Abnormal gene product identified in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) brain (Q24324461)

dentatorubral-pallidoluysian atrophy

GOA release 2020-03-11

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14 July 2024

author name string

I. Yazawa

1

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14 July 2024

N. Nukina

2

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14 July 2024

H. Hashida

3

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14 July 2024

J. Goto

4

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14 July 2024

M. Yamada

5

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14 July 2024

I. Kanazawa

6

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full work available at URL

14 July 2024

language of work or name

English

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publication date

May 1995

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http://www.nature.com/articles/ng0595-99

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https://api.crossref.org/works/10.1038/NG0595-99

http://www.nature.com/articles/ng0595-99.pdf

14 July 2024

file format

Portable Document Format

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https://api.crossref.org/works/10.1038/NG0595-99

14 July 2024

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10

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issue

1

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page(s)

99-103

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cites work

Unusual form of cerebellar ataxia; combined dentato-rubral and pallido-Luysian degeneration

1 reference

Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy

21 January 2018

1 reference

DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation

21 January 2018

1 reference

Hereditary dentatorubral-pallidoluysian atrophy: Clinical and pathologic variants in a family

21 January 2018

1 reference

7 January 2021

Anticipation in hereditary dentatorubral-pallidoluysian atrophy

1 reference

7 January 2021

The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family

1 reference

7 January 2021

Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus

1 reference

7 January 2021

Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

1 reference

7 January 2021

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

1 reference

7 January 2021

Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE

1 reference

7 January 2021

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

1 reference

7 January 2021

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

1 reference

7 January 2021

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

1 reference

7 January 2021

Myotonic dystrophy kinase is a component of neuromuscular junctions

1 reference

7 January 2021

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

1 reference

7 January 2021

Huntington's disease gene (IT15) is widely expressed in human and rat tissues

1 reference

7 January 2021

Characterization and localization of the Huntington disease gene product

1 reference

7 January 2021

Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy

1 reference

7 January 2021

Dynamic mutations hit double figures

1 reference

7 January 2021

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

1 reference

7 January 2021

A common RNA recognition motif identified within a defined U1 RNA binding domain of the 70K U1 snRNP protein

1 reference

7 January 2021

Androgen receptor abnormality in X-linked spinal and bulbar muscular atrophy

1 reference

7 January 2021

FMR1 Protein: Conserved RNP Family Domains and Selective RNA Binding

1 reference

7 January 2021

The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

1 reference

7 January 2021

Dimensions Publication ID

Identifiers

DOI

10.1038/NG0595-99

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1027998653

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