(Q48080540)

8 February 2018

title

Identification and characterization of the gene causing type 1 spinocerebellar ataxia (English)

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8 February 2018

author

Harry T. Orr

9

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8 February 2018

Huda Zoghbi

10

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8 February 2018

author name string

Banfi S

1

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8 February 2018

Servadio A

2

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8 February 2018

Chung MY

3

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8 February 2018

Kwiatkowski TJ Jr

4

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8 February 2018

McCall AE

5

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8 February 2018

Duvick LA

6

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8 February 2018

Shen Y

7

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8 February 2018

Roth EJ

8

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8 February 2018

language of work or name

English

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publication date

1 August 1994

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8 February 2018

language of work

Nature Genetics

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8 February 2018

volume

7

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8 February 2018

issue

4

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8 February 2018

page(s)

513-520

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8 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

The scanning model for translation: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

3,400 new expressed sequence tags identify diversity of transcripts in human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

Tumor suppression by RNA from the 3' untranslated region of alpha-tropomyosin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

Absence of expression of the FMR-1 gene in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

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%2FNG0894-513

Basic local alignment search tool

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

Identification and characterization of the familial adenomatous polyposis coli gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

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%2FNG0894-513

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%2FNG0894-513

7 January 2021

Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

7 January 2021

Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb.

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

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%2FNG0894-513

7 January 2021

Structure of the gene for human coagulation factor V

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

7 January 2021

DNA sequence of the human apolipoprotein B gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

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%2FNG0894-513

7 January 2021

Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

7 January 2021

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

7 January 2021

Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

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%2FNG0894-513

7 January 2021

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

7 January 2021

Removal of repeated sequences from hybridisation probes

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

7 January 2021

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

7 January 2021

Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

7 January 2021

The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-513

7 January 2021

Identifiers

DOI

10.1038/NG0894-513

1 reference

8 February 2018

Dimensions Publication ID

1018842126

0 references

1 reference

8 February 2018