Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

@article{Kirby2009BroadCP,
  title={Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis},
  author={Janine Kirby and Emily F. Goodall and William Smith and J. Robin Highley and Rudo Masanzu and Judith A. Hartley and Rachel Hibberd and Hannah C. Hollinger and Stephen Barrie Wharton and Karen E. Morrison and Paul G. Ince and Christopher J Mcdermott and Pamela J Shaw},
  journal={neurogenetics},
  year={2009},
  volume={11},
  pages={217-225}
}
The finding of TDP-43 as a major component of ubiquitinated protein inclusions in amyotrophic lateral sclerosis (ALS) has led to the identification of 30 mutations in the transactive response-DNA binding protein (TARDBP) gene, encoding TDP-43. All but one are in exon 6, which encodes the glycine-rich domain. The aim of this study was to determine the frequency of TARDBP mutations in a large cohort of motor neurone disease patients from Northern England (42 non-superoxide dismutase 1 (SOD1… CONTINUE READING
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