論文 - 石浦 浩之
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High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial. 査読 国際誌
Jun Mitsui, Takashi Matsukawa, Yukari Uemura, Takuya Kawahara, Ayaka Chikada, Kristine Joyce L Porto, Hiroya Naruse, Masaki Tanaka, Hiroyuki Ishiura, Tatsushi Toda, Haruko Kuzuyama, Mari Hirano, Ikue Wada, Toshio Ga, Takashi Moritoyo, Yuji Takahashi, Hidehiro Mizusawa, Kinya Ishikawa, Takanori Yokota, Satoshi Kuwabara, Nobukatsu Sawamoto, Ryosuke Takahashi, Koji Abe, Tomohiko Ishihara, Osamu Onodera, Dai Matsuse, Ryo Yamasaki, Jun-Ichi Kira, Masahisa Katsuno, Ritsuko Hanajima, Katsuhisa Ogata, Hiroshi Takashima, Masaaki Matsushima, Ichiro Yabe, Hidenao Sasaki, Shoji Tsuji
EClinicalMedicine 59 101920 - 101920 2023年5月
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Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe disease. 査読 国際誌
Akihiko Mitsutake, Takashi Matsukawa, Atsushi Iwata, Hiroyuki Ishiura, Jun Mitsui, Harushi Mori, Takashi Toya, Akira Honda, Mineo Kurokawa, Norio Sakai, Shoji Tsuji, Tatsushi Toda
Brain & development 45 ( 7 ) 408 - 412 2023年4月
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Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder. 招待 査読 国際誌
Hiroyuki Ishiura, Shoji Tsuji, Tatsushi Toda
Journal of human genetics 68 ( 3 ) 169 - 174 2023年3月
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The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation. 査読
Naoki Takegami, Akihiko Mitsutake, Tatsuo Mano, Yukako Shintani-Domoto, Atsushi Unuma, Nanaka Yamaguchi-Takegami, Hiroyuki Ishiura, Kaori Sakuishi, Masahiko Ando, Haruo Yamauchi, Minoru Ono, Shinichi Morishita, Jun Mitsui, Jun Shimizu, Shoji Tsuji, Tatsushi Toda
Internal medicine (Tokyo, Japan) 62 ( 19 ) 2883 - 2887 2023年2月
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Proteomic profile of nuclei containing p62-positive inclusions in a patient with neuronal intranuclear inclusion disease. 査読 国際誌
Masanori Kurihara, Tatsuo Mano, Fumihiro Eto, Ikuko Yao, Kenichiro Sato, Gaku Ohtomo, Taro Bannai, Shota Shibata, Hiroyuki Ishiura, Masako Ikemura, Tomoyasu Matsubara, Maho Morishima, Yuko Saito, Shigeo Murayama, Tatsushi Toda, Mitsutoshi Setou, Atsushi Iwata
Neurobiology of disease 177 105989 - 105989 2023年1月
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Hirokazu Uchigami, Masashi Hamada, Hirotaka Maekawa, Hiroyuki Ishiura, Satoshi Kodama, Yuichiro Shirota, Miwako Takahashi, Toshimitsu Momose, Tatsushi Toda
Internal Medicine 63 ( 2 ) 333 - 336 2023年
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A novel homozygous nonsense variant of LMF1 in pregnancy-induced hypertriglyceridemia with acute pancreatitis. 査読 国際誌
Masaki Tanaka, Satoru Takase, Hiroyuki Ishiura, Toshimasa Yamauchi, Sachiko Okazaki, Hiroaki Okazaki
Journal of clinical lipidology 17 ( 3 ) 327 - 331 2023年
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CSF P-Tau181 and Other Biomarkers in Patients With Neuronal Intranuclear Inclusion Disease 査読 国際誌
Masanori Kurihara, Hiroki Komatsu, Renpei Sengoku, Mari Shibukawa, Satoru Morimoto, Tomoyasu Matsubara, Akira Arakawa, Makoto Orita, Kenji Ishibashi, Akihiko Mitsutake, Shota Shibata, Hiroyuki Ishiura, Kaori Adachi, Kensuke Ohse, Keiko Hatano, Ryoko Ihara, Mana Higashihara, Yasushi Nishina, Aya Midori Tokumaru, Kenji Ishii, Yuko Saito, Shigeo Murayama, Kazutomi Kanemaru, Atsushi Iwata
Neurology 100 ( 10 ) 10.1212/WNL.0000000000201647 - 10.1212/WNL.0000000000201647 2022年12月
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APOE Alleles With Tau and Aβ Pathology in Patients With Amyotrophic Lateral Sclerosis and Parkinsonism-Dementia Complex in the Kii Peninsula. 査読 国際誌
Ryogen Sasaki, Satoru Morimoto, Fumiko Ozawa, Hideyuki Okano, Mari Yoshida, Hiroyuki Ishiura, Shoji Tsuji, Shigeki Kuzuhara, Yasumasa Kokubo
Neurology 99 ( 22 ) e2437-e2442 2022年11月
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Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report. 査読 国際誌
Ryota Kobayashi, Hiroya Naruse, Shinobu Kawakatsu, Chifumi Iseki, Yuya Suzuki, Shingo Koyama, Daichi Morioka, Hiroyuki Ishiura, Jun Mitsui, Yasuyuki Ohta, Shoji Tsuji, Tatsushi Toda, Koichi Otani
BMC neurology 22 ( 1 ) 406 - 406 2022年11月
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The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15 査読
Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang, Oleksandr Strelko, Sonja Neuser, Marie Y Davis, Nobuaki Yoshikura, Naonobu Futamura, Tomoya Takeuchi, Shin Nabatame, Hiroyuki Ishiura, Shoji Tsuji, Huda Shujaa Aldeen, Elisa Cali, Clarissa Rocca, Henry Houlden, Stephanie Efthymiou, Birgit Assmann, Grace Yoon, Bianca A Trombetta, Pia Kivisäkk, Florian Eichler, Haitian Nan, Yoshihisa Takiyama, Alessandra Tessa, Filippo M Santorelli, Mustafa Sahin, Craig Blackstone, Edward Yang, Rebecca Schüle, Darius Ebrahimi-Fakhari
Brain 2022年10月
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A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity. 査読 国際誌
Yuka Hama, Hidetoshi Date, Akiko Fujimoto, Ayano Matsui, Hiroyuki Ishiura, Jun Mitsui, Toshiyuki Yamamoto, Shoji Tsuji, Hidehiro Mizusawa, Yuji Takahashi
Cerebellum (London, England) 2022年10月
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Asymptomatic myocardial infarction in a patient with myotonic dystrophy type 1. 査読
Yuka Seki, Takanobu Yamada, Arihiro Kiyosue, Koichi Kimura, Masae Uehara, Masaru Hatano, Takayoshi Sasako, Yuichiro Shirota, Atsushi Sudo, Hiroyuki Ishiura, Tatsushi Toda, Toshimasa Yamauchi, Issei Komuro
Journal of cardiology cases 26 ( 4 ) 248 - 251 2022年10月
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Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson's Disease. 査読 国際誌
Takashi Matsukawa, Kristine Joyce L Porto, Jun Mitsui, Ayaka Chikada, Hiroyuki Ishiura, Yuji Takahashi, Fumiko Kusunoki Nakamoto, Tomonari Seki, Yasushi Shiio, Tatsushi Toda, Shoji Tsuji
Cerebellum (London, England) 2022年9月
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A Case of Copper Deficiency in Wilson's Disease with a Normal Zinc Value. 査読
Masayuki Ueda, Kazuto Katsuse, Toshiyuki Kakumoto, Satoshi Kobayashi, Hiroyuki Ishiura, Jun Mitsui, Tatsushi Toda
Internal medicine (Tokyo, Japan) 62 ( 7 ) 1073 - 1076 2022年8月
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Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations. 査読 国際誌
Hiroki Hongo, Satoru Miyawaki, Yu Teranishi, Jun Mitsui, Hiroto Katoh, Daisuke Komura, Kinya Tsubota, Takashi Matsukawa, Masakatsu Watanabe, Masakazu Kurita, Jun Yoshimura, Shogo Dofuku, Kenta Ohara, Daiichiro Ishigami, Atsushi Okano, Motoi Kato, Fumihiko Hakuno, Ayaka Takahashi, Akiko Kunita, Hiroyuki Ishiura, Masahiro Shin, Hirofumi Nakatomi, Toshitaka Nagao, Hiroshi Goto, Shin-Ichiro Takahashi, Tetsuo Ushiku, Shumpei Ishikawa, Mutsumi Okazaki, Shinichi Morishita, Shoji Tsuji, Nobuhito Saito
Angiogenesis 26 ( 1 ) 37 - 52 2022年7月
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Keiko Hatano, Hidetoshi Date, Hiroyuki Ishiura, Takashi Matsukawa, Masaki Tanaka, Jun Mitsui, Jun Goto, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji
Neurology and Clinical Neuroscience 10 ( 4 ) 210 - 217 2022年7月
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Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible. 査読 国際誌
Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi, Fumikazu Kojima, Yutaka Noguchi, Takahiro Hobara, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Yuji Okamoto, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
Biomedicines 10 ( 7 ) 2022年6月
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Hiroki Yagi, Norifumi Takeda, Eisuke Amiya, Nana Akiyama, Hyangri Chang, Hiroyuki Ishiura, Jiro Sato, Hiroshi Akazawa, Hiroyuki Morita, Issei Komuro
American Journal of Medical Genetics Part A 2022年5月
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<scp>TDP</scp> ‐43 Proteinopathy Presenting with Typical Symptoms of Parkinson's Disease 査読
Rika Yamashita, Goichi Beck, Yuki Yonenobu, Kimiko Inoue, Akihiko Mitsutake, Hiroyuki Ishiura, Masato Hasegawa, Shigeo Murayama, Hideki Mochizuki
Movement Disorders 2022年5月