Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C (Q33560665)

28 July 2017

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

1 reference

Niemann-Pick disease, type C1

28 July 2017

1 reference

1 reference

Jorge I Vélez

2

0 references

William J Pavan

object named as

William J Pavan

9

0 references

Marc C. Patterson

object named as

Marc C Patterson

11

0 references

Mauricio Arcos-Burgos

object named as

Mauricio Arcos-Burgos

10

0 references

author name string

Nicole M Yanjanin

1

1 reference

28 July 2017

Andrea Gropman

3

1 reference

28 July 2017

Kelly King

4

1 reference

28 July 2017

Simona E Bianconi

5

1 reference

28 July 2017

Sandra K Conley

6

1 reference

28 July 2017

Carmen C Brewer

7

1 reference

28 July 2017

Beth Solomon

8

1 reference

28 July 2017

Forbes D Porter

12

1 reference

28 July 2017

1 January 2010

1 reference

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

28 July 2017

1 reference

28 July 2017

153B

1 reference

28 July 2017

1

1 reference

28 July 2017

132-140

1 reference

NPC-db, a Niemann-Pick type C disease gene variation database

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

The natural history of Niemann-Pick disease type C in the UK.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

The adult form of Niemann-Pick disease type C.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

Pregnane X receptor (PXR) activation: a mechanism for neuroprotection in a mouse model of Niemann-Pick C disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

Therapy of Niemann-Pick disease, type C.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

The niemann-pick disease genes; regulators of cellular cholesterol homeostasis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

Niemann-Pick disease type C.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

Identification of HE1 as the second gene of Niemann-Pick C disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

A defect in cholesterol esterification in Niemann-Pick disease (type C) patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

Progression of neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

A clinical staging classification for type C Niemann-Pick disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

Liver X receptor activation enhances cholesterol loss from the brain, decreases neuroinflammation, and increases survival of the NPC1 mouse.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

Genetic variations and treatments that affect the lifespan of the NPC1 mouse

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

Niemann-pick disease type C in neonatal cholestasis at a North American Center

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

Critical role for glycosphingolipids in Niemann-Pick disease type C.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2798912

Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19415691

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19415691

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.B.30969

1 reference

28 July 2017

1 reference

28 July 2017

1 reference