(Q35575793)

English

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

scientific article published on 12 March 2015

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scholarly article

1 reference

Europe PubMed Central

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2 March 2020

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets (English)

1 reference

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2 March 2020

Niemann-Pick disease

1 reference

based on heuristic

inferred from title

Niemann-Pick disease, type C1

1 reference

based on heuristic

inferred from title

8

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2 March 2020

Christopher A Wassif

1

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2 March 2020

2

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2 March 2020

Luis Sanchez Pulido

4

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2 March 2020

Antony Cougnoux

5

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2 March 2020

6

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2 March 2020

Joan Bailey-Wilson

9

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2 March 2020

Leslie G Biesecker

10

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2 March 2020

author name string

James Iben

3

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2 March 2020

Daniel S Ory

7

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2 March 2020

Forbes D Porter

11

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2 March 2020

language of work or name

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publication date

12 March 2015

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2 March 2020

Genetics in Medicine

1 reference

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2 March 2020

18

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2 March 2020

41-48

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2 March 2020

1

1 reference

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2 March 2020

https://scigraph.springernature.com/pub.10.1038/gim.2015.25

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

27 July 2018

Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets

1 reference

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Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review

1 reference

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27 July 2018

Potential pitfalls and solutions for use of fluorescent fusion proteins to study the lysosome

1 reference

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27 July 2018

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

27 July 2018

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

27 July 2018

Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

27 July 2018

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

27 July 2018

Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes

1 reference

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27 July 2018

An integrated map of genetic variation from 1,092 human genomes

1 reference

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27 July 2018

δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

27 July 2018

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

27 July 2018

Predicting the functional impact of protein mutations: application to cancer genomics

1 reference

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27 July 2018

Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

27 July 2018

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

27 July 2018

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

27 July 2018

Niemann-Pick disease type C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

27 July 2018

I-TASSER: a unified platform for automated protein structure and function prediction

1 reference

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27 July 2018

A method and server for predicting damaging missense mutations

1 reference

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27 July 2018

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

1 reference

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27 July 2018

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

27 July 2018

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

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27 July 2018

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

27 July 2018

Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations

1 reference

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27 July 2018

Structural Basis of Sterol Binding by NPC2, a Lysosomal Protein Deficient in Niemann-Pick Type C2 Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

27 July 2018

ConSurf 2005: the projection of evolutionary conservation scores of residues on protein structures

1 reference

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27 July 2018

The ConSurf-HSSP database: the mapping of evolutionary conservation among homologs onto PDB structures.

1 reference

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27 July 2018

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

27 July 2018

Ultrasound echogenic splenic tumors: nodular manifestation of type C Niemann-Pick disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

27 July 2018

Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

26 September 2018

An "exacerbate-reverse" strategy in yeast identifies histone deacetylase inhibition as a correction for cholesterol and sphingolipid transport defects in human Niemann-Pick type C disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

26 September 2018

The Human Gene Mutation Database: 2008 update

1 reference

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26 September 2018

SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms.

1 reference

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26 September 2018

Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486368

26 September 2018

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

1 reference

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26 September 2018

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

1 reference

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26 September 2018

An adult with a non-neuronopathic form of Niemann-Pick C disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/25764212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective cholesterol traffic and neuronal differentiation in neural stem cells of Niemann-Pick type C disease improved by valproic acid, a histone deacetylase inhibitor

1 reference

https://pubmed.ncbi.nlm.nih.gov/25764212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)

1 reference

https://pubmed.ncbi.nlm.nih.gov/25764212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/GIM.2015.25

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25764212%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25764212%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25764212%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

ResearchGate publication ID

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