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… (More)
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
A major recent discovery was the identification of an expansion of a non-coding GGGGCC hexanucleotide repeat in the C9ORF72 gene… (More)
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Highly Cited
2008
Highly Cited
2008
BACKGROUND Behavioral variant frontotemporal dementia (bvFTD) strikes hardest at the frontal lobes, but the sites of earliest… (More)
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Highly Cited
2006
Highly Cited
2006
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset motoneuron disease caused by a CAG-repeat expansion in the androgen… (More)
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Highly Cited
2005
Highly Cited
2005
Heat-shock protein 90 (Hsp90) functions as part of a multichaperone complex that folds, activates and assembles its client… (More)
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Highly Cited
2003
Highly Cited
2003
Degenerative disorders of motor neurons include a range of progressive fatal diseases such as amyotrophic lateral sclerosis (ALS… (More)
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Review
2002
Review
2002
The mechanisms of neurodegeneration in the CAG repeat polyglutamine diseases, including Spinal and Bulbar Muscular Atrophy (SBMA… (More)
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Highly Cited
2002
Highly Cited
2002
Spinal and bulbar muscular atrophy (SBMA) is an X-linked, adult-onset, neurodegenerative disorder affecting only males and is… (More)
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Highly Cited
2000
Highly Cited
2000
Spinal and bulbar muscular atrophy (SBMA) is one of eight inherited neurodegenerative diseases known to be caused by CAG repeat… (More)
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Highly Cited
1993
Highly Cited
1993
Impairment and disability after back surgery is a common diagnostic and therapeutic problem. For the most part the reasons are… (More)
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Highly Cited
1980
Highly Cited
1980
Observations have been made on a series of 228 patients with hereditary motor and sensory neuropathy, comprising 120 index cases… (More)
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