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Bulbo-Spinal Atrophy, X-Linked

Known as: SMAX1, BULBOSPINAL MUSCULAR ATROPHY, X-LINKED, Spinal And Bulbar Muscular Atrophy, X Linked 1 
A rare, slowly progressive degenerative disorder affecting males. It is caused by mutations in the androgen receptor (AR) gene. It is characterized… 
National Institutes of Health

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22 relations
AKR1B1 geneAR wt AlleleAtrophy, Muscular, SpinobulbarBulbar weakness

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2006
Highly Cited
2006
JNK mediates pathogenic effects of polyglutamine-expanded androgen receptor on fast axonal transport
Expansion of the polyglutamine (polyQ) stretch in the androgen receptor (AR) protein leads to spinal and bulbar muscular atrophy… 
Highly Cited
2005
Highly Cited
2005
Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients.
Spinal and bulbar muscular atrophy (SBMA) is an inherited adult onset motor neuron disease caused by the expansion of a… 
Highly Cited
2004
Highly Cited
2004
The androgen receptor gene mutations database (ARDB): 2004 update
The original article to which this Erratum refers was published in Human Mutation 23:527–533Human Mutation(2004) 23(6) 527–533 
Highly Cited
2004
Highly Cited
2004
Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy.
Spinal and bulbar muscular atrophy (SBMA) is an inherited motor neuron disease caused by the expansion of a polyglutamine (polyQ… 
Highly Cited
2003
Highly Cited
2003
Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset motor neuron disease that affects males. It is caused by the… 
Highly Cited
1999
Highly Cited
1999
Formation of polyglutamine inclusions in non-CNS tissue.
Huntington's disease (HD) is one of a class of inherited progressive neurodegenerative disorders that are caused by a CAG… 
Highly Cited
1998
Highly Cited
1998
Nuclear Inclusions in Glutamine Repeat Disorders Are They Pernicious, Coincidental, or Beneficial?
Highly Cited
1993
Highly Cited
1993
Reduced transcriptional regulatory competence of the androgen receptor in X–linked spinal and bulbar muscular atrophy
Expansion of the long (CAG; glutamine)n repeat in the first exon of the X–linked human androgen receptor gene (hAR) causes spinal… 
Highly Cited
1982
Highly Cited
1982
X-linked recessive bulbospinal neuronopathy: a report of ten cases.
A form of adult onset 'bulbospinal muscular atrophy' of X-linked recessive inheritance is described in 10 patients from eight… 
Highly Cited
1979
Highly Cited
1979
ABNORMAL INTESTINAL PERMEABILITY TO SUGARS IN VILLOUS ATROPHY
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