Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome

Clinical diagnosis of progressive supranuclear palsy (PSP) is sometimes difficult because various phenotypes have been identified. Here, we report a mutation in the bassoon (BSN) gene in a family with PSP-like syndrome. Their clinical features resembled not only those of PSP patients but also those...

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Publicado no:Sci Rep
Main Authors: Yabe, Ichiro, Yaguchi, Hiroaki, Kato, Yasutaka, Miki, Yasuo, Takahashi, Hidehisa, Tanikawa, Satoshi, Shirai, Shinichi, Takahashi, Ikuko, Kimura, Mari, Hama, Yuka, Matsushima, Masaaki, Fujioka, Shinsuke, Kano, Takahiro, Watanabe, Masashi, Nakagawa, Shin, Kunieda, Yasuyuki, Ikeda, Yoshio, Hasegawa, Masato, Nishihara, Hiroshi, Ohtsuka, Toshihisa, Tanaka, Shinya, Tsuboi, Yoshio, Hatakeyama, Shigetsugu, Wakabayashi, Koichi, Sasaki, Hidenao
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5770378/
https://ncbi.nlm.nih.gov/pubmed/29339765
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-19198-0
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