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 ye...

por Jahnova, Helena, Dvorakova, Lenka, Vlaskova, Hana, Hulkova, Helena, Poupetova, Helena, Hrebicek, Martin, Jesina, Pavel
Publicado 2014

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

por Elleder, Milan, Dvořáková, Lenka, Stolnaja, Larisa, Vlášková, Hana, Hůlková, Helena, Druga, Rastislav, Poupětová, Helena, Košťálová, Eva, Mikuláštík, Josef
Publicado 2008

Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population

por Kousal, Bohdan, Hlavata, Lucia, Vlaskova, Hana, Dvorakova, Lenka, Brichova, Michaela, Dubska, Zora, Langrova, Hana, Vincent, Andrea L., Dudakova, Lubica, Liskova, Petra
Publicado 2021

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

por Vazna, Alzbeta, Beesley, Clare, Berna, Linda, Stolnaja, Larisa, Myskova, Helena, Bouckova, Michaela, Vlaskova, Hana, Poupetova, Helena, Zeman, Jiri, Magner, Martin, Hlavata, Anna, Winchester, Bryan, Hrebicek, Martin, Dvorakova, Lenka
Publicado 2009

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydr...

por Rücklová, Kristina, Hrubá, Eva, Pavlíková, Markéta, Hanák, Petr, Farolfi, Martina, Chrastina, Petr, Vlášková, Hana, Kousal, Bohdan, Smolka, Vratislav, Foltenová, Hana, Adam, Tomáš, Friedecký, David, Ješina, Pavel, Zeman, Jiří, Kožich, Viktor, Honzík, Tomáš
Publicado 2021

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

por Musalkova, Dita, Majer, Filip, Kuchar, Ladislav, Luksan, Ondrej, Asfaw, Befekadu, Vlaskova, Hana, Storkanova, Gabriela, Reboun, Martin, Poupetova, Helena, Jahnova, Helena, Hulkova, Helena, Ledvinova, Jana, Dvorakova, Lenka, Sikora, Jakub, Jirsa, Milan, Vanier, Marie T., Hrebicek, Martin
Publicado 2020