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- W2073974761 abstract "<h3>Background:</h3> Mutations in the gene encoding TDP-43 have been identified in both familial and sporadic amyotrophic lateral sclerosis (ALS). <h3>Methods:</h3> A mutation screen and copy number analysis in a motor neuron disease clinic cohort was conducted to characterise the genetic contribution of <i>TARDBP</i>. <h3>Results:</h3> A novel missense mutation in a highly conserved region of TDP-43 was identified in a patient with sporadic ALS. The mutation is in close vicinity to previously identified changes. Copy number variation abnormalities were not detected. <h3>Conclusions:</h3> The findings stress the importance of TDP-43 in the pathogenesis of sporadic ALS." @default.
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- W2073974761 date "2009-10-28" @default.
- W2073974761 modified "2023-10-15" @default.
- W2073974761 title "TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation" @default.
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- W2073974761 doi "https://doi.org/10.1136/jnnp.2008.166512" @default.
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