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Spinocerebellar Ataxia Type 4

Known as: Type 4 Spinocerebellar Ataxia, SCA4, SPINOCEREBELLAR ATAXIA, AUTOSOMAL DOMINANT, WITH SENSORY AXONAL NEUROPATHY 
National Institutes of Health

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6 relations

Broader (1)

Ataxia, Spinocerebellar
Autosomal dominant inheritanceCerebellar atrophyDysarthriaProgressive cerebellar ataxia

Papers overview

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2016
2016
R vs. S fluoroproline ring substitution: trans/cis effects on the formation of b2 ions in gas-phase peptide fragmentation.
The b2 structures of model systems Xxx-Flp-Ala (Flp = 4R-fluoroproline) and Xxx-flp-Ala (flp = 4S-fluoroproline) (where Xxx is… 
2012
2012
Conformational study of the hydroxyproline-O-glycosidic linkage: sugar-peptide orientation and prolyl amide isomerization in (α/β)-galactosylated 4(R/S)-hydroxyproline.
Glycosylation is a frequent post-translational modification of proteins that has been shown to influence protein structure and… 
2011
2011
Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic
Autosomal dominant spinocerebellar ataxias (SCAs) are heterogeneous neurological disorders characterised by cerebellar… 
2006
2006
Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese
Chromosome 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is strongly associated with a substitution in the… 
2004
2004
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families
Abstract.The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders. To… 
2003
2003
Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan
AbstractAutosomal dominant cerebellar ataxia (ADCA) is a group of heterogeneous neurodegenerative disorders. We previously mapped… 
Review
2002
Review
2002
Spinocerebellar ataxia type 10: a disease caused by a large ATTCT repeat expansion.
Spinocerebellar ataxia type 10 (SCA 1 0) is an autosomal dominant disease characterized by ataxia and seizures. 1-3 It belongs to… 
Review
1999
Review
1999
[Autosomal dominant spinocerebellar ataxia].
The autosomal dominant spinocerebellar ataxias (SCA) are a heterogeneous group of degenerative diseases presenting with ataxic… 
1999
1999
[Clinico-genetic study of type I spinocerebelllar ataxia].
Inherited, autosomal-dominant cerebellar ataxia (ADCA) comprises a genetically and clinically heterogenous group of… 
1997
1997
Hereditary Ataxia with Sensory Neuronopathy
We report the case of a man with late-onset hereditary ataxia and sensory loss. Three of his sisters were affected by a similar… 
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