Published in Orphanet J Rare Dis on June 03, 2010
Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1 | NCT02912793
Screening of Niemann-Pick Disease, Type C in a Psychiatric Population (NPCPsy) | NCT02841358
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Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. Orphanet J Rare Dis (2012) 1.21
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Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C. Orphanet J Rare Dis (2015) 1.05
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Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration. Hum Mol Genet (2011) 0.96
Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea. J Korean Med Sci (2016) 0.96
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Therapeutic potential of cyclodextrins in the treatment of Niemann-Pick type C disease. Clin Lipidol (2012) 0.91
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. Orphanet J Rare Dis (2014) 0.90
Oxidative stress: a pathogenic mechanism for Niemann-Pick type C disease. Oxid Med Cell Longev (2012) 0.90
Development and validation of sensitive LC-MS/MS assays for quantification of HP-β-CD in human plasma and CSF. J Lipid Res (2014) 0.90
A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele. J Neurosci (2015) 0.89
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Acid sphingomyelinase activity is regulated by membrane lipids and facilitates cholesterol transfer by NPC2. J Lipid Res (2014) 0.88
Loss of Niemann-Pick C1 or C2 protein results in similar biochemical changes suggesting that these proteins function in a common lysosomal pathway. PLoS One (2011) 0.88
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Npc1 acting in neurons and glia is essential for the formation and maintenance of CNS myelin. PLoS Genet (2013) 0.86
Protein replacement therapy partially corrects the cholesterol-storage phenotype in a mouse model of Niemann-Pick type C2 disease. PLoS One (2011) 0.86
An ABCA1-independent pathway for recycling a poorly lipidated 8.1 nm apolipoprotein E particle from glia. J Lipid Res (2011) 0.86
Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency. J Lipid Res (2015) 0.86
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Drosophila melanogaster NPC2 proteins bind bacterial cell wall components and may function in immune signal pathways. Insect Biochem Mol Biol (2012) 0.85
Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks. Orphanet J Rare Dis (2013) 0.85
Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann-Pick type C disease fibroblasts. Hum Mol Genet (2012) 0.85
Electrodiagnostic testing and histopathologic changes confirm peripheral nervous system myelin abnormalities in the feline model of niemann-pick disease type C. J Neuropathol Exp Neurol (2013) 0.85
Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease. PLoS One (2013) 0.85
Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1). Hum Mol Genet (2014) 0.85
Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. BMC Neurol (2015) 0.84
Hepatic entrapment of esterified cholesterol drives continual expansion of whole body sterol pool in lysosomal acid lipase-deficient mice. Am J Physiol Gastrointest Liver Physiol (2014) 0.84
Proteomic analysis of mouse models of Niemann-Pick C disease reveals alterations in the steady-state levels of lysosomal proteins within the brain. Proteomics (2012) 0.84
Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry. Ann Lab Med (2012) 0.84
Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1. Pediatr Neurol (2014) 0.84
Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease. J Neurol (2013) 0.84
Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders. PLoS One (2013) 0.83
Plasma signature of neurological disease in the monogenetic disorder Niemann-Pick Type C. J Biol Chem (2014) 0.83
Age and prior blood feeding of Anopheles gambiae influences their susceptibility and gene expression patterns to ivermectin-containing blood meals. BMC Genomics (2015) 0.83
Cholesterol lowering effects of mono-lactose-appended β-cyclodextrin in Niemann-Pick type C disease-like HepG2 cells. Beilstein J Org Chem (2015) 0.83
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1. Hum Mol Genet (2013) 0.83
Saccadic eye movement characteristics in adult Niemann-Pick Type C disease: relationships with disease severity and brain structural measures. PLoS One (2012) 0.83
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Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interference. JIMD Rep (2011) 0.82
Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment. Orphanet J Rare Dis (2017) 0.82
Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease. PLoS One (2016) 0.82
Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C. PLoS One (2011) 0.82
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview. J Inherit Metab Dis (2014) 0.82
Genomic expression analyses reveal lysosomal, innate immunity proteins, as disease correlates in murine models of a lysosomal storage disorder. PLoS One (2012) 0.82
Quantitative comparison of the efficacy of various compounds in lowering intracellular cholesterol levels in Niemann-Pick type C fibroblasts. PLoS One (2012) 0.82
Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report. J Med Case Rep (2012) 0.82
A rare case of Niemann-Pick disease type C without neurological involvement in a 66-year-old patient. Mol Genet Metab Rep (2015) 0.81
Links between copper and cholesterol in Alzheimer's disease. Front Physiol (2013) 0.81
Quantitative Proteomics of Human Fibroblasts with I1061T Mutation in Niemann-Pick C1 (NPC1) Protein Provides Insights into the Disease Pathogenesis. Mol Cell Proteomics (2015) 0.81
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. PLoS Genet (2014) 0.81
Visualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O. Orphanet J Rare Dis (2014) 0.81
A marked paucity of granule cells in the developing cerebellum of the Npc1(-/-) mouse is corrected by a single injection of hydroxypropyl-β-cyclodextrin. Neurobiol Dis (2014) 0.81
In vivo assessment of neurodegeneration in Niemann-Pick type C mice by quantitative T2 mapping and diffusion tensor imaging. J Magn Reson Imaging (2011) 0.81
Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat. J Neurol (2016) 0.80
The role of the Niemann-Pick disease, type C1 protein in adipocyte insulin action. PLoS One (2014) 0.80
Systemic administration of 2-hydroxypropyl-β-cyclodextrin to symptomatic Npc1-deficient mice slows cholesterol sequestration in the major organs and improves liver function. Clin Exp Pharmacol Physiol (2014) 0.80
Diagnostic workup and management of patients with suspected Niemann-Pick type C disease. Ther Adv Neurol Disord (2016) 0.80
Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients. Orphanet J Rare Dis (2014) 0.80
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