Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. (Q34405223)

2 August 2017

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

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2 August 2017

spinocerebellar ataxia

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12

Rouleau GA

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2 August 2017

Pulst SM

1

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2 August 2017

Nechiporuk A

2

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2 August 2017

Nechiporuk T

3

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2 August 2017

Gispert S

4

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2 August 2017

Chen XN

5

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2 August 2017

Lopes-Cendes I

6

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2 August 2017

Pearlman S

7

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2 August 2017

Starkman S

8

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2 August 2017

Orozco-Diaz G

9

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2 August 2017

Lunkes A

10

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2 August 2017

DeJong P

11

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2 August 2017

Auburger G

13

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2 August 2017

Korenberg JR

14

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2 August 2017

Figueroa C

15

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2 August 2017

Sahba S

16

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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

14

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2 August 2017

3

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2 August 2017

269-276

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https://scigraph.springernature.com/pub.10.1038/ng1196-269

2 August 2017

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

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

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

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Mechanisms of DNA expansion

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Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH.

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

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

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

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

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Anticipation in spinocerebellar ataxia type 2

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

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

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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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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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Improved nearest-neighbor parameters for predicting DNA duplex stability

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

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

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7 January 2021

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

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

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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

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2 August 2017

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