A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. (Q30448206)

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6 November 2019

case report

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title

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

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L. Adrienne Cupples

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Richard H Myers

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Jian-Liang Li

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Ryan R Brinkman

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Andrea Novelletto

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Jane S. Paulsen

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Marie-Helene Saint-Hilaire

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James F Gusella

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Christopher A Ross

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Marcy E MacDonald

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Steven M Hersch

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Alexandra Durr

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Russell L Margolis

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Luc Djoussé

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Beth Knowlton

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Elisabeth W Almqvist

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Adam Rosenblatt

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Marina Frontali

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Estrella Gómez-Tortosa

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Estrella Gómez-Tortosa

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David Mayo Cabrero

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Andrea Zanko

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Ruth K Abramson

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Oksana Suchowersky

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Jayalakshmi Srinidhi Mysore

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Jayalakshmi S Mysore

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Vanessa C Wheeler

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Jang-Ho J Cha

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Larry D Atwood

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author name string

Catherine Dodé

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Patrick J Morrison

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Martha Nance

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Ronald J A Trent

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Elizabeth McCusker

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Randi Jones

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Madeline Harrison

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Ana L Russ

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Suzanne Tariot

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Michael F Gusella

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Walter J Koroshetz

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language of work or name

English

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publication date

1 August 2003

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American Journal of Human Genetics

6 November 2019

published in

1 reference

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volume

73

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issue

3

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page(s)

682-687

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Huntingtin is present in the nucleus, interacts with the transcriptional corepressor C-terminal binding protein, and represses transcription

6 November 2019

cites work

1 reference

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All LODs are not created equal

20 June 2018

1 reference

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Exact multipoint quantitative-trait linkage analysis in pedigrees by variance components

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180695

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180695

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180695

Parametric and nonparametric linkage analysis: a unified multipoint approach

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180695

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180695

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180695

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180695

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180695

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180695

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180695

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180695

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180695

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180695

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180695

Nuclear targeting of mutant Huntingtin increases toxicity

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180695

Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180695

26 November 2018

Identifiers

DOI

10.1086/378133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12900792%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

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6 November 2019

1 reference