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Spinocerebellar ataxia 14

Known as: SCA14 
National Institutes of Health

Related topics

Related topics

13 relations

Broader (1)

Ataxia, Spinocerebellar
Attention Deficit DisorderAutosomal dominant inheritanceCerebellar atrophyDeglutition Disorders

Papers overview

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Review
2013
Review
2013
Autosomal dominant cerebellar ataxias: A systematic review of clinical features
To assess, through systematic review, distinctive or common clinical signs of autosomal dominant cerebellar ataxias (ADCAs), also… 
Review
2011
Review
2011
Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics
Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by ataxia with other… 
Highly Cited
2008
Highly Cited
2008
PKCγ mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling
Spinocerebellar ataxia type 14 (SCA14) is a neurodegenerative disorder caused by mutations in the neuronal-specific protein… 
Highly Cited
2005
Highly Cited
2005
The clinical and genetic spectrum of spinocerebellar ataxia 14
Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C γ gene (PRKCG), rather than a… 
Highly Cited
2005
Highly Cited
2005
New mutations in protein kinase Cγ associated with spinocerebellar ataxia type 14
Autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurological disorders. Point mutations in the gene… 
Highly Cited
2005
Highly Cited
2005
Mutant Protein Kinase Cγ Found in Spinocerebellar Ataxia Type 14 Is Susceptible to Aggregation and Causes Cell Death*
Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disease characterized by various symptoms… 
2005
2005
A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14
AbstractSpinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder, first described in a Japanese… 
Highly Cited
2004
Highly Cited
2004
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
BACKGROUND Autosomal dominant cerebellar ataxias are a clinical and genetically heterogeneous group of progressive… 
Highly Cited
2004
Highly Cited
2004
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting.
The protein kinase C gamma (PKCgamma) gene is mutated in spinocerebellar ataxia type 14 (SCA14). In this study, we investigated… 
Highly Cited
2003
Highly Cited
2003
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.
BACKGROUND We previously discovered spinocerebellar ataxia type 14 (SCA14) in a single Japanese family with an autosomal dominant… 
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