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Apr 26, 2020 (publication date) through Jun 17, 2024
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Publication Name
World Journal of Clinical Cases
ISSN
2307-8960
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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
| For: | Al-Ajmi A, Shamsah S, Janicijevic A, Williams M, Al-Mulla F. 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 J Clin Cases 2020; 8(8): 1477-1488 [PMID: 32368540 DOI: 10.12998/wjcc.v8.i8.1477] |
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| URL: | https://www.wjgnet.com/2307-8960/full/v8/i8/1477.htm |
| Number | Citing Articles |
| 1 |
Rohan Sharma, Akilandeswari Aravindhan, Clara Puente, Aravindhan Veerapandiyan. Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the SACS Gene. Journal of Investigative Medicine High Impact Case Reports 2022; 10: 232470962211396 doi: 10.1177/23247096221139670
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| 2 |
Jaya Bagaria, Eva Bagyinszky, Seong Soo A. An. Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration. International Journal of Molecular Sciences 2022; 23(1): 552 doi: 10.3390/ijms23010552
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| 3 |
Marjolaine Tremblay, Laura Girard-Côté, Bernard Brais, Cynthia Gagnon. Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome. Orphanet Journal of Rare Diseases 2022; 17(1) doi: 10.1186/s13023-022-02497-1
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| 4 |
Bedia Samanci, Ebru Erzurumluoglu Gokalp, Basar Bilgic, Hakan Gurvit, Sevilhan Artan, Hasmet A. Hanagasi. A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neurological Sciences 2021; 42(7): 2969 doi: 10.1007/s10072-021-05117-1
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