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

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22 relations
AKR1B1 geneAR wt AlleleAtrophy, Muscular, SpinobulbarBulbar weakness
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Papers overview

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Highly Cited
2012
Highly Cited
2012
Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics
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
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… (More)
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Highly Cited
2006
Highly Cited
2006
Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients.
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
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… (More)
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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… (More)
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Review
2002
Review
2002
Polyglutamine Pathogenesis Emergence of Unifying Mechanisms for Huntington's Disease and Related Disorders
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
Androgen-Dependent Neurodegeneration by Polyglutamine-Expanded Human Androgen Receptor in Drosophila
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
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… (More)
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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… (More)
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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… (More)
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