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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… 
National Institutes of Health

Related topics

Related topics

4 relations
Cell MovementCytokinesisMuscle ContractionRegulation of Cell Shape

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype
2016
2016
What Side Are We On? A Call to Arms to the Asian American Community
INTRODUCTION .......................................................................................... 169 I. THE COMPLICATED… 
Highly Cited
2010
Highly Cited
2010
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds
Background At least 28 loci have been linked to autosomal dominant spinocerebellar ataxia (ADCA). Causative genes have been… 
2010
2010
ABRAHAM LINCOLN MAY HAVE HAD SCA TYPE 5
In his recent Historical Neurology article, Dr. Sotos1 concludes that it is highly unlikely that President Lincoln inherited the… 
Review
2009
Review
2009
Abraham Lincoln did not have type 5 spinocerebellar ataxia
An autosomal dominant genetic disorder, type 5 spinocerebellar ataxia (SCA5), occurs in multiple descendants of one paternal… 
2007
2007
Screening of the SPTBN2 (SCA5) gene in German SCA patients
AbstractThe spinocerebellar ataxias (SCAs) with autosomal dominant inheritance are a clinically and genetically heterogeneous… 
Highly Cited
1999
Highly Cited
1999
Clinical and MRI findings in spinocerebellar ataxia type 5
Article abstract Spinocerebellar ataxia type 5 (SCA5), one of the genetically heterogeneous autosomal dominant cerebellar ataxias… 
Review
1999
Review
1999
[Spinocerebellar ataxia type 5 (SCA5)].
What is spinocerebellar ataxia type 5? Spinocerebellar ataxia type 5 is one specifi c type of ataxia among a group of inherited… 
Highly Cited
1998
Highly Cited
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… 
1997
1997
Should spinocerebellar ataxia type 5 be called Lincoln ataxia?
In the past few years, genetic characterization has assigned seven chromosomal loci-designated as spinocerebellar ataxia (SCA… 
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