Article:
“Mutation of a U2 snRNA Gene Causes Global Disruption of Alternative Splicing and Neurodegeneration”
Yichang Jia, John C. Mu, Susan L. Ackerman
Cell, Vol. 148, No. 1-2. (January 2012), pp. 296-308. doi:10.1016/j.cell.2011.11.057
The article can be found here