TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course.

@article{Borroni2010TARDBPMI,
  title={TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course.},
  author={Barbara Borroni and Silvana Archetti and Roberto Del Bo and Alice Papetti and Emanuele Buratti and Cristian Bonvicini and Chiara Agosti and Maura Cosseddu and Marinella Turla and Diego Di Lorenzo and Giacomo Pietro Comi and Massimo Gennarelli and Alessandro Padovani},
  journal={Rejuvenation research},
  year={2010},
  volume={13 5},
  pages={509-17}
}
The 43-kD transactive response (TAR)-DNA-binding protein (TARDBP) mutations have been demonstrated to be causative of sporadic and familial forms of amyotrophic lateral sclerosis. More recently, these mutations have been reported in cases of frontotemporal lobar degeneration (FTLD). The aim of this study was to evaluate the role of TARDBP genetic variations in a large sample of consecutive patients with FTLD. A total of 252 FTLD patients were investigated. Each subject had a clinical and… CONTINUE READING

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