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- W2079482257 abstract "The authors present a 50-year-old patient with adult-onset amyotrophic lateral sclerosis (ALS) that was rapidly progressing. Screening of the spastin gene revealed a heterozygous missense change S44L. We excluded the involvement of the ALS-linked gene for copper/zinc superoxide dismutase (SOD1). This unusual phenotype shows that allelic variants of spastin may predispose bearers to a greater spectrum of motor neuron disorders including ALS." @default.
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- W2079482257 date "2008-01-01" @default.
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- W2079482257 title "Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis" @default.
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- W2079482257 doi "https://doi.org/10.1080/17482960801900172" @default.
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