Hana Vlášková

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Maria Kousi, Eija Siintola, Lenka Dvořáková et al. · Brain · 2009 · 144 citations · Full text

Life Sciences, Genetics, Neurology +11

Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients

Patricie Burda, Alexandra Schäfer, Terttu Suormala et al. · Human Mutation · 2015 · 80 citations

Life Sciences, Genetics, Molecular Genetics +16

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

Helena Jahnová, Lenka Dvořáková, Hana Vlášková et al. · Orphanet Journal of Rare Diseases · 2014 · 72 citations · Full text

Medicine, Neurology, Pathology +15

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

Tomáš Paleček, Jitka Honzíková, Helena Poupětová et al. · Journal of Inherited Metabolic Disease · 2013 · 61 citations

Medicine, Cardiology, Internal Medicine +6

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

M. Elleder, Lenka Dvořáková, Larisa Stolnaja et al. · Acta Neuropathologica · 2008 · 40 citations · Full text

Medicine, Neurology, Neuroscience +15