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.
J Inherit Metab Dis. 2013 May 29. [Epub ahead of print]
IF 3.577 (2011)
The coincidence of IgA nephropathy and Fabry disease.
Maixnerová D, Tesař V, Ryšavá R, Reiterová J, Poupětová H, Dvořáková L, Goláň L, Neprašová M, Kidorová J, Merta M, Honsová E.
BMC Nephrol. 2013 Jan 11;14:6. doi: 10.1186/1471-2369-14-6.
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.
Clin Genet. 2012 Dec 26. doi: 10.1111/cge.12085.[Epub ahead of print]
IF 3.128 (2011)
X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients.
Amorosi CA, Myskóva H, Monti MR, Argaraña CE, Morita M, Kemp S, de Kremer RD, Dvoráková L, de Ramírez AM.
PLoS One. 2012;7(12):e52635.
IF 4.092 (2011)
Diagnostika a možnosti léčby Niemann-Pickovy choroby typ C
H. Jahnová, L. Dvořáková, H. Hůlková, M. Hřebíček, P. Ješina.
Cesk Slov Neurol N 2012; 75/108(3): 303-308
Majer F, Vlaskova H, Krol L, Kalina T, Kubanek M, Stolnaya L, Dvorakova L, Elleder M, Sikora J.
Gene. 2012 May 1;498(2):183-95. Epub 2012 Feb 21.
IF 2.341 (2011)
