Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach. (Q52840728)

8 May 2018

title

Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach. (English)

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8 May 2018

spinocerebellar ataxia type 17

main subject

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10

Olaf Riess

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8 May 2018

Ludger Schöls

5

object named as

Ludger Schöls

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8 May 2018

author name string

Jürgen Tomiuk

1

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8 May 2018

Lutz Bachmann

2

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8 May 2018

Claudia Bauer

3

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8 May 2018

Arndt Rolfs

4

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Christian Roos

6

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Hans Zischler

7

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8 May 2018

Mathias M Schuler

8

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8 May 2018

Silke Bruntner

9

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Peter Bauer

11

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8 May 2018

publication date

11 October 2006

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European Journal of Human Genetics

published in

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volume

15

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issue

1

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page(s)

81-87

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8 May 2018

The spinocerebellar ataxias: order emerges from chaos

cites work

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SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

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CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms

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Biased mutations and microsatellite variation

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Equilibrium distributions of microsatellite repeat length resulting from a balance between slippage events and point mutations

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Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes

21 January 2018

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Microsatellite and trinucleotide-repeat evolution: evidence for mutational bias and different rates of evolution in different lineages

21 January 2018

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Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes

21 January 2018

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Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

21 January 2018

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Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

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Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.

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SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6.

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

21 January 2018

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Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

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Codon repeats in genes associated with human diseases: fewer repeats in the genes of nonhuman primates and nucleotide substitutions concentrated at the sites of reiteration

21 January 2018

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The relationship between microsatellite slippage mutation rate and the number of repeat units

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A threshold size for microsatellite expansion

21 January 2018

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Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes

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Phylogenetic analysis of the Friedreich ataxia GAA trinucleotide repeat.

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Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

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Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes

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SCA17 homozygote showing Huntington's disease-like phenotype.

21 January 2018

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Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?

21 January 2018

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Intergenerational instability and marked anticipation in SCA-17

21 January 2018

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Dynamic mutations on the move in Banff

21 January 2018

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7 January 2021

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7 January 2021

A model of mutation appropriate to estimate the number of electrophoretically detectable alleles in a finite population

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A maximum-likelihood approach to fitting equilibrium models of microsatellite evolution

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7 January 2021

Microsatellite evolution--evidence for directionality and variation in rate between species

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7 January 2021

A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

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7 January 2021

Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease

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7 January 2021

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201721

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8 May 2018

1 reference

8 May 2018