Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
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Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference30 articles.
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3. Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11;A Richter;Am J Hum Genet,1999
4. Diversity of ARSACS mutations in French-Canadians;I Thiffault;Can J Neurol Sci,2013
5. [Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature];M Anheim;Rev Neurol (Paris),2008
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1. Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome;Orphanet Journal of Rare Diseases;2022-10-01
2. Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration;International Journal of Molecular Sciences;2022-01-04
3. Ataxia;Principles and Practice of Movement Disorders;2021
4. Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay;Journal of the Neurological Sciences;2020-10
5. 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;World Journal of Clinical Cases;2020-04-26
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