TARDBP p.G376D mutation, found in rapid progressive familial ALS, induces mislocalization of TDP-43

@inproceedings{Mitsuzawa2018TARDBPPM,
  title={TARDBP p.G376D mutation, found in rapid progressive familial ALS, induces mislocalization of TDP-43},
  author={Shio Mitsuzawa and Tetsuya Akiyama and Ayumi Nishiyama and N. Suzuki and Masaaki Kato and Hitoshi Warita and Rumiko Izumi and Shion Osana and Shingo Koyama and Takeo Kato and Yoshihiro Suzuki and Masashi Aoki},
  booktitle={eNeurologicalSci},
  year={2018}
}
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease which causes the progressive weakness and atrophy of limbs and respiratory muscles, resulting in death within 3–5 years of onset. Targeted next-generation sequencing has enabled a comprehensive analysis of ALS disease-causing genes [1]. However, a method to confirm the pathogenicity of… CONTINUE READING