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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… Expand
National Institutes of Health

Papers overview

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2014
2014
Although many genes have been identified for the autosomal recessive cerebellar ataxias (ARCAs), several patients are unlinked to… Expand
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2014
2014
Beta III spectrin is present throughout the elaborate dendritic tree of cerebellar Purkinje cells and is required for normal… Expand
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2010
2010
BACKGROUND At least 28 loci have been linked to autosomal dominant spinocerebellar ataxia (ADCA). Causative genes have been… Expand
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Highly Cited
2008
Highly Cited
2008
Glutamate cycling is critically important for neurotransmission, and may be altered in schizophrenia. The excitatory amino acid… Expand
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2006
2006
The excitatory amino acid transporters (EAATs) are a family of plasma membrane proteins that maintain synaptic glutamate… Expand
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2005
2005
An increasing number of genetically defined types of spinocerebellar ataxia (SCA) have been reported in the past decade… Expand
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Review
2004
Review
2004
Abstract—The authors report a German family with autosomal dominant cerebellar ataxia tightly linked to the spinocerebellar… Expand
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2001
2001
BACKGROUND The autosomal dominant cerebellar ataxias (ADCA) are a clinically heterogeneous group of disorders. The mutations for… Expand
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1999
1999
Spinocerebellar ataxia type 5 (SCA5), one of the genetically heterogeneous autosomal dominant cerebellar ataxias, was assigned to… Expand
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1998
1998
OBJECTIVE To characterize a distinct form of spinocerebellar ataxia (SCA) clinically and genetically. BACKGROUND The SCAs are a… Expand
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