Associated Papers
Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Liu H et al.
Bmc Medical Genomics, 2025
Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases.
Li X et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Romano A et al.
Human Mutation, 2013
Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays.
H'mida-Ben Brahim D et al.
Journal of Neurology, 2011
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