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FASEB journal : official publication of the Federation of American Societies for Experimental Biology, ISSN 0892-6638, 02/2019, Volume 33, Issue 2, pp. 2982 - 2994
Loss of sacsin, a large 520 kDa multidomain protein, causes autosomal recessive spastic ataxia of the Charlevoix-Saguenay, one of the most common... 
rare neurological diseases | cytoskeleton | chaperone proteins | MOTOR-NEURONS | MUTANT | MARIE-TOOTH-DISEASE | NEUROFILAMENT PROTEIN | FRIEDREICHS-ATAXIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | STRESS-RESPONSE | RECESSIVE SPASTIC ATAXIA | CELL BIOLOGY | HEAT-SHOCK PROTEINS | BIOLOGY | ACIDIC PROTEIN | RADIAL GROWTH
Journal Article
Science, ISSN 0036-8075, 6/2013, Volume 340, Issue 6139, pp. 1451 - 1455
Journal Article
Journal Article
Molecular Cell, ISSN 1097-2765, 2007, Volume 26, Issue 6, pp. 795 - 809
Journal Article
Journal Article
Acta Crystallographica Section A Foundations and Advances, ISSN 2053-2733, 08/2014, Volume 70, Issue a1, pp. C827 - C827
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disorder caused by mutations in the SACS gene. It was... 
Journal Article
Acta Crystallographica Section A Foundations and Advances, ISSN 2053-2733, 08/2014, Volume 70, Issue a1, pp. C838 - C838
Mutations in the gene park2 that codes for a RING-In-Between-RING (RBR) E3 ubiquitin ligase are responsible for an autosomal recessive form of Parkinson's... 
Journal Article
Acta Crystallographica Section F, ISSN 1744-3091, 10/2012, Volume 68, Issue 10, pp. 1158 - 1163
Journal Article
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