|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
|
9211849 |
1997 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease.
|
9425535 |
1997 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease.
|
9425535 |
1997 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
|
9634529 |
1998 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.
|
10521290 |
1999 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
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.
|
10521297 |
1999 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
CausalMutation
|
CLINVAR |
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.
|
10521297 |
1999 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
CausalMutation
|
CLINVAR |
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
|
10480349 |
1999 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
|
10480349 |
1999 |
|
Niemann-Pick Disease, Type C
|
|
0.740 |
CausalMutation
|
CLINVAR |
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.
|
10521297 |
1999 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
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.
|
10521297 |
1999 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
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.
|
10521297 |
1999 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.
|
11182931 |
2000 |
|
Niemann-Pick Disease, Type C
|
|
0.740 |
GeneticVariation
|
BEFREE |
The I1061T mutation is one of the most common mutations in Niemann-Pick type C disease.
|
10942596 |
2000 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
|
11479732 |
2001 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
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.
|
11333381 |
2001 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
|
11349231 |
2001 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.
|
12401890 |
2002 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
|
11754101 |
2002 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease.
|
12408188 |
2002 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.
|
11545687 |
2002 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease.
|
12554680 |
2003 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
|
12955717 |
2003 |
|
Niemann-Pick Disease, Type C
|
|
0.740 |
GeneticVariation
|
BEFREE |
We report on a patient with adult-onset Niemann-Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the NPC1 gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment.
|
14639697 |
2003 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Niemann-Pick disease type C.
|
12974729 |
2003 |