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Disord."},{"key":"10.1016\/j.nbd.2011.08.021_bb0380","unstructured":"Weber, M., in press. Familial ALS patients with SOD mutations in Switzerland show very diverse phenotypes and extreme long survival. J. Neurol. Neurosurg. Psychiatry. June 23. [Epub ahead of print]."},{"key":"10.1016\/j.nbd.2011.08.021_bb0385","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1038\/sj.onc.1206150","article-title":"Ataxin-2 promotes apoptosis of human neuroblastoma cells","volume":"22","author":"Wiedemeyer","year":"2003","journal-title":"Oncogene"},{"key":"10.1016\/j.nbd.2011.08.021_bb0390","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1002\/mds.10715","article-title":"SCA2 presenting as levodopa-responsive parkinsonism in a young patient from the United Kingdom: a case report","volume":"19","author":"Wilkins","year":"2004","journal-title":"Mov. 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