Associated Papers
Genetic Alterations in Atypical Cerebral Palsy Identified Through Chromosomal Microarray and Exome Sequencing.
Han JY et al.
International Journal of Molecular Sciences, 2025
Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.
da Graça FF et al.
Cerebellum (london, England), 2022
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
Park J et al.
Molecular Genetics & Genomic Medicine, 2019
A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient.
Liu L et al.
Journal of the Neurological Sciences, 2016
Ataxia of Charlevoix-Saguenay: MR and Clinical Results in Lower-Limb Musculature.
Gazulla J et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2014
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Romano A et al.
Human Mutation, 2013
New findings in the ataxia of Charlevoix-Saguenay.
Gazulla J et al.
Journal of Neurology, 2012
Is the ataxia of Charlevoix-Saguenay a developmental disease?
Gazulla J et al.
Medical Hypotheses, 2011
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Bouhlal Y et al.
Parkinsonism & Related Disorders, 2011
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.
Kamada S et al.
Journal of Neurology, 2008
Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X.
Yamamoto Y et al.
Journal of Neurology, 2006
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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