論文 - 石浦 浩之
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A Case of Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy.
Ryoji Miyano, Akihiko Mitsutake, Takashi Matsukawa, Satomi Obata, Hiroaki Koyama, Yudai Nakai, Hiroyuki Ishiura, Akatsuki Kubota, Jun Shimizu, Kaori Sakuishi, Tatsushi Toda
Internal medicine (Tokyo, Japan) 2024年12月
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Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis. 国際誌
So Okubo, Hiroya Naruse, Hiroyuki Ishiura, Atsushi Sudo, Kayoko Esaki, Jun Mitsui, Takashi Matsukawa, Wataru Satake, Peter Greimel, Nanoka Shingai, Yasushi Oya, Takeo Yoshikawa, Shoji Tsuji, Tatsushi Toda
Journal of neurology 272 ( 1 ) 36 - 36 2024年12月
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Subacute Upper Motor Neuron Dysfunction Possibly Associated with the Anti-GM1 Autoantibody: A Case Report.
So Okubo, Meiko Maeda, Kazuto Katsuse, Hiroyuki Ishiura, Yuichiro Shirota, Masashi Hamada, Wataru Satake, Tatsushi Toda
Internal medicine (Tokyo, Japan) 2024年11月
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Clinical phenotypes and CSF phospho-tau in NOTCH2NLC-related neuronal intranuclear inclusion disease(タイトル和訳中)
Kurihara Masanori, Sengoku Renpei, Morimoto Satoru, Mitsutake Akihiko, Ishiura Hiroyuki, Higashihara Mana, Tokumaru Aya Midori, Kanemaru Kazutomi, Saito Yuko, Murayama Shigeo, Iwata Atsushi
臨床神経学 64 ( Suppl. ) S265 - S265 2024年10月
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Clinical and genetic analysis of Japanese patients with SPG7(タイトル和訳中)
Mitsutake Akihiko, Hino Rimi, Sakai Yuto, Matsukawa Takashi, Mitsui Jun, Ishiura Hiroyuki, Iwata Nobue K., Tsuji Shoji, Toda Tatsushi
臨床神経学 64 ( Suppl. ) S372 - S372 2024年10月
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当院における2家系のSCAR8の検討
柚木 太淳, 松岡 千加, 小坂田 陽介, 中野 由美子, 武本 麻美, 森原 隆太, 山下 徹, 石浦 浩之
臨床神経学 64 ( 10 ) 751 - 751 2024年10月
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ATXN2遺伝子のCAGリピートをホモ接合性に有し同胞と臨床病型が異なりパーキンソニズムと痙性を呈した症例
小坂田 陽介, 松岡 千加, 中田 有美, 佐々木 諒, 中野 由美子, 柚木 太淳, 武本 麻美, 森原 隆太, 山下 徹, 石浦 浩之
臨床神経学 64 ( 10 ) 755 - 755 2024年10月
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髄液中抗MOG抗体を指標にIVIGによる維持療法を行った再発性MOGADの一例
池上 憲, 佐々木 諒, 石田 将大, 樹下 明典, 平 祐貴, 小坂田 陽介, 武本 麻美, 森原 隆太, 柚木 太淳, 山下 徹, 石浦 浩之
神経免疫学 29 ( 1 ) 262 - 262 2024年10月
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レカネマブ治療に伴うAPOE遺伝子型検査の実際
森原 隆太, 小坂田 陽介, 池上 憲, 平 祐貴, 石田 将大, 樹下 明典, 柚木 太淳, 武本 麻美, 野村 恵美, 河野 智仁, 松岡 千加, 山下 徹, 加藤 芙美乃, 深野 智華, 平沢 晃, 石浦 浩之
Dementia Japan 38 ( 4 ) 681 - 681 2024年10月
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Hyperdense Vessel Sign in Brain Computed Tomography as an Early Indication of Reversible Cerebral Vasoconstriction Syndrome: A Case Report.
Akihiko Mitsutake, Tatsuo Mano, Mizuho Kawai, Ryo Kurokawa, Hiroyuki Ishiura, Kaori Sakuishi, Harushi Mori, Tatsushi Toda
Internal medicine (Tokyo, Japan) 2024年9月
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A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy. 査読
Akihiko Mitsutake, Takashi Matsukawa, Tatsuhiko Naito, Hiroyuki Ishiura, Jun Mitsui, Hiroaki Harada, Keishi Fujio, Jun Fujishiro, Harushi Mori, Shinichi Morishita, Shoji Tsuji, Tatsushi Toda
Internal medicine (Tokyo, Japan) 2024年8月
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Kenta Orimo, Jun Mitsui, Takashi Matsukawa, Masaki Tanaka, Junko Nomoto, Hiroyuki Ishiura, Yosuke Omae, Yosuke Kawai, Katsushi Tokunaga, Hatsue Ishibashi-Ueda, Tsutomu Tomita, Michio Noguchi, Ayako Takahashi, Yu-ichi Goto, Sumiko Yoshida, Kotaro Hattori, Ryo Matsumura, Aritoshi Iida, Yutaka Maruoka, Hiroyuki Gatanaga, Akihiko Shimomura, Masaya Sugiyama, Satoshi Suzuki, Kengo Miyo, Yoichi Matsubara, Akihiro Umezawa, Kenichiro Hata, Tadashi Kaname, Kouichi Ozaki, Haruhiko Tokuda, Hiroshi Watanabe, Shumpei Niida, Eisei Noiri, Koji Kitajima, Yosuke Omae, Reiko Miyahara, Hideyuki Shimanuki, Yosuke Kawai, Katsushi Tokunaga, Tatsushi Toda, Shoji Tsuji
Journal of Human Genetics 2024年7月
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A novel TBK1 loss-of-function variant associated with ALS and parkinsonism phenotypes. 査読 国際誌
Hiroya Naruse, Chifumi Iseki, Jun Mitsui, Jun Miki, Hikaru Nagasawa, Katsuro Kurokawa, Ryota Kobayashi, Hiroyasu Sato, Jun Goto, Wataru Satake, Hiroyuki Ishiura, Shoji Tsuji, Yasuyuki Ohta, Tatsushi Toda
Amyotrophic lateral sclerosis & frontotemporal degeneration 1 - 4 2024年7月
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Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis. 査読 国際誌
Elisa Vegezzi, Hiroyuki Ishiura, D Cristopher Bragg, David Pellerin, Francesca Magrinelli, Riccardo Currò, Stefano Facchini, Arianna Tucci, John Hardy, Nutan Sharma, Matt C Danzi, Stephan Zuchner, Bernard Brais, Mary M Reilly, Shoji Tsuji, Henry Houlden, Andrea Cortese
The Lancet. Neurology 23 ( 7 ) 725 - 739 2024年7月
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Treatment of cryptogenic new-onset refractory status epilepticus (C-NORSE) with tocilizumab: A case report. 査読
Yumiko Nakamura, Masayuki Ueda, Satoshi Kodama, Tomohiko Kimura, Yuichiro Shirota, Masashi Hamada, Hiroyuki Ishiura, Takahiro Iizuka, Tatsushi Toda
Internal medicine (Tokyo, Japan) 2024年4月
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Protective effect of scallop-derived plasmalogen against vascular dysfunction, via the pSTAT3/PIM1/NFATc1 axis, in a novel mouse model of Alzheimer's disease with cerebral hypoperfusion. 査読 国際誌
Yun Zhai, Ryuta Morihara, Tian Feng, Xinran Hu, Yusuke Fukui, Zhihong Bian, Yuting Bian, Haibo Yu, Hongming Sun, Mami Takemoto, Yumiko Nakano, Taijun Yunoki, Ying Tang, Hiroyuki Ishiura, Toru Yamashita
Brain research 1828 148790 - 148790 2024年4月
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Neuroprotective effect of, a flavonoid, sudachitin in mice stroke model. 査読 国際誌
Ricardo Satoshi Ota-Elliott, Yusuke Fukui, Yuting Bian, Zhihong Bian, Xinran Hu, Hongming Sun, Haibo Yu, Ryuta Morihara, Hiroyuki Ishiura, Toru Yamashita
Brain research 1827 148745 - 148745 2024年3月
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Proximal sensory neuropathy and cerebellar ataxia as presenting symptoms of NOTCH2NLC-related neuronal intranuclear inclusion disease. 査読 国際誌
Kai Funakawa, Masanori Kurihara, Kensuke Takahashi, Mana Higashihara, Manato Hara, Akihiko Mitsutake, Hiroyuki Ishiura, Aya Midori Tokumaru, Masahiro Sonoo, Shigeo Murayama, Yuko Saito, Atsushi Iwata
Journal of the neurological sciences 458 122915 - 122915 2024年2月
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CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy. 査読 国際誌
Yan Shi, Chunyan Cao, Yiheng Zeng, Yuanliang Ding, Long Chen, Fuze Zheng, Xuejiao Chen, Fanggui Zhou, Xiefeng Yang, Jinjing Li, Liuqing Xu, Guorong Xu, Minting Lin, Hiroyuki Ishiura, Shoji Tsuji, Ning Wang, Zhiqiang Wang, Wan-Jin Chen, Kang Yang
Journal of genetics and genomics = Yi chuan xue bao 51 ( 2 ) 184 - 196 2024年2月
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The Japan MSA registry: A multicenter cohort study of multiple system atrophy 査読
Ayaka Chikada, Kenta Orimo, Jun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, Tatsushi Toda, Hidehiro Mizusawa, Yuji Takahashi, Masahisa Katsuno, Kazuhiro Hara, Osamu Onodera, Tomohiko Ishihara, Masayoshi Tada, Satoshi Kuwabara, Atsuhiko Sugiyama, Yoshitaka Yamanaka, Ryosuke Takahashi, Nobukatsu Sawamoto, Yusuke Sakato, Tomoyuki Ishimoto, Ritsuko Hanajima, Yasuhiro Watanabe, Hiroshi Takigawa, Tadashi Adachi, Koji Abe, Toru Yamashita, Hiroshi Takashima, Keiko Higashi, Junichi Kira, Ichiro Yabe, Masaaki Matsushima, Katsuhisa Ogata, Kinya Ishikawa, Yoichiro Nishida, Taro Ishiguro, Kokoro Ozaki, Tetsuya Nagata, Shoji Tsuji
Neurology and Clinical Neuroscience 2024年