Cyclocreatine Transport by SLC6A8, the Creatine Transporter, in HEK293 Cells, a Human Blood-Brain Barrier Model Cell, and CCDSs Patient-Derived Fibroblasts
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Published in Pharmaceutical research (01.03.2020)
Published in Pharmaceutical research (01.03.2020)
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Late‐onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene
Ichikawa, Kazushi, Tsuyusaki, Yu, Shimbo, Hiroko, Goto, Tomohide
Published in Pediatrics international (01.10.2019)
Published in Pediatrics international (01.10.2019)
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The ATRX splicing variant c.21-1G>A is asymptomatic
Kojima, Karin, Wada, Takahito, Shimbo, Hiroko, Ikeda, Takahiro, Jimbo, Eriko F, Saitsu, Hirotomo, Matsumoto, Naomichi, Yamagata, Takanori
Published in Human genome variation (14.09.2022)
Published in Human genome variation (14.09.2022)
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Aggregate formation analysis of GFAPR416W found in one case of Alexander disease
Tulyeu, Janyerkye, Tamaura, Moe, Jimbo, Eriko, Shimbo, Hiroko, Takano, Kyoko, Iai, Mizue, Yamashita, Sumimasa, Goto, Tomohide, Aida, Noriko, Tokuhiro, Etsuro, Yamagata, Takanori, Osaka, Hitoshi
Published in Brain & development (Tokyo. 1979) (01.02.2019)
Published in Brain & development (Tokyo. 1979) (01.02.2019)
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Japanese Leigh syndrome case treated with EPI-743
Kouga, Takeshi, Takagi, Mariko, Miyauchi, Akihiko, Shimbo, Hiroko, Iai, Mizue, Yamashita, Sumimasa, Murayama, Kei, Klein, Matthew B., Miller, Guy, Goto, Tomohide, Osaka, Hitoshi
Published in Brain & development (Tokyo. 1979) (01.02.2018)
Published in Brain & development (Tokyo. 1979) (01.02.2018)
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A novel method for isolating lymphatic endothelial cells from lymphatic malformations and detecting PIK3CA somatic mutation in these isolated cells
Usui, Hidehito, Tsurusaki, Yoshinori, Shimbo, Hiroko, Saitsu, Hirotomo, Harada, Noriaki, Kitagawa, Norihiko, Mochizuki, Kyoko, Masuda, Munetaka, Kurosawa, Kenji, Shinkai, Masato
Published in Surgery today (Tokyo, Japan) (01.03.2021)
Published in Surgery today (Tokyo, Japan) (01.03.2021)
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Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease
Osaka, Hitoshi, Hamanoue, Haruka, Yamamoto, Ryoko, Nezu, Atsuo, Sasaki, Megumi, Saitsu, Hirotomo, Kurosawa, Kenji, Shimbo, Hiroko, Matsumoto, Naomichi, Inoue, Ken
Published in Annals of neurology (01.08.2010)
Published in Annals of neurology (01.08.2010)
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Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome
Kouga, Takeshi, Shimbo, Hiroko, Iai, Mizue, Yamashita, Sumimasa, Ishii, Atsushi, Ihara, Yukiko, Hirose, Shinichi, Yamakawa, Kazuhiro, Osaka, Hitoshi
Published in Brain & development (Tokyo. 1979) (01.02.2015)
Published in Brain & development (Tokyo. 1979) (01.02.2015)
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SSADH deficiency possibly associated with enzyme activity-reducing SNPs
Akiyama, Tomoyuki, Osaka, Hitoshi, Shimbo, Hiroko, Kuhara, Tomiko, Shibata, Takashi, Kobayashi, Katsuhiro, Kurosawa, Kenji, Yoshinaga, Harumi
Published in Brain & development (Tokyo. 1979) (01.10.2016)
Published in Brain & development (Tokyo. 1979) (01.10.2016)
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MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNAMet gene
Kuwajima, Mari, Goto, Masahide, Kurane, Koyuru, Shimbo, Hiroko, Omika, Narumi, Jimbo, Eriko F., Muramatsu, Kazuhiro, Tajika, Makiko, Shimura, Masaru, Murayama, Kei, Kurosawa, Kenji, Yamagata, Takanori, Osaka, Hitoshi
Published in Brain & development (Tokyo. 1979) (01.05.2019)
Published in Brain & development (Tokyo. 1979) (01.05.2019)
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Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases
Matsuhashi, Tetsuro, Sato, Takeya, Kanno, Shin-ichiro, Suzuki, Takehiro, Matsuo, Akihiro, Oba, Yuki, Kikusato, Motoi, Ogasawara, Emi, Kudo, Tai, Suzuki, Kosuke, Ohara, Osamu, Shimbo, Hiroko, Nanto, Fumika, Yamaguchi, Hiroaki, Saigusa, Daisuke, Mukaiyama, Yasuno, Watabe, Akiko, Kikuchi, Koichi, Shima, Hisato, Mishima, Eikan, Akiyama, Yasutoshi, Oikawa, Yoshitsugu, Hsin-Jung, HO, Akiyama, Yukako, Suzuki, Chitose, Uematsu, Mitsugu, Ogata, Masaki, Kumagai, Naonori, Toyomizu, Masaaki, Hozawa, Atsushi, Mano, Nariyasu, Owada, Yuji, Aiba, Setsuya, Yanagisawa, Teruyuki, Tomioka, Yoshihisa, Kure, Shigeo, Ito, Sadayoshi, Nakada, Kazuto, Hayashi, Ken-ichiro, Osaka, Hitoshi, Abe, Takaaki
Published in EBioMedicine (01.06.2017)
Published in EBioMedicine (01.06.2017)
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Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome
Ikeda, Takahiro, Osaka, Hitoshi, Shimbo, Hiroko, Tajika, Makiko, Yamazaki, Masayo, Ueda, Ayako, Murayama, Kei, Yamagata, Takanori
Published in Human genome variation (01.01.2018)
Published in Human genome variation (01.01.2018)
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Mitochonic Acid 5 (MA-5), a Derivative of the Plant Hormone Indole-3-Acetic Acid, Improves Survival of Fibroblasts from Patients with Mitochondrial Diseases
Suzuki, Takehiro, Yamaguchi, Hiroaki, Kikusato, Motoi, Matsuhashi, Tetsuro, Matsuo, Akihiro, Sato, Takeya, Oba, Yuki, Watanabe, Shun, Minaki, Daichi, Saigusa, Daisuke, Shimbo, Hiroko, Mori, Nobuyoshi, Mishima, Eikan, Shima, Hisato, Akiyama, Yasutoshi, Takeuchi, Yoichi, Yuri, Akinori, Kikuchi, Koichi, Toyohara, Takafumi, Suzuki, Chitose, Kohzuki, Masahiro, Anzai, Jun-ichi, Mano, Nariyasu, Kure, Shigeo, Yanagisawa, Teruyuki, Tomioka, Yoshihisa, Toyomizu, Masaaki, Ito, Sadayoshi, Osaka, Hitoshi, Hayashi, Ken-ichiro, Abe, Takaaki
Published in The Tohoku Journal of Experimental Medicine (01.07.2015)
Published in The Tohoku Journal of Experimental Medicine (01.07.2015)
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Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8
Kato, Hidekazu, Miyake, Fuyu, Shimbo, Hiroko, Ohya, Makoto, Sugawara, Hidenori, Aida, Noriko, Anzai, Rie, Takagi, Mariko, Okuda, Mitsuko, Takano, Kyoko, Wada, Takahito, Iai, Mizue, Yamashita, Sumimasa, Osaka, Hitoshi
Published in Brain & development (Tokyo. 1979) (01.08.2014)
Published in Brain & development (Tokyo. 1979) (01.08.2014)
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Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia
Ueda, Ayako, Shimbo, Hiroko, Yada, Yukari, Koike, Yasunori, Yamagata, Takanori, Osaka, Hitoshi
Published in Human genome variation (01.01.2018)
Published in Human genome variation (01.01.2018)
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