Lenka Dvorakova

Author PubWeight™ 11.26^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.	J Mol Med (Berl)	2005	1.55
2	Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.	Brain	2009	1.08
3	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.	Orphanet J Rare Dis	2014	0.90
4	Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.	Am J Med Genet A	2009	0.87
5	Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.	Eur J Paediatr Neurol	2010	0.83
6	Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.	Hum Mutat	2010	0.79
7	Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.	J Inherit Metab Dis	2013	0.79
8	Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.	Clin Chim Acta	2009	0.79
9	Indel in the FIC1/ATP8B1 gene-a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis.	Hepatol Res	2004	0.79
10	New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis.	Mol Genet Metab	2003	0.79
11	Assessment of placental and maternal stress responses in patients with pregnancy related complications via monitoring of heat shock protein mRNA levels.	Mol Biol Rep	2014	0.77
12	Investigation of substituted 6-aminohexanoates as skin penetration enhancers.	Bioorg Med Chem	2011	0.77
13	FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism.	Am J Med Genet A	2010	0.77
14	Genetic and clinical features of patients with Gaucher disease in Hungary.	Blood Cells Mol Dis	2007	0.76
15	Investigating the activity of 2-substituted alkyl-6-(2,5-dioxopyrrolidin-1-yl)hexanoates as skin penetration enhancers.	Bioorg Med Chem	2010	0.75