An unusual case of a spasticity-lacking phenotype with a novel SACS mutation
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference15 articles.
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2. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF;Engert;Nat Genet,2000
3. Autosomal recessive spastic ataxia of Charlevoix–Saguenay;Takiyama;Neuropathology,2006
4. Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon;Ouyang;Neurology,2006
5. Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia;Criscuolo;Mov Disord,2005
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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. A Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature;Frontiers in Neurology;2022-03-21
3. Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration;International Journal of Molecular Sciences;2022-01-04
4. 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
5. Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families;Neuroscience Letters;2021-05
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