Associated Papers
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Romano A et al.
Human Mutation, 2013
23280630 (PubMed )
Supplement: humu0034-0525-SD1.pdf
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.
Fogel BL et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
Novel mutations in the sacsin gene in ataxia patients from Maritime Canada.
Guernsey DL et al.
Journal of the Neurological Sciences, 2010
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
Vermeer S et al.
The Journal of Molecular Diagnostics : Jmd, 2009
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