Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis.

@article{Hirano2013MutationsIT,
  title={Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis.},
  author={Makito Hirano and Yusaku Nakamura and Kazumasa Saigoh and Hikaru Sakamoto and Shuichi Ueno and Chiharu Isono and Katsuichi Miyamoto and M. Akamatsu and Yoshiyuki Mitsui and Susumu Kusunoki},
  journal={Neurology},
  year={2013},
  volume={80 5},
  pages={458-63}
}
OBJECTIVE The purpose of this study was to find mutations in the SQSTM1 gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis (ALS), since this gene has been recently identified as a causative gene for familial and sporadic ALS in the United States. METHODS We sequenced this gene in 61 Japanese patients with sporadic and familial ALS. To our knowledge, we describe for the first time the clinical information of such mutation-positive patients. RESULTS We found novel… CONTINUE READING
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