SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14

Known as: CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, SPECTRIN-ASSOCIATED, 1, SCAR14, SPARCA1 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2012-2016
01220122016

Papers overview

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2017
2017
b-III spectrin is present in the brain and is known to be important in the function of the cerebellum. Heterozygous mutations in… (More)
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Review
2017
Review
2017
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability… (More)
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Review
2016
Review
2016
Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of disorders all characterised by postural abnormalities… (More)
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2016
2016
Clinical phenotypes of spinocerebellar ataxia type-5 (SCA5) and spectrin-associated autosomal recessive cerebellar ataxia type-1… (More)
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2012
2012
β-III spectrin is present in the brain and is known to be important in the function of the cerebellum. Heterozygous mutations in… (More)
  • figure 1
  • figure 2
  • table 2
  • figure 3
  • table 3
Is this relevant?