The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease (Q36559246)

14 August 2017

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease (English)

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14 August 2017

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Peter Holmans

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James F Gusella

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14 August 2017

Tammy Gillis

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14 August 2017

Michael Orth

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14 August 2017

Marcy E MacDonald

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14 August 2017

Tiffany Hadzi

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14 August 2017

Diane Lucente

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Jayalakshmi Srinidhi Mysore

14 August 2017

series ordinal

object named as

Jayalakshmi Srinidhi Mysore

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14 August 2017

Seung Kwak

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14 August 2017

Kawther Abu Elneel

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14 August 2017

Lesley Jones

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14 August 2017

Jae Whan Keum

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14 August 2017

Aram Shin

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14 August 2017

Jong-Min Lee

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14 August 2017

language of work or name

English

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publication date

1 February 2016

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American Journal of Human Genetics

14 August 2017

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14 August 2017

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14 August 2017

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14 August 2017

287-298

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Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Hypothalamic and Limbic System Changes in Huntington's Disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Pulmonary function in patients with Huntington's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Circadian and sleep disorder in Huntington's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Assessment of cortical and striatal involvement in 523 Huntington disease brains

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Striatal neuronal loss correlates with clinical motor impairment in Huntington's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Striatal and white matter predictors of estimated diagnosis for Huntington disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Normal huntingtin function: an alternative approach to Huntington's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Onset and rate of striatal atrophy in preclinical Huntington disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

No post-genetics era in human disease research

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Striatal volume loss in HD as measured by MRI and the influence of CAG repeat

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Differences in duration of Huntington's disease based on age at onset

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Duration of illness in Huntington's disease is not related to age at onset

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Huntington's chorea in children. Report of four cases

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Positron emission tomographic scan investigations of Huntington's disease: cerebral metabolic correlates of cognitive function

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Conditions associated with Huntington's disease at death. A case-control study

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Huntington's disease mortality in the United States

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Normal caudate glucose metabolism in persons at risk for Huntington's disease

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

PET scan investigations of Huntington's disease: cerebral metabolic correlates of neurological features and functional decline

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Age of death and duration in Huntington's disease in Tasmania

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Weight loss in Huntington's disease

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

High prevalence of diabetes mellitus in a five-generation Chinese family with Huntington's disease

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Survival of Huntington's disease patients in Serbia: longer survival in female patients

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

History of genetic disease: the molecular genetics of Huntington disease - a history

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Huntington's disease of the endocrine pancreas: insulin deficiency and diabetes mellitus due to impaired insulin gene expression

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Weight loss in early stage of Huntington's disease

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746370

Juvenile onset Huntington disease resulting from a very large maternal expansion

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26849111

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2015.12.018

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

26849111

1 reference