Blar i Faculty of Medicine på emneord "Autosomal Recessive Cerebellar Ataxia"
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In-vitro characterization of STUB1 mutations in recessively inherited spinocerebellar ataxia-16
(Master thesis, 2016-05-31)Autosomal Recessive Cerebellar Ataxia (ARCA) develops as a result of inefficient protein turnover and further accumulation of damaged proteins inside the cells. Some of mutations associated with ARCA are identified in the ...