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-Reference-Cited by-同舟云学术

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

Published:2020-04-26 Issue:8 Volume:8 Page:1477-1488
ISSN:2307-8960
Container-title:World Journal of Clinical Cases
language:
Short-container-title:WJCC

Author:

Al-Ajmi Abdullah,Shamsah Sarah,Janicijevic Aleksandar,Williams Michayla,Al-Mulla Fahd

Publisher

Baishideng Publishing Group Inc.

Subject

General Medicine

Reference35 articles.

1. Charbonneau H, Robert N. The French origins of the Canadian population 1608-1759. Toronto: University of Toronto Press, 1987

2. Electromyography and Nerve Conduction Studies in Friedreich's Ataxia and Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

3. Electroencephalographic Findings in Friedreich's Ataxia and Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

4. Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec

5. Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11

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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. Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the SACS Gene;Journal of Investigative Medicine High Impact Case Reports;2022-01

4. A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay;Neurological Sciences;2021-02-09