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A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN.
Watanabe H, Atsuta N, Hirakawa A, Nakamura R, Nakatochi M, Ishigaki S, Iida A, Ikegawa S, Kubo M, Yokoi D, Watanabe H, Ito M, Katsuno M, Izumi Y, Morita M, Kanai K, Taniguchi A, Aiba I, Abe K, Mizoguchi K, Oda M, Kano O, Okamoto K, Kuwabara S, Hasegawa K, Imai T, Kawata A, Aoki M, Tsuji S, Nakashima K, Kaji R, Sobue G. Watanabe H, et al. Among authors: sobue g. J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):851-8. doi: 10.1136/jnnp-2015-311541. Epub 2016 Jan 8. J Neurol Neurosurg Psychiatry. 2016. PMID: 26746183
Founder effect in spinal and bulbar muscular atrophy (SBMA).
Tanaka F, Doyu M, Ito Y, Matsumoto M, Mitsuma T, Abe K, Aoki M, Itoyama Y, Fischbeck KH, Sobue G. Tanaka F, et al. Among authors: sobue g. Hum Mol Genet. 1996 Sep;5(9):1253-7. doi: 10.1093/hmg/5.9.1253. Hum Mol Genet. 1996. PMID: 8872464
Axonal and perikaryal involvement in chronic inflammatory demyelinating polyneuropathy.
Nagamatsu M, Terao S, Misu K, Li M, Hattori N, Ichimura M, Sakai M, Yamamoto H, Watanabe H, Riku S, Ikeda E, Hata J, Oda M, Satake M, Nakamura N, Matsuya S, Hashizume Y, Sobue G. Nagamatsu M, et al. Among authors: sobue g. J Neurol Neurosurg Psychiatry. 1999 Jun;66(6):727-33. doi: 10.1136/jnnp.66.6.727. J Neurol Neurosurg Psychiatry. 1999. PMID: 10329744 Free PMC article.
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).
Misu K, Yoshihara T, Shikama Y, Awaki E, Yamamoto M, Hattori N, Hirayama M, Takegami T, Nakashima K, Sobue G. Misu K, et al. Among authors: sobue g. J Neurol Neurosurg Psychiatry. 2000 Dec;69(6):806-11. doi: 10.1136/jnnp.69.6.806. J Neurol Neurosurg Psychiatry. 2000. PMID: 11080237 Free PMC article.
1,013 results