Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

SPINOCEREBELLAR ATAXIA 21

Known as: SCA21 
National Institutes of Health

Related topics

Related topics

23 relations
Abnormality of extrapyramidal motor functionAggressive behaviorAkinesiaApathy
Expand

Broader (1)

Spinocerebellar Degeneration

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Neural-specific distribution of transmembrane protein TMEM240 and formation of TMEM240-Body.
Mutation in TMEM240 is suggested to cause SCA21, but the specific mechanism has not been clarified. The subcellular localization… Expand
2020
2020
The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals
A variety of missense mutations and a stop mutation in the gene coding for transmembrane protein 240 ( TMEM240 ) have been… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
2019
2019
Isolation and characterization of bioactive compounds with antibacterial, antioxidant and enzyme inhibitory activities from marine-derived rare actinobacteria, Nocardiopsis sp. SCA21.
A rare actinobacteria strain designated SCA21, producing bioactive metabolites was isolated from marine sediment of Havelock… Expand
Review
2019
Review
2019
The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.
Spinocerebellar ataxia type 21 (SCA21/ATX-TMEM240) was recently found to be caused by mutations in TMEM240, with still limited… Expand
2015
2015
Cognition in SCA21 reflects developmental and adult onset cerebellar cognitive affective syndrome.
Sir, We read with interest the article by Delplanque et al. (2014) entitled: ‘TMEM240 mutations cause spinocerebellar ataxia… Expand
  • table 1
2014
2014
Spinocerebellar Ataxia 21 with Retardation
Investigators at Universite de Lille Nord de France, and other centers in France, report the identification of a novel causative… Expand
2008
2008
Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21)
Spinocerebellar ataxia 21 is a slowly progressive and mild ataxia associated with extrapyramidal signs. Affected subjects exhibit… Expand
  • table I
  • figure 1
  • figure 2
2004
2004
A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12–8q12.1
The recent barrage of linkage assignments and gene discoveries has confirmed the clinical and genetic heterogeneity of ataxic… Expand
  • table 1
  • figure 1
  • figure 2
  • table 2
2003
2003
Identification d'un nouveau locus responsable d'une ataxie spinocérébelleuse héréditaire (SCA21) : approche gène-candidat
Highly Cited
2002
Highly Cited
2002
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3‐p15.1
We investigated a French family with a new type of autosomal dominant spinocerebellar ataxia that was excluded from all… Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE