Associated Papers
Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy.
Dibilio V et al.
Cerebellum (london, England), 2013
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Romano A et al.
Human Mutation, 2013
Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.
Prodi E et al.
European Journal of Neurology, 2013
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Bouhlal Y et al.
Parkinsonism & Related Disorders, 2011
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
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
Vermeer S et al.
Neurogenetics, 2008
Distinct phenotypes within autosomal recessive ataxias not linked to already known loci.
Bouhlal Y et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2005
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