检索结果 - Akira Ohtake

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  1. 1
    Analysis of the Assembly Profiles for Mitochondrial- and Nuclear-DNA-Encoded Subunits into Complex I

    Analysis of the Assembly Profiles for Mitochondrial- and Nuclear-DNA-Encoded Subunits into Complex I 由 Michael Lazarou, Matthew McKenzie, Akira Ohtake, David R. Thorburn, Michael T. Ryan

    出版 2007
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  2. 2
    OTX2 Loss of Function Mutation Causes Anophthalmia and Combined Pituitary Hormone Deficiency with a Small Anterior and Ectopic Posterior Pituitary

    OTX2 Loss of Function Mutation Causes Anophthalmia and Combined Pituitary Hormone Deficiency with a Small Anterior and Ectopic Posterior Pituitary 由 Toshihiro Tajima, Akira Ohtake, Masaya Hoshino, Shin Amemiya, Nozomu Sasaki, Katsura Ishizu, Kenji Fujieda

    出版 2008
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  3. 3
    Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders

    Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders 由 David R. Thorburn, Canny Sugiana, Renato Salemi, Denise M. Kirby, Lisa Worgan, Akira Ohtake, Michael T. Ryan

    出版 2004
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  4. 4
    Guidance for Pediatric Familial Hypercholesterolemia 2017

    Guidance for Pediatric Familial Hypercholesterolemia 2017 由 Mariko Harada‐Shiba, Takao Ohta, Akira Ohtake, Masatsune Ogura, Kazushige Dobashi, Atsushi Nohara, Shizuya Yamashita, Koutaro Yokote

    出版 2018
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  5. 5
    Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function

    Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function 由 Sze Chern Lim, Makiko Tajika, Masaru Shimura, Kirstyn T. Carey, David A. Stroud, Kei Murayama, Akira Ohtake, Matthew McKenzie

    出版 2018
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  6. 6
    Guidelines for the Diagnosis and Treatment of Pediatric Familial Hypercholesterolemia 2022

    Guidelines for the Diagnosis and Treatment of Pediatric Familial Hypercholesterolemia 2022 由 Mariko Harada‐Shiba, Akira Ohtake, Daisuke Sugiyama, Hayato Tada, Kazushige Dobashi, Kota Matsuki, Tetsuo Minamino, Shizuya Yamashita, Y. Yamamoto

    出版 2023
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  7. 7
    ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

    ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome 由 Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto

    出版 2017
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  8. 8
    A Genetic Factor for Age-Related Cataract: Identification and Characterization of a Novel Galactokinase Variant, “Osaka,” in Asians

    A Genetic Factor for Age-Related Cataract: Identification and Characterization of a Novel Galactokinase Variant, “Osaka,” in Asians 由 Yoshiyuki Okano, Minoru Asada, Akie Fujimoto, Akira Ohtake, Koichiro Murayama, Kwang‐Jen Hsiao, Kyuchul Choeh, Yanling Yang, Qixiang Cao, Juergen Reichardt, Shizuhiro Niihira, Takuji Imamura, Tsunekazu Yamano

    出版 2001
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  9. 9
    A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

    A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation 由 Hirotomo Saitsu, Jun Tohyama, Tom Walsh, Mitsuhiro Kato, Yu Kobayashi, Ming Lee, Yoshinori Tsurusaki, Noriko Miyake, Yu-ichi Goto, Ichizo Nishino, Akira Ohtake, Mary‐Claire King, Naomichi Matsumoto

    出版 2014
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  10. 10
    Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors

    Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors 由 Akihiko Miyauchi, Chika Watanabe, Naoya Yamada, Eriko F. Jimbo, Mizuki Kobayashi, Natsumi Ohishi, Atsuko Nagayoshi, Shiho Aoki, Yoshihito Kishita, Akira Ohtake, Nobuhiko Ohno, Masafumi Takahashi, Takanori Yamagata, Hitoshi Osaka

    出版 2024
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  11. 11
    Diagnosis and molecular basis of mitochondrial respiratory chain disorders: Exome sequencing for disease gene identification

    Diagnosis and molecular basis of mitochondrial respiratory chain disorders: Exome sequencing for disease gene identification 由 Akira Ohtake, Kei Murayama, Masayuki Mori, Hiroko Harashima, Taro Yamazaki, Shunsuke Tamaru, Yukiko Yamashita, Yoshihito Kishita, Yutaka Nakachi, Masakazu Kohda, Yoshimi Tokuzawa, Yosuke Mizuno, Yohsuke Moriyama, Hiroyuki Kato, Yasushi Okazaki

    出版 2014
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  12. 12
    NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

    NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency 由 Denise M. Kirby, Renato Salemi, Canny Sugiana, Akira Ohtake, Lee Parry, Katrina M. Bell, Edwin P. Kirk, Avihu Boneh, Robert W. Taylor, Hans‐Henrik M. Dahl, Michael T. Ryan, David R. Thorburn

    出版 2004
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  13. 13
    Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome

    Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome 由 Nurun Nahar Borna, Yoshihito Kishita, Masakazu Kohda, Sze Chern Lim, Masaru Shimura, Yibo Wu, Kaoru Mogushi, Yukiko Yatsuka, Hiroko Harashima, Yuichiro Hisatomi, Takuya Fushimi, Keiko Ichimoto, Kei Murayama, Akira Ohtake, Yasushi Okazaki

    出版 2019
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  14. 14
    Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

    Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients 由 Erika Ogawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Mika Ishige, Tatsuo Fuchigami, Taro Yamazaki, Masato Mori, Masakazu Kohda, Yoshihito Kishita, Yasushi Okazaki, Shori Takahashi, Akira Ohtake, Kei Murayama

    出版 2017
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  15. 15
    Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease

    Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease 由 Kana Asano, Takeo Suzuki, Ayaka Saito, Fan‐Yan Wei, Yoshiho Ikeuchi, T. Numata, Ryou Tanaka, Yoshihisa YAMANE, Takeshi Yamamoto, Takanobu Goto, Yoshihito Kishita, Kei Murayama, Akira Ohtake, Yasushi Okazaki, Kazuhito Tomizawa, Yuriko Sakaguchi, Tsutomu Suzuki

    出版 2018
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  16. 16
    Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis

    Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis 由 Erika Ogawa, Takuya Fushimi, Minako Ogawa‐Tominaga, Masaru Shimura, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Mika Ishige, Tatsuo Fuchigami, Taro Yamazaki, Yoshihito Kishita, Masakazu Kohda, Atsuko Imai‐Okazaki, Yasushi Okazaki, Ichiro Morioka, Akira Ohtake, Kei Murayama

    出版 2020
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  17. 17
    Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation

    Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation 由 Masaru Shimura, Naomi Kuranobu, Minako Ogawa‐Tominaga, Nana Akiyama, Yohei Sugiyama, Tomohiro Ebihara, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Yoshihito Kishita, Shuichiro Umetsu, Ayano Inui, Tomoo Fujisawa, Ken Tanikawa, Reiko Ito, Akinari Fukuda, Jun Murakami, Shunsaku Kaji, Mureo Kasahara, Kazuo Shiraki, Akira Ohtake, Yasushi Okazaki, Kei Murayama

    出版 2020
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  18. 18
    Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations

    Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations 由 Madori Osawa, Yasunori Fujita, Kazuki Kagami, Masataka Ito, Yoshiteru Tamura, Shoichiro Tateishi, Junya Take, F. Hirose, Hidetoshi Hagiwara, Kohsuke Imai, Daisuke Yoshinaga, Shiro Baba, Mitsujiro Osawa, Hiroko Harashima, Kei Murayama, Yuko Akioka, Akira Ohtake, Ikuro Suzuki, Takeshi Adachi, Taro Yamazaki, Satoshi Arai, Shiro Matsumoto, Tetsuya Kitaguchi, Megumu K. Saito, Ikuroh Ohsawa, Shigeaki Nonoyama

    出版 2025
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  19. 19
    Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

    Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26 由 Yoshihito Kishita, Aleksandra Pajak, Nikhita Bolar, C Marobbio, Camilla Maffezzini, Daniela Valeria Miniero, Magnus Monné, Masakazu Kohda, Henrik Stranneheim, Kei Murayama, K Naess, Nicole Lesko, Helene Bruhn, Arnaud Mourier, Rolf Wibom, Inger Nennesmo, Ann Jespers, Paul Govaert, Akira Ohtake, Lut Van Laer, Bart Loeys, Christoph Freyer, Ferdinando Palmieri, Anna Wredenberg, Yasushi Okazaki, Anna Wedell

    出版 2015
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  20. 20
    Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

    Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy 由 Robert Kopajtich, Kei Murayama, Andreas Janecke, Tobias B. Haack, Maximilian Breuer, A. S. Knisely, Inga Harting, Toya Ohashi, Yasushi Okazaki, Daisaku WATANABE, Yoshimi Tokuzawa, Urania Kotzaeridou, Stefan Kölker, Sven W. Sauer, Michael Carl, Simon Straub, Andreas Entenmann, Elke R. Gizewski, René G. Feichtinger, Johannes A. Mayr, K. Lackner, Tim M. Strom, Thomas Meitinger, Thomas Müller, Akira Ohtake, Georg F. Hoffmann, Holger Prokisch, Christian Staufner

    出版 2016
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