Condition: Niemann-Pick Disease, Type C
rs139751448 in
NPC1 gene and
Niemann-Pick Disease, Type C
PMID 12955717 2003 Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
PMID 11545687 2002 Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.
PMID 11349231 2001 Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
PMID 19744920 2010 The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
PMID 11333381 2001 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.
PMID 26981555 2016 Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
PMID 22676771 2012 Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
PMID 9211849 1997 Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
PMID 22476655 2013 Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.
PMID 16126423 2006 Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
PMID 23773996 2013 Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.
PMID 23430855 2012 Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.
PMID 11754101 2002 NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
PMID 19252935 2009 Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.
PMID 26830282 2016 Lysosomal Storage Disorders in Egyptian Children.
PMID 10521290 1999 Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.
PMID 25236789 2014 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.
PMID 11182931 2000 Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.
PMID 10480349 1999 NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
PMID 19223215 2009 Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain.
PMID 23433426 2013 Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
PMID 24570279 2014 Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?
PMID 17003072 2007 The adult form of Niemann-Pick disease type C.
PMID 23821321 2014 Niemann-pick disease type C: new aspects in a long published family - partial manifestations in heterozygotes.
PMID 18216017 2008 Our findings provide the first description of an endoplasmic reticulum trafficking defect as a mechanism for human NPC disease, shedding light on the mechanism by which the NPC1(I1061T) mutation causes disease and suggesting novel approaches to treat NPC disease caused by the NPC1(I1061T) mutation.
PMID 10521297 1999 Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.
rs80358260 in
NPC2;ISCA2 gene and
Niemann-Pick Disease, Type C
PMID 25236789 2014 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.
PMID 17470133 2007 Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
PMID 23433426 2013 Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
PMID 11567215 2001 Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.
PMID 11125141 2000 Identification of HE1 as the second gene of Niemann-Pick C disease.
PMID 12955717 2003 Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.