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See Latest ArticlesAberrant Splicing of the Senataxin Gene in a Patient with Ataxia with Oculomotor Apraxia Type 2
The Cerebellum, 09/10/09
Fogel BL et al. – The authors report the case of an 18–year–old woman, with classic clinical features of AOA2, who was found to harbor a mutation within senataxin intron 16. This mutation disrupts the local 5' splice site architecture via a novel intronic frameshift mechanism, causing skipping of exon 16 with predicted disruption of the conserved DNA/RNA helicase domain. RNA processing mutations expand the growing complexity of pathogenic senataxin mutations.
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Natalizumab treatment in multiple sclerosis: Marked decline of chemokines and cytokines in cerebrospinal fluid
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Today in Movement Disorders...keeping you current
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