(Q45307587)

11 December 2017

title

Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. (English)

1 reference

11 December 2017

main subject

spinocerebellar ataxia

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7

Zoghbi HY

1 reference

11 December 2017

Chong SS

1

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11 December 2017

McCall AE

2

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11 December 2017

Cota J

3

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11 December 2017

Subramony SH

4

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11 December 2017

Orr HT

5

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11 December 2017

Hughes MR

6

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11 December 2017

language of work or name

English

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publication date

1 July 1995

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11 December 2017

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11 December 2017

volume

10

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11 December 2017

issue

3

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11 December 2017

page(s)

344-350

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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

11 December 2017

cites work

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Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

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Spinocerebellar ataxia: study of a large kindred. I. General information and genetics

21 January 2018

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7 January 2021

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

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https://api.crossref.org/works/10.1038%2FNG0795-344

7 January 2021

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

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https://api.crossref.org/works/10.1038%2FNG0795-344

7 January 2021

Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias.

1 reference

https://api.crossref.org/works/10.1038%2FNG0795-344

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FNG0795-344

7 January 2021

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

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Mutation of human short tandem repeats

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7 January 2021

Dynamic mutations hit double figures

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https://api.crossref.org/works/10.1038%2FNG0795-344

7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

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7 January 2021

Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families

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7 January 2021

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

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7 January 2021

Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene

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7 January 2021

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

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7 January 2021

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

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7 January 2021

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

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7 January 2021

Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)

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7 January 2021

Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues

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7 January 2021

The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family

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7 January 2021

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

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7 January 2021

Trinucleotide repeat instability: when and where?

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7 January 2021

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7 January 2021

Gametic but not somatic instability of CAG repeat length in Huntington's disease.

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7 January 2021

Neuropathological classification of Huntington's disease

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7 January 2021

Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences

1 reference

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7 January 2021

Whole genome amplification from a single cell: implications for genetic analysis

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7 January 2021

Complex gene conversion events in germline mutation at human minisatellites

1 reference

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7 January 2021

Identifiers

DOI

10.1038/NG0795-344

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Dimensions Publication ID

11 December 2017

1030564294

0 references

1 reference