|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Niemann-Pick disease type C.
|
12974729 |
2003 |
|
Nasopharyngeal carcinoma
|
|
0.020 |
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 |
|
Dystonia Disorders
|
|
0.010 |
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 |
|
Dystonia
|
|
0.010 |
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 |
|
Impaired cognition
|
|
0.010 |
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 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.
|
15459971 |
2004 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.
|
15459971 |
2004 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
|
16098014 |
2005 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
CausalMutation
|
CLINVAR |
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
|
16098014 |
2005 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.
|
15774455 |
2005 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
CausalMutation
|
CLINVAR |
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.
|
16126423 |
2006 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
|
16802107 |
2006 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
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.
|
16126423 |
2006 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
CausalMutation
|
CLINVAR |
Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding.
|
18216017 |
2008 |
|
Niemann-Pick Disease, Type C
|
|
0.740 |
CausalMutation
|
CLINVAR |
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.
|
18216017 |
2008 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
CausalMutation
|
CLINVAR |
Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.
|
20521171 |
2010 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
CausalMutation
|
CLINVAR |
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
|
19744920 |
2010 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Niemann-Pick disease type C.
|
20525256 |
2010 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
|
19744920 |
2010 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Niemann-Pick disease type C.
|
20525256 |
2010 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
|
19744920 |
2010 |
|
Niemann-Pick Disease, Type C
|
|
0.740 |
GeneticVariation
|
BEFREE |
Some HDAC inhibitors lead to a dramatic correction in the NPC phenotype in cells with either one or two copies of the NPC1(I1061T) mutation, and for several of the inhibitors, correction is associated with increased expression of NPC1 protein.
|
21436030 |
2011 |
|
Nasopharyngeal carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Some HDAC inhibitors lead to a dramatic correction in the NPC phenotype in cells with either one or two copies of the NPC1(I1061T) mutation, and for several of the inhibitors, correction is associated with increased expression of NPC1 protein.
|
21436030 |
2011 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
|
22572546 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
|
22572546 |
2012 |