M. Elleder

Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Eugene D. Carstea, Jill A. Morris, Katherine Coleman et al. · Science · 1997 · 1.5K citations

Life Sciences, Genetics, Molecular Biology +17

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 · 262 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

New insights in cardiac structural changes in patients with Fabry’s disease

Aleš Linhart, Tomáš Paleček, Jan Bultas et al. · American Heart Journal · 2000 · 251 citations

Medicine, Cardiology, Physiology +14

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

Helena Poupětová, J. Ledvinová, Linda Berná et al. · Journal of Inherited Metabolic Disease · 2010 · 216 citations · Full text

Life Sciences, Pathology, Neurobiology Of Disease +9

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease

M. Elleder, V. Bradová, F. Šmíd et al. · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 1990 · 215 citations

Medicine, Cardiology, Pathology +7