![Novel variants in the SACS gene in a first Central-Eastern European family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - MDS Abstracts Novel variants in the SACS gene in a first Central-Eastern European family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - MDS Abstracts](https://www.mdsabstracts.org/wp-content/uploads/2016/04/551023_lineage.jpg)
Novel variants in the SACS gene in a first Central-Eastern European family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - MDS Abstracts
![Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature](https://f6publishing.blob.core.windows.net/6ae1b7ea-ed49-4728-810a-2cc3f4b8578c/WJCC-8-1477-g001.png)
Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature
![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_Fig3_HTML.jpg)
A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay | European Journal of Human Genetics
![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 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](https://onlinelibrary.wiley.com/cms/asset/169aa831-f658-4fe2-8e5c-278828f9e41c/ccr3722-fig-0001-m.jpg)
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
![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
Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay | PLOS ONE
![PDF] Autosomal recessive spastic ataxia of Charlevoix-Saguenay in a Portuguese child caused by a novel SACS mutation | Semantic Scholar PDF] Autosomal recessive spastic ataxia of Charlevoix-Saguenay in a Portuguese child caused by a novel SACS mutation | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/314bd6b198a74897ba2263295491662d666a5792/2-Figure1-1.png)
PDF] Autosomal recessive spastic ataxia of Charlevoix-Saguenay in a Portuguese child caused by a novel SACS mutation | Semantic Scholar
![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_Fig4_HTML.jpg)
A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay | European Journal of Human Genetics
![Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature](https://f6publishing.blob.core.windows.net/6ae1b7ea-ed49-4728-810a-2cc3f4b8578c/WJCC-8-1477-g002.png)
Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature
![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
Novel compound heterozygous mutation in <fc>SACS</fc> gene leads to a milder autosomal recessive spastic ataxia of C
![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
![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)