東北大学 · 医学部 / 医学系研究科

研究关键词neurogenetics・rare pediatric syndromes・Leigh syndrome・galactosemia・neuromyelitis optica spectrum disorder・migrating neonatal seizures・FDG-PET・LONP1-associated CODAS syndrome・CLN6 neuronal ceroid lipofuscinosis

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• Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome.Yusuke Takezawa, Hiromi Fujie, Atsuo Kikuchi, Tetsuya Niihori, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Yoko Aoki, Masayuki Sasaki, Shigeo Kure
• Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation.Haruhiko Nakamura, Mitsugu Uematsu, Yurika Numata-Uematsu, Yu Abe, Wakaba Endo, Atsuo Kikuchi, Yusuke Takezawa, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Tetsuya Niihori, Yoko Aoki, Kazuhiro Haginoya, Shigeo Kure
• Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.Suzuki-Muromoto S, Miyabayashi T, Nagai K, Yamamura-Suzuki S, Anzai M, Takezawa Y, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Kikuchi A, Niihori T, Aoki Y, Kure S, Haginoya K
• Genomic analysis identifies masqueraders of full-term cerebral palsy.Yusuke Takezawa, Atsuo Kikuchi, Kazuhiro Haginoya, Tetsuya Niihori, Yurika Numata-Uematsu, Takehiko Inui, Saeko Yamamura-Suzuki, Takuya Miyabayashi, Mai Anzai, Sato Suzuki-Muromoto, Yukimune Okubo, Wakaba Endo, Noriko Togashi, Yasuko Kobayashi, Akira Onuma, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Yoko Aoki, Shigeo Kure

• Calcium overload and cell swelling during hypoxia in the neonatal brain提供機関： American Epilepsy Society
• 新生児低酸素性虚血性脳症におけるNa/Clイオン流入抑制は神経細胞浮腫を軽減する竹澤 祐介
• 満期産脳性麻痺の頭部MRI画像別遺伝的背景の同定竹澤 祐介
• 縦断的解析による注意欠如・多動性障害発症の予測因子の解析仲井 邦彦, 大田 千晴, 龍田 希, 和田 陽一, 竹澤 祐介, 穴井 茜

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