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Author/Creator Majer, Filip

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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5. Loading of cell cultures with cholesterol‐dextran particles as a new functional test for Niemann–Pick type C disease. Issue 3 (6th February 2022)

Authors:
Majer, Filip; Asfaw, Befekadu; Kuchař, Ladislav; Mušálková, Dita; Steiner‐Mrázová, Lenka; Dobrovolný, Robert; Ledvinová, Jana; Hřebíček, Martin
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 3(2022)
Page Start:
584
Record Type:
Journal Article
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6. Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics. Issue 1 (29th May 2013)

Authors:
Majer, Filip; Pelak, Ondrej; Kalina, Tomas; Vlaskova, Hana; Dvorakova, Lenka; Honzik, Tomas; Palecek, Tomas; Kuchynka, Petr; Masek, Martin; Zeman, Jiri; Elleder, Milan; Sikora, Jakub
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 1(2014)
Page Start:
117
Record Type:
Journal Article
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7. 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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8. Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing. Issue 7 (26th April 2020)

Authors:
Jedličková, Ivana; Přistoupilová, Anna; Nosková, Lenka; Majer, Filip; Stránecký, Viktor; Hartmannová, Hana; Hodaňová, Kateřina; Trešlová, Helena; Hýblová, Michaela; Solár, Peter; Minárik, Gabriel; Giertlová, Mária; Kmoch, Stanislav
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 7(2020)
Page Start:
n/a
Record Type:
Journal Article
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