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• W2545910533 abstract "Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare disorder outside Quebec causing childhood-onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of ARSACS was found to harbor three mutations, p.E1100K, p.N1489S, and p.M1359T, in SACS gene. The mutations segregated with the disease." @default.
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• W2545910533 date "2016-10-26" @default.
• W2545910533 modified "2023-10-16" @default.
• W2545910533 title "Novel compound heterozygous mutation in <scp>SACS</scp> gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, <scp>ARSACS</scp> , in a Finnish family" @default.
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• W2545910533 doi "https://doi.org/10.1002/ccr3.722" @default.
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