Associated Papers
Proteomics and lipidomic analysis reveal dysregulated pathways associated with loss of sacsin.
Galatolo D et al.
Frontiers in Neuroscience, 2024
38911600 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_S1
Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings.
Pensabene MC et al.
Radiology Case Reports, 2020
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Criscuolo C et al.
Journal of Neurology, 2015
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
Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Vingolo EM et al.
European Journal of Neurology, 2011
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