018 | 1. lékařská fakulta, 2. lékařská fakulta, Ústřední knihovna
- Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study2020 | 1. lékařská fakulta, 2. lékařská fakulta, Ústřední knihovna
- Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient2020 | 1. lékařská fakulta, 2. lékařská fakulta, Ústřední knihovna
- Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric studyPublikace bez příslušnosti k fakultě
- Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics2014 | 1. lékařská fakulta, 2. lékařská fakulta
- Danonova nemoc: další klinická a molekulární heterogenita2009 | 1. lékařská fakulta
- Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells2021 | 1. lékařská fakulta