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Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome.
Yabe I, Yaguchi H, Kato Y, Miki Y, Takahashi H, Tanikawa S, Shirai S, Takahashi I, Kimura M, Hama Y, Matsushima M, Fujioka S, Kano T, Watanabe M, Nakagawa S, Kunieda Y, Ikeda Y, Hasegawa M, Nishihara H, Ohtsuka T, Tanaka S, Tsuboi Y, Hatakeyama S, Wakabayashi K, Sasaki H. Yabe I, et al. Among authors: miki y. Sci Rep. 2018 Jan 16;8(1):819. doi: 10.1038/s41598-018-19198-0. Sci Rep. 2018. PMID: 29339765 Free PMC article.
A small trinucleotide expansion in the TBP gene gives rise to a sporadic case of SCA17 with abnormal putaminal findings on MRI.
Watanabe M, Monai N, Jackson M, Yamamoto-Watanabe Y, Ikeda Y, Suzuki C, Tomiyama M, Kawarabayashi T, Kimura T, Seino Y, Wakasaya Y, Miki Y, Matsubara E, Shoji M. Watanabe M, et al. Among authors: miki y. Intern Med. 2008;47(24):2179-82. doi: 10.2169/internalmedicine.47.1499. Epub 2008 Dec 15. Intern Med. 2008. PMID: 19075547 Free article.
1,488 results