(Q34405223)

2 August 2017

title

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. (English)

1 reference

2 August 2017

main subject

spinocerebellar ataxia

1 reference

12

Rouleau GA

1 reference

2 August 2017

Pulst SM

1

1 reference

2 August 2017

Nechiporuk A

2

1 reference

2 August 2017

Nechiporuk T

3

1 reference

2 August 2017

Gispert S

4

1 reference

2 August 2017

Chen XN

5

1 reference

2 August 2017

Lopes-Cendes I

6

1 reference

2 August 2017

Pearlman S

7

1 reference

2 August 2017

Starkman S

8

1 reference

2 August 2017

Orozco-Diaz G

9

1 reference

2 August 2017

Lunkes A

10

1 reference

2 August 2017

DeJong P

11

1 reference

2 August 2017

Auburger G

13

1 reference

2 August 2017

Korenberg JR

14

1 reference

2 August 2017

Figueroa C

15

1 reference

2 August 2017

Sahba S

16

1 reference

2 August 2017

language of work or name

English

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publication date

1 November 1996

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2 August 2017

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2 August 2017

volume

14

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2 August 2017

issue

3

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2 August 2017

page(s)

269-276

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Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.

2 August 2017

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

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Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

21 January 2018

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Identification of three new microsatellite markers in the spinocerebellar ataxia type 2 (SCA2) region and 1.2 Mb physical map.

21 January 2018

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Trinucleotide repeats that expand in human disease form hairpin structures in vitro

21 January 2018

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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.

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

21 January 2018

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Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family.

21 January 2018

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Mechanisms of DNA expansion

21 January 2018

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Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH.

21 January 2018

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Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo

21 January 2018

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A huntingtin-associated protein enriched in brain with implications for pathology

21 January 2018

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A first-generation physical map of the human genome

21 January 2018

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Prevalence and occurrence of some rare neurological diseases in Iceland

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%2FNG1196-269

7 January 2021

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

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7 January 2021

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

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7 January 2021

Anticipation in spinocerebellar ataxia type 2

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7 January 2021

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

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7 January 2021

Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12

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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

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

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

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7 January 2021

Improved nearest-neighbor parameters for predicting DNA duplex stability

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7 January 2021

Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3

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7 January 2021

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

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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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https://api.crossref.org/works/10.1038%2FNG1196-269

7 January 2021

De novo expansion of a (CAG)n repeat in sporadic Huntington's disease

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https://api.crossref.org/works/10.1038%2FNG1196-269

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-269

7 January 2021

Yeast artificial chromosomes: an alternative approach to the molecular analysis of mouse developmental mutations

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7 January 2021

Human cDNA mapping using a high-resolution R-banding technique and fluorescence in situ hybridization

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7 January 2021

Alternative transcripts in the mouse neurofibromatosis type 2 (NF2) gene are conserved and code for schwannomins with distinct C-terminal domains

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7 January 2021

Identifiers

DOI

10.1038/NG1196-269

1 reference

2 August 2017

1 reference