Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p (Q28250966)

1

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K Sato

3

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T Shirayama

4

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E Ohsaki

5

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M Bundo

6

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T Takeda

7

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K Tadokoro

8

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I Kondo

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N Murayama

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

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language of work or name

English

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publication date

January 1994

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published in

Nature Genetics

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volume

6

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issue

1

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page(s)

14-8

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cites work

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The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

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Sequence identification of 2,375 human brain genes

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A transcriptional analysis of the gene encoding mouse U7 small nuclear RNA

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

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Combined degeneration of globus pallidus and dentate nucleus and their projections.

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Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy

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

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

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

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Cloning of the essential myotonic dystrophy region and mapping of the putative defect

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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.

21 January 2018

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

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

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Human genes containing polymorphic trinucleotide repeats

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Trinucleotide repeat length instability and age of onset in Huntington's disease

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Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

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

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7 January 2021

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

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7 January 2021

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

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7 January 2021

Fragile X genotype characterized by an unstable region of DNA.

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

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7 January 2021

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

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7 January 2021

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

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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

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

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7 January 2021

Polymerase chain reaction (PCR) for detection of APal polymorphism at the insulin like growth factor II gene (IGF2)

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7 January 2021