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Md Suhail Alam et al.
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Micah J. Niphakis et al.
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F. Ann Ran et al.
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Collaborative Development of 2-Hydroxypropyl-β-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease
Elizabeth A. Ottinger et al.
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Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases
Darius Ebrahimi-Fakhari et al.
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Paul Helquist et al.
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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
Miriam Stampfer et al.
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Disease and patient characteristics in NP-C patients: findings from an international disease registry
Marc C. Patterson et al.
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RNAi-Based Functional Profiling of Loci from Blood Lipid Genome-Wide Association Studies Identifies Genes with Cholesterol-Regulatory Function
Peter Blattmann et al.
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Marc C. Patterson et al.
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Lee Kamentsky et al.
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Jean E. Vance et al.
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Carolina Taengemo et al.
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Manuel E. Lopez et al.
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Darius Ebrahimi-Fakhari et al.
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Gitte Krogh Nielsen et al.
PLOS ONE (2011)
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Maika S. Deffieu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Lysosomal Lipid Storage Diseases
Heike Schulze et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2011)
Identification of Surface Residues on Niemann-Pick C2 Essential for Hydrophobic Handoff of Cholesterol to NPC1 in Lysosomes
Michael L. Wang et al.
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Niemann-Pick disease type C
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Kenneth D. Harrison et al.
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Fabian Bartz et al.
CELL METABOLISM (2009)
NPC-db, a Niemann-Pick type C disease gene variation database
Heiko Runz et al.
HUMAN MUTATION (2008)
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Mark E. Gelsthorpe et al.
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Lysobisphosphatidic acid controls endosomal cholesterol levels
Julien Chevallier et al.
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Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking
Jessie R. Zhang et al.
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Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes
JD Horton et al.
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Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene
SK Loftus et al.
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Niemann-Pick C1 disease:: Correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop
G Millat et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Identification of HE1 as the second gene of Niemann-Pick C disease
S Naureckiene et al.
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Niemann-Pick type C1 (NPC1) overexpression alters cellular cholesterol homeostasis
EE Millard et al.
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