Blar i Department of Biomedicine på forfatter "Pakdaman, Yasaman"
-
In-vitro characterization of STUB1 mutations in recessively inherited spinocerebellar ataxia-16
Pakdaman, Yasaman (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 ...