New mutation in the non-gigantic exon ofSACS in Japanese siblings
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Reference5 articles.
1. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
2. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF
3. ARSACS goes global
4. Sacsin-related ataxia (ARSACS): Expanding the genotype upstream from the gigantic exon
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1. Sacs R272C missense homozygous mice develop an ataxia phenotype;Molecular Brain;2019-03-12
2. Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations;Journal of Biological Chemistry;2018-08
3. Early-onset axonal Charcot-Marie-Tooth disease due to SACS mutation;Neuromuscular Disorders;2018-02
4. Spastic ataxias;The Cerebellum: Disorders and Treatment;2018
5. SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia;Microarrays;2015-10-23
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