Risultati della ricerca - Hitoshi Osaka

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  1. 1
    Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes

    Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes di Takayuki Kondo, Misato Funayama, Michiyo Miyake, Kayoko Tsukita, Takumi Era, Hitoshi Osaka, Takashi Ayaki, Ryōsuke Takahashi, Haruhisa Inoue

    Pubblicazione 2016
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  2. 2
    Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex

    Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex di Ken Natsuga, Wataru Nishie, Satoru Shinkuma, Ken Arita, Hideki Nakamura, Makiko Ohyama, Hitoshi Osaka, Takeshi Kambara, Yoshiaki Hirako, Hiroshi Shimizu

    Pubblicazione 2010
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  3. 3
    Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

    Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICP... di Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun‐ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa

    Pubblicazione 2017
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  4. 4
    A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy

    A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy di Megumi Tsuji, Noriko Aida, Takayuki Obata, Moyoko Tomiyasu, Noritaka Furuya, Kenji Kurosawa, Abdellatif Errami, K. Michael Gibson, Gajja S. Salomons, Cornelis Jakobs, Hitoshi Osaka

    Pubblicazione 2010
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  5. 5
    <i><scp>PIGO</scp></i> mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

    <i><scp>PIGO</scp></i> mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels di Kazuyuki Nakamura, Hitoshi Osaka, Yoshiko Murakami, Rie Anzai, Kiyomi Nishiyama, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Taroh Kinoshita, Naomichi Matsumoto, Hirotomo Saitsu

    Pubblicazione 2014
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  6. 6
    De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

    De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly di Yuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai, Shigeo Yamaoka, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kenji Yokochi, Hitoshi Osaka, Mitsuhiro Kato, Naomichi Matsumoto, Hirotomo Saitsu

    Pubblicazione 2011
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  7. 7
    Role of Ubiquitin Carboxy Terminal Hydrolase-L1 in Neural Cell Apoptosis Induced by Ischemic Retinal Injury in Vivo

    Role of Ubiquitin Carboxy Terminal Hydrolase-L1 in Neural Cell Apoptosis Induced by Ischemic Retinal Injury in Vivo di Takayuki Harada, Chikako Harada, Yu-Lai Wang, Hitoshi Osaka, Kazuhito Amanai, Kohichi Tanaka, Shuichi Takizawa, Rieko Setsuie, Mikako Sakurai, Yae Sato, Mami Noda, Keiji Wada

    Pubblicazione 2004
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  8. 8
    De novo mutations of voltage-gated sodium channel α <sub>II</sub> gene <i>SCN2A</i> in intractable epilepsies

    De novo mutations of voltage-gated sodium channel α <sub>II</sub> gene <i>SCN2A</i> in intractable epilepsies di Ikuo Ogiwara, Koichi Ito, Yukio Sawaishi, Hitoshi Osaka, Emi Mazaki, Ikuyo Inoue, M Montal, Tsutomu Hashikawa, T Shike, Tateki Fujiwara, Yushi Inoue, Makoto Kaneda, Kazuhiro Yamakawa

    Pubblicazione 2009
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  9. 9
    De novo <i><scp>DNM1</scp></i> mutations in two cases of epileptic encephalopathy

    De novo <i><scp>DNM1</scp></i> mutations in two cases of epileptic encephalopathy di Mitsuko Nakashima, Takeshi Kouga, Charles Marques Lourenço, Masaaki Shiina, Tomohide Goto, Yoshinori Tsurusaki, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Kazuhiro Ogata, Hitoshi Osaka, Naomichi Matsumoto

    Pubblicazione 2015
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  10. 10
    Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome

    Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome di Tojo Nakayama, Ikuo Ogiwara, Koichi Ito, Makoto Kaneda, Emi Mazaki, Hitoshi Osaka, Hideyuki Ohtani, Yushi Inoue, Tateki Fujiwara, Mitsugu Uematsu, Kazuhiro Haginoya, Shigeru Tsuchiya, Kazuhiro Yamakawa

    Pubblicazione 2010
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  11. 11
    Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females

    Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females di Ken Inoue, Hitoshi Osaka, Virginia C. Thurston, Joe T.R. Clarke, Akira Yoneyama, Lisa Rosenbarker, Thomas D. Bird, M. E. Hodes, Lisa G. Shaffer, James R. Lupski

    Pubblicazione 2002
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  12. 12
    WDR45 mutations in three male patients with West syndrome

    WDR45 mutations in three male patients with West syndrome di Mitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, Shinsaku Yoshitomi, Masayuki Shimono, Yoshihiro Aoki, Mitsuhiro Kato, Noriko Aida, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Hitoshi Osaka, Hirotomo Saitsu, Naomichi Matsumoto

    Pubblicazione 2016
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  13. 13
    Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors

    Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors di 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

    Pubblicazione 2024
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  14. 14
    De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

    De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance di Chihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, Kazuo Kubota, Akihiko Ishiyama, Takuya Hiraide, Hirofumi Komaki, Masayuki Sasaki, Satoko Miyatake, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Fumiaki Tanaka, Hirotomo Saitsu, Naomichi Matsumoto

    Pubblicazione 2015
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  15. 15
    Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived Oligodendrocytes

    Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived Oligodendrocytes di Yuko Numasawa-Kuroiwa, Yohei Okada, Shinsuke Shibata, Noriyuki Kishi, Wado Akamatsu, Masanobu Shoji, Atsushi Nakanishi, Manabu Oyama, Hitoshi Osaka, Ken Inoue, Kazutoshi Takahashi, Shinya Yamanaka, Kenjiro Kosaki, Takao Takahashi, Hideyuki Okano

    Pubblicazione 2014
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  16. 16
    Phenotype of GABA-transaminase deficiency

    Phenotype of GABA-transaminase deficiency di Mary Kay Koenig, Ryan Hodgeman, James J. Riviello, Wendy K. Chung, Jennifer Bain, Claudia A. Chiriboga, Kazushi Ichikawa, Hitoshi Osaka, Megumi Tsuji, K. Michael Gibson, Penelope E. Bonnen, Phillip L. Pearl

    Pubblicazione 2017
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  17. 17
    Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

    Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy di Hirotomo Saitsu, Hitoshi Osaka, Masayuki Sasaki, Jun‐ichi Takanashi, Keisuke Hamada, Akio Yamashita, Hidehiro Shibayama, Masaaki Shiina, Yukiko Kondo, Kiyomi Nishiyama, Yoshinori Tsurusaki, Noriko Miyake, Hiroshi Doi, Kazuhiro Ogata, Ken Inoue, Naomichi Matsumoto

    Pubblicazione 2011
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  18. 18
    Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

    Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency di Karin Kojima, Takeshi Nakajima, Naoyuki Taga, Akihiko Miyauchi, Mitsuhiro Kato, Ayumi Matsumoto, Takahiro Ikeda, Kazuyuki Nakamura, Tetsuo Kubota, Hiroaki Mizukami, Sayaka Ono, Y. Onuki, Toshihiko Satō, Hitoshi Osaka, Shin‐ichi Muramatsu, Takanori Yamagata

    Pubblicazione 2018
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  19. 19
    Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron

    Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron di Hitoshi Osaka, Yu Lai Wang, Koji Takada, Shuichi Takizawa, Rieko Setsuie, Hang Li, Yae Sato, Kaori Nishikawa, Ying Sun, Mikako Sakurai, Takayuki Harada, Yoko Hara, Ichirô KIMURA, Shigeru Chiba, Kazuhiko Namikawa, Hiroshi Kiyama, Mami Noda, Shunsuke Aoki, Keiji Wada

    Pubblicazione 2003
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  20. 20
    De Novo Mutations in<i>SLC35A2</i>Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

    De Novo Mutations in<i>SLC35A2</i>Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy di Hirofumi Kodera, Kazuyuki Nakamura, Hitoshi Osaka, Yoshihiro Maegaki, Kazuhiro Haginoya, Shuji Mizumoto, Mitsuhiro Kato, Nobuhiko Okamoto, Mizue Iai, Yukiko Kondo, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Kiyoshi Hayasaka, Kazuyuki Sugahara, Isao Yuasa, Yoshinao Wada, Naomichi Matsumoto, Hirotomo Saitsu

    Pubblicazione 2013
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