FAQ

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

Related topics

Related topics

4 relations
Cell MovementCytokinesisMuscle ContractionRegulation of Cell Shape

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
SPTBN2 wt Allele
Muscle Contraction
Cytokinesis
Cell Movement
Regulation of Cell Shape

Papers overview

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2012
2012
A Family with Spinocerebellar Ataxia Type 5 Found to Have a Novel Missense Mutation within a SPTBN2 Spectrin Repeat
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
Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases.
OBJECTIVE To undertake an updated genetic spectrum analysis in patients with hereditary spinocerebellar ataxia (SCA) in mainland… (More)
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2008
2008
Abnormal expression of glutamate transporter and transporter interacting molecules in prefrontal cortex in elderly patients with schizophrenia.
Glutamate cycling is critically important for neurotransmission, and may be altered in schizophrenia. The excitatory amino acid… (More)
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2005
2005
Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes.
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
Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.
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
Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy.
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
Clinical features and genetic analysis of a new form of spinocerebellar ataxia.
BACKGROUND The autosomal dominant cerebellar ataxias (ADCA) are a clinically heterogeneous group of disorders. The mutations for… (More)
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1999
1999
Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.
The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders. The clinical… (More)
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1998
1998
Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia.
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
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.
We present linkage analysis on a large Swedish five-generation family of 15 affected individuals with autosomal dominant… (More)
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