CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches (Q34624785)

3 August 2017

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title

CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches (English)

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3 August 2017

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Douglas R Langbehn

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Jane S. Paulsen

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Jane S Paulsen

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3

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Michael R. Hayden

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Michael R Hayden

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author name string

and the PREDICT-HD Investigators of the Huntington Study Group

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4

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3 August 2017

1 March 2010

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

3 August 2017

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3 August 2017

153B

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3 August 2017

2

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3 August 2017

397-408

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CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

Detection of Huntington's disease decades before diagnosis: the Predict-HD study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

HYPK, a Huntingtin interacting protein, reduces aggregates and apoptosis induced by N-terminal Huntingtin with 40 glutamines in Neuro2a cells and exhibits chaperone-like activity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

Predictors of diagnosis in Huntington disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

Transcriptional signatures in Huntington's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

Predictability of age at onset in Huntington disease in the Dutch population

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

Family and molecular data for a fine analysis of age at onset in Huntington disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

Basal ganglia volume and proximity to onset in presymptomatic Huntington disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

Unified Huntington's disease rating scale: Reliability and consistency

7 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30992

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30992

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30992

Preparing for preventive clinical trials: the Predict-HD study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30992

A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30992

The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048807

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

26 October 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30992

21 January 2018

Identifiers

DOI

10.1002/AJMG.B.30992

1 reference

3 August 2017

1 reference

3 August 2017

1 reference

PubMed ID

19548255