Helena Jahnová

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Lenka Nosková, Viktor Stránecký, Hana Hartmannová et al. · The American Journal of Human Genetics · 2011 · 261 citations · Full text

Linkage Mapping, Neurogenomics, Genetics +21

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Michael Fietz, Moeenaldeen AlSayed, Derek Burke et al. · Molecular Genetics and Metabolism · 2016 · 97 citations · Full text

Creutzfeldt-jakob Disease, Neurological Disorder, Expert Recommendations +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 · 70 citations · Full text

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases

Ladislav Kuchař, Jakub Sikora, Maria Gulinello et al. · Analytical Biochemistry · 2017 · 68 citations

C Diseases, Plasmatic Lysosphingomyelin, Neurological Disorder +8

Long‐term survival outcomes of patients with <scp>Niemann‐Pick</scp> disease type C receiving miglustat treatment: A large retrospective observational study

Marc C. Patterson, William S. Garver, R. Giugliani et al. · Journal of Inherited Metabolic Disease · 2020 · 64 citations · Full text