Investigation into the pathogenesis of Spinocerebellar Ataxia Type 5
Mutations in SPTBN2, the gene encoding b-III spectrin, give rise to spinocerebellar ataxia type 5 (SCA5), an autosomal dominant neurodegenerative disease characterized by motor incoordination and cerebellar degeneration. The work reported in this thesis addressed possible mechanisms of disease patho...
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University of Edinburgh
2010
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.633892 |