×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.
30119649
2018
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.
29197565
2018
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods.
29100954
2018
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.
28222799
2017
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity.
28130309
2017
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity.
28130309
2017
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl.
28480683
2017
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells.
28193631
2017
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Early experience with compassionate use of 2 hydroxypropyl-beta-cyclodextrin for Niemann-Pick type C disease: review of initial published cases.
28155026
2017
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
27959697
2017
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.
28167839
2017
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.
28802248
2017
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
27139891
2016
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.
26984608
2016
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.
26984608
2016
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Reduced Myelin Water in the White Matter Tracts of Patients with Niemann-Pick Disease Type C.
26939636
2016
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
27238017
2016
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.
27378690
2016
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
"Facial Dystonia with Facial Grimacing and Vertical Gaze Palsy with ""Round the Houses"" Sign in a 29-Year-Old Woman."
27928380
2016
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
26981555
2016
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea.
27366019
2016
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
25764212
2016
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.
27581084
2016
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.
27549128
2016
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.
27581084
2016