<ce:italic>FUS</ce:italic>, <ce:italic>TARDBP</ce:italic>, and <ce:italic>SOD1</ce:italic> mutations in a Taiwanese cohort with familial ALS

@article{Tsai2011ceitalicFUSceitalicA,
  title={<ce:italic>FUS</ce:italic>, <ce:italic>TARDBP</ce:italic>, and <ce:italic>SOD1</ce:italic> mutations in a Taiwanese cohort with familial ALS},
  author={Ching-Piao Tsai and Bing-Wen Soong and Kon-ping Lin and Pang-Hsien Tu and Kon-Ping Lin and Yi-Chung Lee},
  journal={Neurobiology of Aging},
  year={2011},
  volume={32},
  pages={553.e13-553.e21}
}
The cause of familial amyotrophic lateral sclerosis (FALS) has been attributed to mutations in several genes. The authors analyzed these genes, including SOD1, FUS, VAPB, ANG, TDP-43, FIG4, and CHMP2B, in a cohort of 15 index patients of Han Chinese descent with adult-onset FALS. Seven different mutations in eight patients, including three in SOD1 (G85R, T137R, and G138E), two in exon 15 of FUS (H517D and R521H), and two in exon 6 of TARDBP (M337V and N378D) were identified. Among them, T137R… CONTINUE READING
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Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

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