se raser linéaire Ressource renouvelable sacs gene Une variante tissu lampe
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
RCSB PDB - 5VSZ: Structure of the Ubl domain of Sacsin mutant L78M
Sacs R272C missense homozygous mice develop an ataxia phenotype | Molecular Brain | Full Text
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
IJMS | Free Full-Text | Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration
Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsinin Neurodegeneration
SACS gene
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
SACS Site Highlights
SACS Gene - GeneCards | SACS Protein | SACS Antibody
Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay | PLOS ONE
SACS Gene - GeneCards | SACS Protein | SACS Antibody
View Image
Untitled
A The SACS gene contains ten exons and spans ~ 104 kb. Graphical view... | Download Scientific Diagram
SACS Gene Associated With CMT-Like Disease in Two Brazilian Patients
ARSACS DNA Test – DNA Access Lab
ARSACS: Genetics and More - 23andMe
A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay | European Journal of Human Genetics
SACS Gene - GeneCards | SACS Protein | SACS Antibody
Assessment of Sacsin Turnover in Patients With ARSACS | Neurology
Assessment of Sacsin Turnover in Patients With ARSACS | Neurology
Sacsin - Wikipedia
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