Pages that link to "Q24563364"

The following pages link to Linkage of Niemann-Pick disease type C to human chromosome 18 (Q24563364):

Displaying 35 items.

• Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain (Q22010647) (← links)
• The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. (Q24539102) (← links)
• Linkage of Niemann-Pick Disease Type D to the Same Region of Human Chromosome 18 as Niemann-Pick Disease Type C (Q24678685) (← links)
• Niemann-Pick disease type C symptomatology: an expert-based clinical description (Q26860273) (← links)
• Saccharomyces cerevisiae Npc2p is a functionally conserved homologue of the human Niemann-Pick disease type C 2 protein, hNPC2. (Q27937861) (← links)
• Recent Advances in Elucidating Niemann‐Pick C Disease (Q28261202) (← links)
• The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes (Q33577880) (← links)
• Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin (Q33945068) (← links)
• Niemann-Pick type C: a disorder of cellular cholesterol trafficking (Q34101307) (← links)
• Early steps in steroidogenesis: intracellular cholesterol trafficking (Q34221799) (← links)
• Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease (Q34513514) (← links)
• Feline Niemann-Pick disease type C (Q35834135) (← links)
• Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. (Q35882433) (← links)
• The usefulness of bone marrow aspiration in the diagnosis of Niemann-Pick disease type C in infantile liver disease (Q36121336) (← links)
• Substantial narrowing of the Niemann-Pick C candidate interval by yeast artificial chromosome complementation. (Q36656106) (← links)
• A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin (Q36828054) (← links)
• Niemann-Pick disease, type C and Roscoe Brady (Q39030895) (← links)
• Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells (Q39732986) (← links)
• Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages (Q40417608) (← links)
• Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. (Q40781795) (← links)
• Decreased membrane fluidity and unsaturated fatty acids in Niemann–Pick disease type C fibroblasts (Q41033190) (← links)
• Type C Niemann-Pick disease fibroblasts and their transformed cell lines are hypersensitive to HMG-CoA reductase inhibitors (Q41505685) (← links)
• Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking (Q42054334) (← links)
• Complementation studies in Niemann-Pick disease type C indicate the existence of a second group (Q42658158) (← links)
• Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease (Q46237931) (← links)
• Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients (Q47639257) (← links)
• Peroxisomal impairment in Niemann-Pick type C disease (Q48767227) (← links)
• Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C. (Q50887470) (← links)
• Linkage disequilibrium mapping of the Nova Scotia variant of Niemann-Pick disease. (Q52535300) (← links)
• Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism? (Q64096430) (← links)
• Metabolic abnormalities in feline Niemann-Pick type C heterozygotes (Q71523685) (← links)
• Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups alpha and beta stimulates LDL-derived cholesterol esterification (Q71943533) (← links)
• Progressive liver failure in a patient with adult Niemann-Pick disease associated with generalized AL amyloidosis (Q72011839) (← links)
• Diagnosis of Niemann-Pick disease type C (Q72348581) (← links)
• Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C (Q90494891) (← links)