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