(Q35882893)

English

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

scientific article published in July 1996

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scholarly article

1 reference

Europe PubMed Central

10 August 2017

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 (English)

1 reference

Europe PubMed Central

10 August 2017

Huntington's disease

0 references

author name string

D C Rubinsztein

1

1 reference

Europe PubMed Central

10 August 2017

J Leggo

2

1 reference

Europe PubMed Central

10 August 2017

R Coles

3

1 reference

Europe PubMed Central

10 August 2017

E Almqvist

4

1 reference

Europe PubMed Central

10 August 2017

V Biancalana

5

1 reference

Europe PubMed Central

10 August 2017

J J Cassiman

6

1 reference

Europe PubMed Central

10 August 2017

K Chotai

7

1 reference

Europe PubMed Central

10 August 2017

M Connarty

8

1 reference

Europe PubMed Central

10 August 2017

D Crauford

9

1 reference

Europe PubMed Central

10 August 2017

A Curtis

10

1 reference

Europe PubMed Central

10 August 2017

D Curtis

11

1 reference

Europe PubMed Central

10 August 2017

M J Davidson

12

1 reference

Europe PubMed Central

10 August 2017

A M Differ

13

1 reference

Europe PubMed Central

10 August 2017

C Dode

14

1 reference

Europe PubMed Central

10 August 2017

A Dodge

15

1 reference

Europe PubMed Central

10 August 2017

M Frontali

16

1 reference

Europe PubMed Central

10 August 2017

N G Ranen

17

1 reference

Europe PubMed Central

10 August 2017

O C Stine

18

1 reference

Europe PubMed Central

10 August 2017

M Sherr

19

1 reference

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10 August 2017

M H Abbott

20

1 reference

Europe PubMed Central

10 August 2017

M L Franz

21

1 reference

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10 August 2017

C A Graham

22

1 reference

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10 August 2017

P S Harper

23

1 reference

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10 August 2017

J C Hedreen

24

1 reference

Europe PubMed Central

10 August 2017

M R Hayden

25

1 reference

Europe PubMed Central

10 August 2017

language of work or name

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publication date

1 July 1996

1 reference

Europe PubMed Central

10 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

10 August 2017

59

1 reference

Europe PubMed Central

10 August 2017

1

1 reference

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10 August 2017

16-22

1 reference

Europe PubMed Central

10 August 2017

Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

11 July 2018

Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

11 July 2018

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

11 July 2018

A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

11 July 2018

A study of the Huntington's disease associated trinucleotide repeat in the Scottish population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

11 July 2018

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

11 July 2018

Study of the Huntington's disease (HD) gene CAG repeats in schizophrenic patients shows overlap of the normal and HD affected ranges but absence of correlation with schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

11 July 2018

Early loss of neostriatal striosome neurons in Huntington's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

11 July 2018

Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

11 July 2018

When more is less: pathogenesis of glutamine repeat neurodegenerative diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

11 July 2018

Huntington's disease: two families with differing clinical features show linkage to the G8 probe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

11 July 2018

Neuropathological classification of Huntington's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

24 September 2018

Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

24 September 2018

A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

24 September 2018

Limited expansion of the (CAG)n repeat of the Huntington gene: a premutation (?).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

24 September 2018

Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

24 September 2018

Hereditary late-onset chorea without significant dementia: genetic evidence for substantial phenotypic variation in Huntington's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915122

24 September 2018

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

1 reference

https://pubmed.ncbi.nlm.nih.gov/8659522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/8659522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8659522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

10 August 2017

1 reference

Europe PubMed Central

10 August 2017

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