Article
Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis.
Neurogenetics - 1 May 2010
Kirby Janine, Goodall Emily F, Smith William, Highley J Robin, Masanzu Rudo, Hartley Judith A, Hibberd Rachel, Hollinger Hannah C, Wharton Stephen B, Morrison Karen E, Ince Paul G, McDermott Christopher J, Shaw Pamela J
Abstract excerpt
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...
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