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

11 December 2017

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

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

10

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11 December 2017

344-350

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11 December 2017

3

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https://scigraph.springernature.com/pub.10.1038/ng0795-344

11 December 2017

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

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

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Identification and characterization of the gene causing type 1 spinocerebellar ataxia.

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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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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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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 length instability and age of onset in Huntington's disease

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

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

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

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

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Length of uninterrupted CGG repeats determines instability in the FMR1 gene

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

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Neuropathological classification of Huntington's disease

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

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Complex gene conversion events in germline mutation at human minisatellites

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Identifiers

DOI

10.1038/NG0795-344

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Dimensions Publication ID

11 December 2017

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