論文 - 石浦 浩之
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A novel de novo disease-causing variant in ATL1 in a pediatric patient with spastic paraplegia
Ayumi Nakamura, Hiroya Naruse, Akihiko Mitsutake, Jun Mitsui, Shinichi Morishita, Mie Iwakoshi, Hiroyuki Ishiura, Shoji Tsuji, Tatsushi Toda
Neurology and Clinical Neuroscience 2024年
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神経伝導検査と免疫固定電気泳動法からPOEMS症候群と診断し得た59歳男性例 査読
時村 瞭, 原 涼, 久保田 暁, 石浦 浩之, 小玉 聡, 代田 悠一郎, 濱田 雅, 戸田 達史
臨床神経生理学 51 ( 6 ) 651 - 657 2023年12月
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Case Report: Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2. 査読
Saki Nakashima, Masashi Hamada, Tomohiko Kimura, Shuichi Tanifuji, Akiko Takahashi, Daiki Yashita, Yu Kakimoto, Takashi Matsukawa, Hiroyuki Ishiura, Tatsushi Toda
Internal medicine (Tokyo, Japan) 63 ( 12 ) 1807 - 1812 2023年11月
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Protective Effects of Rivaroxaban on White Matter Integrity and Remyelination in a Mouse Model of Alzheimer's Disease Combined with Cerebral Hypoperfusion. 査読 国際誌
Zhihong Bian, Xinran Hu, Xia Liu, Haibo Yu, Yuting Bian, Hongming Sun, Yusuke Fukui, Ryuta Morihara, Hiroyuki Ishiura, Toru Yamashita
Journal of Alzheimer's disease : JAD 96 ( 2 ) 609 - 622 2023年10月
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脊髄性筋萎縮症患者7名に対するリスジプラムの治療効果
山下 徹, 柚木 太淳, 中田 有美, 松岡 千加, 佐々木 涼, 田所 功, 中野 由美子, 武本 麻美, 森原 隆太, 石浦 浩之
臨床神経学 63 ( Suppl. ) S215 - S215 2023年9月
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Foix-Chavany-Marie症候群を呈した持続性部分てんかんの一例
佐々木 諒, 柚木 太淳, 中田 有美, 松岡 千加, 田所 功, 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 63 ( 9 ) 620 - 620 2023年9月
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抗AQP4抗体陽性のNMOsd患者の髄液におけるIL-6測定の有用性の検討
柚木 太淳, 中田 有美, 松岡 千加, 田所 功, 佐々木 諒, 中野 由美子, 武本 麻実, 森原 隆太, 山下 徹, 石浦 浩之
臨床神経学 63 ( Suppl. ) S298 - S298 2023年9月
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70代以降意識減損・消失発作が増悪し,抗てんかん薬の調整に難渋した良性成人型家族性ミオクローヌスてんかん1型の80歳女性例
高橋 健祐, 栗原 正典, 東原 真奈, 松平 敬史, 広吉 祐子, 松川 美穂, 石浦 浩之, 岩田 淳
臨床神経学 63 ( 9 ) 604 - 604 2023年9月
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当院で経験した脊髄小脳変性症7型2家系の臨床的検討
吉田 千晴, 小松 大樹, 馬場 智也, 後藤 良司, 首藤 篤史, 松川 敬志, 石浦 浩之, 三井 純, 中森 知毅, 市川 弥生子, 後藤 順, 中村 奈津子, 角田 和繁, 小畑 亮, 澤村 裕正, 戸田 達史
臨床神経学 63 ( Suppl. ) S298 - S298 2023年9月
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A Case of Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1. 査読
Naoki Takegami, Takashi Matsukawa, Masashi Hamada, Shuichi Tanifuji, Takayuki Tamura, Nanaka Yamaguchi-Takegami, Hiroyuki Ishiura, Jun Mitsui, Kaori Sakuishi, Shoji Tsuji, Tatsushi Toda
Internal medicine (Tokyo, Japan) 63 ( 7 ) 999 - 1004 2023年8月
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Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease. 査読
Nanaka Yamaguchi-Takegami, Akiko Takahashi, Jun Mitsui, Yusuke Sugiyama, Ayaka Chikada, Kristine Joyce L Porto, Naoki Takegami, Kaori Sakuishi, Hiroyuki Ishiura, Kaoru Yamada, Jun Shimizu, Shoji Tsuji, Tatsushi Toda
Internal medicine (Tokyo, Japan) 63 ( 6 ) 861 - 865 2023年8月
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A Japanese family with idiopathic basal ganglia calcification carrying a novel XPR1 variant 査読 国際誌
Kenta Orimo, Toshiyuki Kakumoto, Ryo Hara, Ryoji Goto, Hiroyuki Ishiura, Jun Mitsui, Chiharu Yoshida, Yoshikazu Uesaka, Yuta Suzuki, Shinichi Morishita, Wataru Satake, Shoji Tsuji, Tatsushi Toda
Journal of the Neurological Sciences 451 120732 - 120732 2023年7月
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Anti-neurofascin 155 Antibody-positive Neuropathy in a Human Immunodeficiency Virus-infected Patient. 査読
So Okubo, Tatsuo Mano, Atsushi Sudo, Ryoji Goto, Satoka Yano, Manato Hara, Hiroyuki Ishiura, Wataru Satake, Shintaro Yanagimoto, Hidenori Ogata, Tatsushi Toda
Internal medicine (Tokyo, Japan) 63 ( 4 ) 565 - 569 2023年6月
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Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution. 査読 国際誌
Priya Jagota, Yoshikazu Ugawa, Zakiyah Aldaajani, Norlinah Mohamed Ibrahim, Hiroyuki Ishiura, Yoshiko Nomura, Shoji Tsuji, Cid Diesta, Nobutaka Hattori, Osamu Onodera, Saeed Bohlega, Amir S N AlDin, Shen-Yang Lim, Jee-Young Lee, Beomseok Jeon, Pramod Kumar Pal, Huifang Shang, Shinsuke Fujioka, Prashanth Lingappa Kukkle, Onanong Phokaewvarangkul, Chin-Hsien Lin, Cholpon Shambetova, Roongroj Bhidayasiri
Journal of movement disorders 16 ( 3 ) 231 - 247 2023年6月
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Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability. 査読 国際誌
Christel Depienne, Arn M J M van den Maagdenberg, Theresa Kühnel, Hiroyuki Ishiura, Mark A Corbett, Shoji Tsuji
Epilepsia 64 Suppl 1 S31-S38 2023年6月
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Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy. 査読 国際誌
Toshiyuki Kakumoto, Takashi Matsukawa, Hiroyuki Ishiura, Harushi Mori, Shoji Tsuji, Tatsushi Toda
Annals of clinical and translational neurology 10 ( 7 ) 1230 - 1238 2023年5月
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Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1. 査読 国際誌
Hiroya Naruse, So Okubo, Atsushi Sudo, Jun Mitsui, Takashi Mikata, Hiroyuki Ishiura, Shinichi Morishita, Shoji Tsuji, Tatsushi Toda
Journal of the peripheral nervous system : JPNS 28 ( 3 ) 518 - 521 2023年5月
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Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies. 査読 国際誌
Norifumi Kawamoto, Yuichi Hamada, Shunsuke Kobayashi, Hiroya Naruse, Hiroyuki Ishiura, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji, Masahiro Sonoo, Tatsushi Toda
Journal of the peripheral nervous system : JPNS 28 ( 3 ) 513 - 517 2023年5月
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Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy. 国際誌
Yasuo Nakahara, Jun Mitsui, Hidetoshi Date, Kristine Joyce Porto, Yasuhiro Hayashi, Atsushi Yamashita, Yoshio Kusakabe, Takashi Matsukawa, Hiroyuki Ishiura, Tsutomu Yasuda, Atsushi Iwata, Jun Goto, Yaeko Ichikawa, Yoshio Momose, Yuji Takahashi, Tatsushi Toda, Rikifumi Ohta, Jun Yoshimura, Shinichi Morishita, Emil K Gustavsson, Darren Christy, Melissa Maczis, Matthew J Farrer, Han-Joon Kim, Sung-Sup Park, Beomseok Jeon, Jin Zhang, Weihong Gu, Sonja W Scholz, Andrew B Singleton, Henry Houlden, Ichiro Yabe, Hidenao Sasaki, Masaaki Matsushima, Hiroshi Takashima, Akio Kikuchi, Masashi Aoki, Kenju Hara, Akiyoshi Kakita, Mitsunori Yamada, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa, Hirohisa Watanabe, Mizuki Ito, Gen Sobue, Kinya Ishikawa, Hidehiro Mizusawa, Kazuaki Kanai, Satoshi Kuwabara, Kimihito Arai, Shigeru Koyano, Yoshiyuki Kuroiwa, Kazuko Hasegawa, Tatsuhiko Yuasa, Kenichi Yasui, Kenji Nakashima, Hijiri Ito, Yuishin Izumi, Ryuji Kaji, Takeo Kato, Susumu Kusunoki, Yasushi Osaki, Masahiro Horiuchi, Ken Yamamoto, Mihoko Shimada, Taku Miyagawa, Yosuke Kawai, Nao Nishida, Katsushi Tokunaga, Alexandra Dürr, Alexis Brice, Alessandro Filla, Thomas Klockgether, Ullrich Wüllner, Caroline M Tanner, Walter A Kukull, Virginia M-Y Lee, Eliezer Masliah, Phillip A Low, Paola Sandroni, Laurie Ozelius, Tatiana Foroud, Shoji Tsuji
medRxiv : the preprint server for health sciences 2023年5月
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A case of intravascular lymphoma presenting with a lesion in the splenium of the corpus callosum. 査読 国際誌
Haruka Masuzawa, Fumio Suzuki, Shiori Amemiya, Kenta Orimo, Hiroyuki Ishiura, Ryo Hara, Tatsushi Toda, Teruo Nakazawa, Akira Honda, Mariko Tanaka, Munetoshi Hinata, Osamu Abe
Radiology case reports 18 ( 5 ) 1929 - 1932 2023年5月