(Q34353488)

1 August 2017

title

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

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1 August 2017

main subject

spinocerebellar ataxia

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10

Zoghbi HY

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1 August 2017

Orr HT

1

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1 August 2017

Chung MY

2

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1 August 2017

Banfi S

3

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1 August 2017

Kwiatkowski TJ Jr

4

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1 August 2017

Servadio A

5

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1 August 2017

Beaudet AL

6

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1 August 2017

McCall AE

7

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1 August 2017

Duvick LA

8

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1 August 2017

Ranum LP

9

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1 August 2017

language of work or name

English

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publication date

1 July 1993

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1 August 2017

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1 August 2017

volume

4

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1 August 2017

issue

3

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1 August 2017

page(s)

221-226

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Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

The gene for Machado-Joseph disease maps to human chromosome 14q

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

The 56/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

Nucleotide sequence from the neurogenic locus notch implies a gene product that shares homology with proteins containing EGF-like repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

prospero is expressed in neuronal precursors and encodes a nuclear protein that is involved in the control of axonal outgrowth in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

Synergistic activation by the glutamine-rich domains of human transcription factor Sp1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

A second-generation linkage map of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

A family with hereditary ataxia: HLA typing

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred.

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

Brief report: reverse mutation in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

Unstable DNA sequence in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

Genetic aspects of autosomal dominant late onset cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

Evidence of founder chromosomes in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

The Drosophila couch potato protein is expressed in nuclei of peripheral neuronal precursors and shows homology to RNA-binding proteins

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

Isolation of single-copy human genes from a library of yeast artificial chromosome clones

1 reference

https://api.crossref.org/works/10.1038%2FNG0793-221

7 January 2021

Identifiers

DOI

10.1038/NG0793-221

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Dimensions Publication ID

1 August 2017

1024789892

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1 reference