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Brain, ISSN 0006-8950, 2013, Volume 136, Issue 8, pp. 2393 - 2404
Journal Article
Journal Article
Journal Article
Neuropathology and Applied Neurobiology, ISSN 0305-1846, 10/2019, Volume 45, Issue 6, pp. 531 - 537
Journal Article
Journal Article
Molecular Brain, ISSN 1756-6606, 03/2019, Volume 12, Issue 1, pp. 19 - 15
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS [MIM 270550]) is an early-onset neurodegenerative disorder caused by mutations in the SACS... 
SACS | Ataxia | Mouse model | Sacsin | ARSACS, Purkinje cell, cerebellum | DEFECTS | DOMAIN | NEUROSCIENCES | cerebellum | RECESSIVE SPASTIC ATAXIA | GENE | CHARLEVOIX-SAGUENAY | ARSACS | Purkinje cell | DYSFUNCTION | MUTATIONS | EXPRESSION | Nervous system diseases | Genetic aspects | Phenotypes | Neurodegenerative diseases | Preservation | Neurons | Kinases | Proteins | Genotype & phenotype | Missense mutation | Purkinje cells | Mutation | Bioinformatics | Age
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 03/2013, Volume 34, Issue 3, pp. 525 - 537
Journal Article