SPTBN2 wt Allele

Known as: SCA5, GTRAP41, Spectrin, Beta, Non-Erythrocytic 2 wt Allele 
Human SPTBN2 wild-type allele is located in the vicinity of 11q13.2 and is approximately 44 kb in length. This allele, which encodes spectrin beta… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1994-2014
02419942014

Papers overview

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2012
2012
A family with late-onset autosomal dominant pure cerebellar ataxia, consistent with spinocerebellar ataxia type 5 (SCA5) but… (More)
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2011
2011
OBJECTIVE To undertake an updated genetic spectrum analysis in patients with hereditary spinocerebellar ataxia (SCA) in mainland… (More)
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2008
2008
Glutamate cycling is critically important for neurotransmission, and may be altered in schizophrenia. The excitatory amino acid… (More)
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2005
2005
An increasing number of genetically defined types of spinocerebellar ataxia (SCA) have been reported in the past decade… (More)
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2004
2004
We describe a pedigree of Anglo-Celtic origin with a phenotypically unique form of dominantly inherited spinocerebellar ataxia… (More)
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2002
2002
OBJECTIVE To perform a clinical and molecular study of a large autosomal dominant family with a complex neurologic syndrome that… (More)
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2001
2001
BACKGROUND The autosomal dominant cerebellar ataxias (ADCA) are a clinically heterogeneous group of disorders. The mutations for… (More)
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1999
1999
The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders. The clinical… (More)
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1998
1998
OBJECTIVE To characterize a distinct form of spinocerebellar ataxia (SCA) clinically and genetically. BACKGROUND The SCAs are a… (More)
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1995
1995
We present linkage analysis on a large Swedish five-generation family of 15 affected individuals with autosomal dominant… (More)
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