Associated Papers
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
Chan HW et al.
Genes, 2021
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
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