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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

Related topics

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22 relations
AKR1B1 geneAR wt AlleleAtrophy, Muscular, SpinobulbarBulbar weakness

Papers overview

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Highly Cited
2008
Highly Cited
2008
Frontal paralimbic network atrophy in very mild behavioral variant frontotemporal dementia.
BACKGROUND Behavioral variant frontotemporal dementia (bvFTD) strikes hardest at the frontal lobes, but the sites of earliest… 
Review
2007
Review
2007
Toxicological profile for lead
This toxicological profile is prepared in accordance with guidelines developed by the Agency for Toxic Substances and Disease… 
Highly Cited
2005
Highly Cited
2005
Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy.
Highly Cited
2005
Highly Cited
2005
17-AAG, an Hsp90 inhibitor, ameliorates polyglutamine-mediated motor neuron degeneration
Heat-shock protein 90 (Hsp90) functions as part of a multichaperone complex that folds, activates and assembles its client… 
Highly Cited
2003
Highly Cited
2003
Mutations in Dynein Link Motor Neuron Degeneration to Defects in Retrograde Transport
Degenerative disorders of motor neurons include a range of progressive fatal diseases such as amyotrophic lateral sclerosis (ALS… 
Review
2002
Review
2002
Polyglutamine Pathogenesis Emergence of Unifying Mechanisms for Huntington's Disease and Related Disorders
Highly Cited
2000
Highly Cited
2000
CREB-binding protein sequestration by expanded polyglutamine.
Spinal and bulbar muscular atrophy (SBMA) is one of eight inherited neurodegenerative diseases known to be caused by CAG repeat… 
Highly Cited
1993
Highly Cited
1993
Local Denervation Atrophy of Paraspinal Muscles in Postoperative Failed Back Syndrome
Impairment and disability after back surgery is a common diagnostic and therapeutic problem. For the most part the reasons are… 
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
1980
Highly Cited
1980
The clinical features of hereditary motor and sensory neuropathy types I and II.
Observations have been made on a series of 228 patients with hereditary motor and sensory neuropathy, comprising 120 index cases… 
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