Torsin, torsin-related genes and methods of detecting neuronal disease
   
   

The present invention relates to methods of detecting mutations and polymorphisms in the torsin gene, torsin-related genes, methods of detecting neuronal diseases mediated by these mutations and polymorphisms and nucleic acids used in these methods.

 
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> Purified 20 kDA presenilin 2 C-terminal fragment and methods of screening for compounds that inhibit proteolysis of presenilin 2
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