Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. (Q45307587)

11 December 2017

title

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

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11 December 2017

main subject

spinocerebellar ataxia

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7

Zoghbi HY

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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

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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.

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

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Dynamic mutations hit double figures

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

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

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

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

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

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

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

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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

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7 January 2021

Complex gene conversion events in germline mutation at human minisatellites

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7 January 2021

Identifiers

DOI

10.1038/NG0795-344

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Dimensions Publication ID

11 December 2017

1030564294

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