Screening for <ce:italic>TARDBP</ce:italic> mutations in Japanese familial amyotrophic lateral sclerosis

  title={Screening for <ce:italic>TARDBP</ce:italic> mutations in Japanese familial amyotrophic lateral sclerosis},
  author={Masaki Kamada and Hirofumi Maruyama and Eiji Tanaka and Hiroyuki Morino and Hideshi Kawakami},
  journal={Journal of the Neurological Sciences},
TAR-DNA-binding protein 43 (TDP-43), encoded by the TARDBP gene on chromosome 1p36.22, has been identified as the major pathological protein in abnormal inclusions in neurons and glial cells in sporadic amyotrophic lateral sclerosis (SALS), SOD1-negative familial ALS (FALS) and frontotemporal lobar dementia (FTLD). Twenty mutations of TARDBP in SOD1-negative FALS and SALS cases have been reported so far. To investigate the presence and frequency of TARDBP mutations in Japanese SOD1-negative… CONTINUE READING


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