Pages that link to "Q42665942"
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The following pages link to NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes (Q42665942):
Displaying 29 items.
- Endogenous and synthetic neurosteroids in treatment of Niemann-Pick Type C disease (Q24644950) (← links)
- Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review (Q26747384) (← links)
- Genetic and laboratory diagnostic approach in Niemann Pick disease type C (Q26999301) (← links)
- The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease (Q30235362) (← links)
- NPC-db, a Niemann-Pick type C disease gene variation database (Q30483650) (← links)
- The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes (Q33577880) (← links)
- Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations (Q33635291) (← links)
- Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. (Q33991547) (← links)
- Niemann-Pick disease type C. (Q35219271) (← links)
- A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease. (Q35775542) (← links)
- Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats? (Q37247214) (← links)
- Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking (Q37397806) (← links)
- Genome sequencing in a case of Niemann-Pick type C (Q37416674) (← links)
- Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. (Q39125751) (← links)
- Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease (Q44199173) (← links)
- Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island. (Q44249142) (← links)
- Niemann-Pick disease type C--a neurometabolic disease through disturbed intracellular lipid transport (Q44613378) (← links)
- Niemann-Pick type C disease associated with peripheral neuropathy. (Q44663320) (← links)
- Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations (Q46104175) (← links)
- Liver disease with altered bile acid transport in Niemann-Pick C mice on a high-fat, 1% cholesterol diet (Q46404317) (← links)
- Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients (Q47639257) (← links)
- Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. (Q49757755) (← links)
- High-content screen for modifiers of Niemann-Pick Type C disease in patient cells. (Q52585959) (← links)
- Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization (Q64109255) (← links)
- AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease (Q64376982) (← links)
- Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients (Q85407581) (← links)
- Hyperactive glial cells contribute to axonal pathologies in the spinal cord of Npc1 mutant mice (Q87469994) (← links)
- A gene-based recessive diplotype exome scan discovers FGF6, a novel hepcidin-regulating iron-metabolism gene (Q91982792) (← links)
- Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism (Q92736824) (← links)