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SPINOCEREBELLAR ATAXIA 21

Known as: SCA21 
 
National Institutes of Health

Papers overview

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2020
2020
Mutation in TMEM240 is suggested to cause SCA21, but the specific mechanism has not been clarified. The subcellular localization… Expand
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2020
2020
A variety of missense mutations and a stop mutation in the gene coding for transmembrane protein 240 ( TMEM240 ) have been… Expand
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2019
2019
A rare actinobacteria strain designated SCA21, producing bioactive metabolites was isolated from marine sediment of Havelock… Expand
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Review
2019
Review
2019
Spinocerebellar ataxia type 21 (SCA21/ATX-TMEM240) was recently found to be caused by mutations in TMEM240, with still limited… Expand
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2015
2015
Sir, We read with interest the article by Delplanque et al. (2014) entitled: ‘TMEM240 mutations cause spinocerebellar ataxia… Expand
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2014
2014
Investigators at Universite de Lille Nord de France, and other centers in France, report the identification of a novel causative… Expand
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2008
2008
Spinocerebellar ataxia 21 is a slowly progressive and mild ataxia associated with extrapyramidal signs. Affected subjects exhibit… Expand
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2004
2004
The recent barrage of linkage assignments and gene discoveries has confirmed the clinical and genetic heterogeneity of ataxic… Expand
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Highly Cited
2002
Highly Cited
2002
We investigated a French family with a new type of autosomal dominant spinocerebellar ataxia that was excluded from all… Expand
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