Vlaskova H - Search Results

1

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

Majer F, Pelak O, Kalina T, Vlaskova H, Dvorakova L, Honzik T, Palecek T, Kuchynka P, Masek M, Zeman J, Elleder M, Sikora J. Majer F, et al. Among authors: vlaskova h. J Inherit Metab Dis. 2014 Jan;37(1):117-24. doi: 10.1007/s10545-013-9617-z. Epub 2013 May 29. J Inherit Metab Dis. 2014. PMID: 23716275

2

A case of excessive autophagocytosis with multiorgan involvement and low clinical penetrance.

Sikora J, Dvoráková L, Vlásková H, Stolnaja L, Betlach J, Spacek J, Elleder M. Sikora J, et al. Among authors: vlaskova h. Cesk Patol. 2007 Jul;43(3):93-103. Cesk Patol. 2007. PMID: 17821837

3

Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.

Elleder M, Dvoráková L, Stolnaja L, Vlásková H, Hůlková H, Druga R, Poupetová H, Kostálová E, Mikulástík J. Elleder M, et al. Among authors: vlaskova h. Acta Neuropathol. 2008 Jul;116(1):119-24. doi: 10.1007/s00401-008-0349-3. Epub 2008 Feb 19. Acta Neuropathol. 2008. PMID: 18283468 Free PMC article.

4

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

Vazna A, Beesley C, Berna L, Stolnaja L, Myskova H, Bouckova M, Vlaskova H, Poupetova H, Zeman J, Magner M, Hlavata A, Winchester B, Hrebicek M, Dvorakova L. Vazna A, et al. Among authors: vlaskova h. Am J Med Genet A. 2009 May;149A(5):965-74. doi: 10.1002/ajmg.a.32812. Am J Med Genet A. 2009. PMID: 19396826 Free PMC article.

5

Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.

Luksan O, Jirsa M, Eberova J, Minks J, Treslova H, Bouckova M, Storkanova G, Vlaskova H, Hrebicek M, Dvorakova L. Luksan O, et al. Among authors: vlaskova h. Hum Mutat. 2010 Apr;31(4):E1294-303. doi: 10.1002/humu.21215. Hum Mutat. 2010. PMID: 20127982

6

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 deficiency.

Majer F, Vlaskova H, Krol L, Kalina T, Kubanek M, Stolnaya L, Dvorakova L, Elleder M, Sikora J. Majer F, et al. Among authors: vlaskova h. Gene. 2012 May 1;498(2):183-95. doi: 10.1016/j.gene.2012.02.004. Epub 2012 Feb 21. Gene. 2012. PMID: 22365987

7

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.

Storkanova G, Vlaskova H, Chuzhanova N, Zeman J, Stranecky V, Majer F, Peskova K, Luksan O, Jirsa M, Hrebicek M, Dvorakova L. Storkanova G, et al. Among authors: vlaskova h. Clin Genet. 2013 Dec;84(6):552-9. doi: 10.1111/cge.12085. Epub 2013 Feb 7. Clin Genet. 2013. PMID: 23278509

8

Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS).

Palecek T, Honzikova J, Poupetova H, Vlaskova H, Kuchynka P, Golan L, Magage S, Linhart A. Palecek T, et al. Among authors: vlaskova h. J Inherit Metab Dis. 2014 May;37(3):455-60. doi: 10.1007/s10545-013-9659-2. Epub 2013 Oct 31. J Inherit Metab Dis. 2014. PMID: 24173410

9

Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma.

Hůlková H, Svojanovský J, Sevela K, Krusová D, Hanuš J, Vězda P, Souček M, Márová I, Feit J, Zambo I, Kovačevicova M, Vlášková H, Kostrouchová V, Novák P, Kostrouch Z, Elleder M. Hůlková H, et al. Among authors: vlaskova h. Amyloid. 2014 Mar;21(1):57-61. doi: 10.3109/13506129.2013.851076. Epub 2013 Nov 15. Amyloid. 2014. PMID: 24479650

10

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.

Jahnova H, Dvorakova L, Vlaskova H, Hulkova H, Poupetova H, Hrebicek M, Jesina P. Jahnova H, et al. Among authors: vlaskova h. Orphanet J Rare Dis. 2014 Sep 19;9:140. doi: 10.1186/s13023-014-0140-6. Orphanet J Rare Dis. 2014. PMID: 25236789 Free PMC article.

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