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Author/Creator Piherova, Lenka

1. Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient. Issue 1 (15th November 2019)

Authors:
Majer, Filip; Kousal, Bohdan; Dusek, Petr; Piherova, Lenka; Reboun, Martin; Mihalova, Romana; Gurka, Jiri; Krebsova, Alice; Vlaskova, Hana; Dvorakova, Lenka; Krihova, Jana; Liskova, Petra; Kmoch, Stanislav; Kalina, Tomas; Kubanek, Milos; Sikora, Jakub
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 1(2020)
Page Start:
219
Record Type:
Journal Article
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2. Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study. (13th July 2020)

Authors:
Gurka, Jiri; Piherova, Lenka; Majer, Filip; Chaloupka, Anna; Zakova, Daniela; Pelak, Ondrej; Krebsova, Alice; Peichl, Petr; Krejci, Jan; Freiberger, Tomas; Melenovsky, Vojtech; Kautzner, Josef; Kalina, Tomas; Sikora, Jakub; Kubanek, Milos
Journal:
ESC heart failure
Issue:
Volume 7:Number 5(2020)
Page Start:
2534
Record Type:
Journal Article
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3. LAMP2 exon‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?. Issue 11 (8th September 2018)

Authors:
Majer, Filip; Piherova, Lenka; Reboun, Martin; Stara, Veronika; Pelak, Ondrej; Norambuena, Patricia; Stranecky, Viktor; Krebsova, Alice; Vlaskova, Hana; Dvorakova, Lenka; Kmoch, Stanislav; Kalina, Tomas; Kubanek, Milos; Sikora, Jakub
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2430
Record Type:
Journal Article
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4. Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease. Issue 1 (13th June 2020)

Authors:
Kousal, Bohdan; Majer, Filip; Vlaskova, Hana; Dvorakova, Lenka; Piherova, Lenka; Meliska, Martin; Langrova, Hana; Palecek, Tomas; Kubanek, Milos; Krebsova, Alice; Gurka, Jiri; Stara, Veronika; Michaelides, Michel; Kalina, Tomas; Sikora, Jakub; Liskova, Petra
Journal:
Acta ophthalmologica
Issue:
Volume 99:Issue 1(2021)
Page Start:
61
Record Type:
Journal Article
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