Marie T. Vanier

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

Identification of <i>HE1</i> as the Second Gene of Niemann-Pick C Disease

Saule Naureckiene, David E. Sleat, Henry Lackland et al. · Science · 2000 · 829 citations

Life Sciences, Genetics, Molecular Genetics +17

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

Marc C. Patterson, Christian J. Hendriksz, Mark Walterfang et al. · Molecular Genetics and Metabolism · 2012 · 478 citations

Medicine, Internal Medicine, Pathology +7

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

Cristin Davidson, Nafeeza Ali, Matthew C. Micsenyi et al. · PLoS ONE · 2009 · 451 citations · Full text

Life Sciences, Neuroscience, Pharmacology +17

The Niemann-Pick C1 Protein Resides in a Vesicular Compartment Linked to Retrograde Transport of Multiple Lysosomal Cargo

Edward B. Neufeld, Meryl E. Wastney, Shutish C. Patel et al. · Journal of Biological Chemistry · 1999 · 375 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17