(Q37004508)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

title

Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

0 references

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

J. Michael Andresen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

author name string

J Gayán

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

D Brocklebank

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

G Alkorta-Aranburu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

E A Addis

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

US-Venezuela Collaborative Research Group

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

L R Cardon

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

D E Housman

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

N S Wexler

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

language of work or name

English

0 references

publication date

3 October 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

20 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

volume

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

page(s)

44-50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data

20 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Apolipoprotein E genotypes do not influence the age of onset in Huntington's disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Recent advances in Huntington's disease: implications for experimental therapeutics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Association study designs for complex diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Trinucleotide repeat length instability and age of onset in Huntington's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Human GluR6 kainate receptor (GRIK2): molecular cloning, expression, polymorphism, and chromosomal assignment

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

NMDA receptor losses in putamen from patients with Huntington's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Apolipoprotein E and presenilin-1 genotypes in Huntington's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

The ubiquitin pathway in Parkinson's disease

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Amino acid neurotransmitter abnormalities in Huntington's disease and the quinolinic acid animal model of Huntington's disease

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

NR2A and NR2B receptor gene variations modify age at onset in Huntington disease

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Modulation of age at onset of Huntington disease patients by variations in TP53 and human caspase activated DNase (hCAD) genes

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

The gender effect in juvenile Huntington disease patients of Italian origin

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Familial influence on age of onset among siblings with Huntington disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Analysis of CAG and CCG repeats in Huntingtin gene among HD patients and normal populations of India

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Evidence for the GluR6 gene associated with younger onset age of Huntington's disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Apolipoprotein E in the genetics and epidemiology of Alzheimer's disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

Pedigree tests of transmission disequilibrium

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597910

[Analysis of the IT15 gene in Huntington's disease families]

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17018562

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2006.045153

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17018562%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

PubMed publication ID

17018562

1 reference