Article

Molecular and electrophysiological features of spinocerebellar ataxia type seven in induced pluripotent stem cells

2018-03-25

Abstract excerpt

Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by a polyglutamine repeat expansion in the ATXN7 gene. Patients with this disease suffer from a degeneration of their cerebellar Purkinje neurons and retinal photoreceptors that result in a progressive ataxia and loss of vision. As with many neurodegenerative diseases, studies of pathogenesis have been hindered by a lack of dise...

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Literature Corpus work: da3125da-1199-52d4-8b10-876618111947
DOI: 10.1101/288480

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