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SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14

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

Related topics

Related topics

7 relations
Action TremorAutosomal recessive inheritanceCerebellar atrophyDysdiadochokinesis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia
The term spinocerebellar ataxia encompasses a heterogeneous group of neurodegenerative disorders due to pathogenic variants in… 
2018
2018
Reply to “Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype” by Nuovo et al.
  • H. Bolz
  • European Journal of Human Genetics
  • 2018
  • Corpus ID: 256602577
2018
2018
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype
Review
2017
Review
2017
Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability… 
2016
2016
Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST
Abstract Clinical phenotypes of spinocerebellar ataxia type-5 (SCA5) and spectrin-associated autosomal recessive cerebellar… 
2016
2016
Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST.
Clinical phenotypes of spinocerebellar ataxia type-5 (SCA5) and spectrin-associated autosomal recessive cerebellar ataxia type-1… 
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