(Q47619633)

4 February 2018

title

Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world (English)

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4 February 2018

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Lund A

1

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4 February 2018

Udd B

2

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Juvonen V

3

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4 February 2018

Andersen PM

4

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4 February 2018

Cederquist K

5

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4 February 2018

Davis M

6

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Gellera C

7

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Kölmel C

8

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4 February 2018

Ronnevi LO

9

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4 February 2018

Sperfeld AD

10

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4 February 2018

Sörensen SA

11

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4 February 2018

Tranebjaerg L

12

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4 February 2018

Van Maldergem L

13

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4 February 2018

Watanabe M

14

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4 February 2018

Weber M

15

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4 February 2018

Yeung L

16

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Savontaus ML

17

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4 February 2018

publication date

1 June 2001

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4 February 2018

European Journal of Human Genetics

published in

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4 February 2018

volume

9

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4 February 2018

issue

6

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4 February 2018

page(s)

431-436

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4 February 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200656

exact match

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cites work

Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait

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Rethinking genotype and phenotype correlations in polyglutamine expansion disorders

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

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Mouse models of human CAG repeat disorders

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Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy

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7 January 2021

Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy

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Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch.

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Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of 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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7 January 2021

Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia

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Origin of the expansion mutation in myotonic dystrophy

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High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation

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Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations

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Microsatellite mutations in the germline: implications for evolutionary inference

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(CAG)nCAA and GGN repeats in the human androgen receptor gene are not associated with prostate cancer in a French–German population

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7 January 2021

Founder effect in spinal and bulbar muscular atrophy (SBMA)

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200656

7 January 2021

Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene

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7 January 2021

Discordant repeat size and phenotype in Kennedy syndrome.

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7 January 2021

Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry

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Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23–q24.1

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7 January 2021

Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation

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Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease.

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7 January 2021

Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families

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7 January 2021

Mitotic and meiotic stability of the CAG repeat in the X-linked spinal and bulbar muscular atrophy gene

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200656

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4 February 2018

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4 February 2018