×
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
GeneticVariation
CLINVAR
24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy.
19013089 2009
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.
26019327 2015
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
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
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
A rare case of Niemann-Pick disease type C without neurological involvement in a 66-year-old patient.
26937389 2015
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.
27706244 2016
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
A yeast model system for functional analysis of the Niemann-Pick type C protein 1 homolog, Ncr1p.
16138904 2005
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat.
23791518 2013
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study.
14639697 2003
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C.
27193329 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
Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery.
24506780 2014
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.
19718781 2009
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
24767253 2014
×
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
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
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
Atypical multisensory integration in Niemann-Pick type C disease - towards potential biomarkers.
25239094 2014
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?
24570279 2014
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Cerebellar ataxia, vertical supranuclear gaze palsy, sensorineural deafness, epilepsy, dementia, and hallucinations in an adolescent male.
25149939 2014
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.
23142039 2012
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.
23774949 2014
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Cholesterol as a factor regulating intracellular localization of annexin A6 in Niemann-Pick type C human skin fibroblasts.
19900398 2010
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.
25349751 2014
×
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.
25349751 2014