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A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay | European Journal of Human Genetics
![Figure 2 from Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Clinical, Radiological and Epidemiological Aspects | Semantic Scholar Figure 2 from Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Clinical, Radiological and Epidemiological Aspects | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/07db456964438f93bd275e8ac43139d3773edf3c/4-Figure2-1.png)
Figure 2 from Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Clinical, Radiological and Epidemiological Aspects | Semantic Scholar
![Sacsin cotranslational degradation causes autosomal recessive spastic ataxia of Charlevoix-Saguenay | bioRxiv Sacsin cotranslational degradation causes autosomal recessive spastic ataxia of Charlevoix-Saguenay | bioRxiv](https://www.biorxiv.org/content/biorxiv/early/2021/03/17/2021.03.16.435646/F1.large.jpg)
Sacsin cotranslational degradation causes autosomal recessive spastic ataxia of Charlevoix-Saguenay | bioRxiv
![A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay | European Journal of Human Genetics A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay | European Journal of Human Genetics](https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fejhg.2008.58/MediaObjects/41431_2008_Article_BFejhg200858_Fig2_HTML.jpg)
A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay | European Journal of Human Genetics
![R272C Sacs knock-in mice. (a) Schematic representation of mouse sacsin... | Download Scientific Diagram R272C Sacs knock-in mice. (a) Schematic representation of mouse sacsin... | Download Scientific Diagram](https://www.researchgate.net/publication/331725855/figure/fig1/AS:736176482816000@1552529559358/R272C-Sacs-knock-in-mice-a-Schematic-representation-of-mouse-sacsin-protein-domains-as.png)
R272C Sacs knock-in mice. (a) Schematic representation of mouse sacsin... | Download Scientific Diagram
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Pharmaceuticals | Free Full-Text | Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review
![Primary structure of the SACS gene (A) and domain organization of the... | Download Scientific Diagram Primary structure of the SACS gene (A) and domain organization of the... | Download Scientific Diagram](https://www.researchgate.net/publication/224830353/figure/fig2/AS:302759984287750@1449195013621/Primary-structure-of-the-SACS-gene-A-and-domain-organization-of-the-sacsin-protein-B.png)
Primary structure of the SACS gene (A) and domain organization of the... | Download Scientific Diagram
![SACS mutations. Graphical overview of mutations found in this and other... | Download Scientific Diagram SACS mutations. Graphical overview of mutations found in this and other... | Download Scientific Diagram](https://www.researchgate.net/publication/236052003/figure/fig1/AS:213424647741443@1427895809513/SACS-mutations-Graphical-overview-of-mutations-found-in-this-and-other-studies-Human.png)
SACS mutations. Graphical overview of mutations found in this and other... | Download Scientific Diagram
![Primary structure of the SACS gene (A) and domain organization of the... | Download Scientific Diagram Primary structure of the SACS gene (A) and domain organization of the... | Download Scientific Diagram](https://www.researchgate.net/profile/Haruo-Shimazaki/publication/224830353/figure/fig2/AS:302759984287750@1449195013621/Primary-structure-of-the-SACS-gene-A-and-domain-organization-of-the-sacsin-protein-B_Q640.jpg)
Primary structure of the SACS gene (A) and domain organization of the... | Download Scientific Diagram
![Mutation in the SACS gene in the pathogenesis of ARSACS. An absence or... | Download Scientific Diagram Mutation in the SACS gene in the pathogenesis of ARSACS. An absence or... | Download Scientific Diagram](https://www.researchgate.net/publication/361409507/figure/fig2/AS:1168673888829440@1655644976261/Mutation-in-the-SACS-gene-in-the-pathogenesis-of-ARSACS-An-absence-or-deficiency-of-SACS.png)
Mutation in the SACS gene in the pathogenesis of ARSACS. An absence or... | Download Scientific Diagram
![Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Compound Heterozygotes for Nonsense Mutations of the SACS Gene - Vinodh Narayanan, Stephen G. Rice, Shannon S. Olfers, Kumaraswamy Sivakumar, 2011 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Compound Heterozygotes for Nonsense Mutations of the SACS Gene - Vinodh Narayanan, Stephen G. Rice, Shannon S. Olfers, Kumaraswamy Sivakumar, 2011](https://journals.sagepub.com/cms/10.1177/0883073811412825/asset/images/large/10.1177_0883073811412825-fig3.jpeg)
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Compound Heterozygotes for Nonsense Mutations of the SACS Gene - Vinodh Narayanan, Stephen G. Rice, Shannon S. Olfers, Kumaraswamy Sivakumar, 2011
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Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family - Palmio - 2016 - Clinical Case Reports - Wiley Online Library
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IJMS | Free Full-Text | Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish
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IJMS | Free Full-Text | Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration
![A The SACS gene contains ten exons and spans ~ 104 kb. Graphical view... | Download Scientific Diagram A The SACS gene contains ten exons and spans ~ 104 kb. Graphical view... | Download Scientific Diagram](https://www.researchgate.net/publication/361478399/figure/fig3/AS:1169964358742018@1655952648342/A-The-SACS-gene-contains-ten-exons-and-spans104kb-Graphical-view-of-the-Sacsin-protein.png)