Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy
Suzuki, Naoki, Nishiyama, Ayumi, Warita, Hitoshi, Aoki, Masashi
Published in Journal of human genetics (01.03.2023)
Published in Journal of human genetics (01.03.2023)
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Omics Approach to Axonal Dysfunction of Motor Neurons in Amyotrophic Lateral Sclerosis (ALS)
Suzuki, Naoki, Akiyama, Tetsuya, Warita, Hitoshi, Aoki, Masashi
Published in Frontiers in neuroscience (25.03.2020)
Published in Frontiers in neuroscience (25.03.2020)
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Journal Article
The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain
Izumi, Rumiko, Takahashi, Toshiaki, Suzuki, Naoki, Niihori, Tetsuya, Ono, Hiroya, Nakamura, Naoko, Katada, Shinichi, Kato, Masaaki, Warita, Hitoshi, Tateyama, Maki, Aoki, Yoko, Aoki, Masashi
Published in Human mutation (01.09.2020)
Published in Human mutation (01.09.2020)
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Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis
Nishiyama, Ayumi, Niihori, Tetsuya, Warita, Hitoshi, Izumi, Rumiko, Akiyama, Tetsuya, Kato, Masaaki, Suzuki, Naoki, Aoki, Yoko, Aoki, Masashi
Published in Neurobiology of aging (01.05.2017)
Published in Neurobiology of aging (01.05.2017)
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Journal Article
MOG Antibody-Associated Disorders Following SARS-CoV-2 Vaccination: A Case Report and Literature Review
Matsumoto, Yuki, Ohyama, Ayane, Kubota, Takafumi, Ikeda, Kensuke, Kaneko, Kimihiko, Takai, Yoshiki, Warita, Hitoshi, Takahashi, Toshiyuki, Misu, Tatsuro, Aoki, Masashi
Published in Frontiers in neurology (01.03.2022)
Published in Frontiers in neurology (01.03.2022)
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Journal Article
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy
Inoue-Shibui, Aya, Niihori, Tetsuya, Kobayashi, Michio, Suzuki, Naoki, Izumi, Rumiko, Warita, Hitoshi, Hara, Kenju, Shirota, Matsuyuki, Funayama, Ryo, Nakayama, Keiko, Nishino, Ichizo, Aoki, Masashi, Aoki, Yoko
Published in Journal of human genetics (01.10.2021)
Published in Journal of human genetics (01.10.2021)
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Journal Article
Sporadic inclusion body myositis-derived myotube culture revealed muscle cell-autonomous expression profiles
Suzuki, Naoki, Kanzaki, Makoto, Koide, Masashi, Izumi, Rumiko, Fujita, Ryo, Takahashi, Tadahisa, Ogawa, Kazumi, Yabe, Yutaka, Tsuchiya, Masahiro, Suzuki, Masako, Harada, Ryuhei, Ohno, Akiyuki, Ono, Hiroya, Nakamura, Naoko, Ikeda, Kensuke, Warita, Hitoshi, Osana, Shion, Oikawa, Yoshitsugu, Toyohara, Takafumi, Abe, Takaaki, Rui, Muliang, Ebihara, Satoru, Nagatomi, Ryoichi, Hagiwara, Yoshihiro, Aoki, Masashi
Published in PloS one (01.08.2024)
Published in PloS one (01.08.2024)
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Journal Article
Spinal Cord Infarction in an Adolescent with Protein S Deficiency: A Case Report and Literature Review
Kubota, Takafumi, Hosaka, Tatsuhiko, Ando, Daisuke, Ikeda, Kensuke, Izumi, Rumiko, Misu, Tatsuro, Warita, Hitoshi, Aoki, Masashi
Published in Internal Medicine (15.08.2023)
Published in Internal Medicine (15.08.2023)
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Journal Article
Proteasome dysfunction induces muscle growth defects and protein aggregation
Kitajima, Yasuo, Tashiro, Yoshitaka, Suzuki, Naoki, Warita, Hitoshi, Kato, Masaaki, Tateyama, Maki, Ando, Risa, Izumi, Rumiko, Yamazaki, Maya, Abe, Manabu, Sakimura, Kenji, Ito, Hidefumi, Urushitani, Makoto, Nagatomi, Ryoichi, Takahashi, Ryosuke, Aoki, Masashi
Published in Journal of cell science (15.12.2014)
Published in Journal of cell science (15.12.2014)
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Journal Article
Altered Tau Isoform Ratio Caused by Loss of FUS and SFPQ Function Leads to FTLD-like Phenotypes
Ishigaki, Shinsuke, Fujioka, Yusuke, Okada, Yohei, Riku, Yuichi, Udagawa, Tsuyoshi, Honda, Daiyu, Yokoi, Satoshi, Endo, Kuniyuki, Ikenaka, Kensuke, Takagi, Shinnosuke, Iguchi, Yohei, Sahara, Naruhiko, Takashima, Akihiko, Okano, Hideyuki, Yoshida, Mari, Warita, Hitoshi, Aoki, Masashi, Watanabe, Hirohisa, Okado, Haruo, Katsuno, Masahisa, Sobue, Gen
Published in Cell reports (Cambridge) (31.01.2017)
Published in Cell reports (Cambridge) (31.01.2017)
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Journal Article
Videofluoroscopic Dysphagia Scale as an Additional Indicator of Gastrostomy in Patients with Amyotrophic Lateral Sclerosis with Dysphagia
Shijo, Tomomi, Ikeda, Ryoukichi, Suzuki, Naoki, Ohta, Jun, Suzuki, Jun, Hirano-Kawamoto, Ai, Kato, Kengo, Ikeda, Kensuke, Izumi, Rumiko, Mitsuzawa, Shio, Warita, Hitoshi, Kato, Masaaki, Aoki, Masashi, Katori, Yukio
Published in The Tohoku Journal of Experimental Medicine (2023)
Published in The Tohoku Journal of Experimental Medicine (2023)
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Journal Article
Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan
Mori-Yoshimura, Madoka, Suzuki, Naoki, Katsuno, Masahisa, Takahashi, Masanori P, Yamashita, Satoshi, Oya, Yasushi, Hashizume, Atsushi, Yamada, Shinichiro, Nakamori, Masayuki, Izumi, Rumiko, Kato, Masaaki, Warita, Hitoshi, Tateyama, Maki, Kuroda, Hiroshi, Asada, Ryuta, Yamaguchi, Takuhiro, Nishino, Ichizo, Aoki, Masashi
Published in Orphanet journal of rare diseases (11.08.2023)
Published in Orphanet journal of rare diseases (11.08.2023)
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Journal Article
Randomized phase 2 study of perampanel for sporadic amyotrophic lateral sclerosis
Aizawa, Hitoshi, Kato, Haruhisa, Oba, Koji, Kawahara, Takuya, Okubo, Yoshihiko, Saito, Tomoko, Naito, Makiko, Urushitani, Makoto, Tamaoka, Akira, Nakamagoe, Kiyotaka, Ishii, Kazuhiro, Kanda, Takashi, Katsuno, Masahisa, Atsuta, Naoki, Maeda, Yasushi, Nagai, Makiko, Nishiyama, Kazutoshi, Ishiura, Hiroyuki, Toda, Tatsushi, Kawata, Akihiro, Abe, Koji, Yabe, Ichiro, Takahashi-Iwata, Ikuko, Sasaki, Hidenao, Warita, Hitoshi, Aoki, Masashi, Sobue, Gen, Mizusawa, Hidehiro, Matsuyama, Yutaka, Haga, Tomohiro, Kwak, Shin
Published in Journal of neurology (01.02.2022)
Published in Journal of neurology (01.02.2022)
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The clinical practice guideline for the management of amyotrophic lateral sclerosis in Japan-update 2023
Urushitani, Makoto, Warita, Hitoshi, Atsuta, Naoki, Izumi, Yuishin, Kano, Osamu, Shimizu, Toshio, Nakayama, Yuki, Narita, Yugo, Nodera, Hiroyuki, Fujita, Takuji, Mizoguchi, Koichi, Morita, Mitsuya, Aoki, Masashi
Published in Rinsho shinkeigaku = Clinical neurology (2024)
Published in Rinsho shinkeigaku = Clinical neurology (2024)
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Journal Article
Long-term outcomes after surgery to prevent aspiration for patients with amyotrophic lateral sclerosis
Soga, Temma, Suzuki, Naoki, Kato, Kengo, Kawamoto-Hirano, Ai, Kawauchi, Yuko, Izumi, Rumiko, Toyoshima, Masaya, Mitsuzawa, Shio, Shijo, Tomomi, Ikeda, Kensuke, Warita, Hitoshi, Katori, Yukio, Aoki, Masashi, Kato, Masaaki
Published in BMC neurology (16.03.2022)
Published in BMC neurology (16.03.2022)
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Journal Article
Generation of an ALS human iPSC line KEIOi001-A from peripheral blood of a Charcot disease-affected patient carrying TARDBP p.N345K heterozygous SNP mutation
Leventoux, Nicolas, Morimoto, Satoru, Hara, Kenju, Nakamura, Shiho, Ozawa, Fumiko, Mitsuzawa, Shio, Akiyama, Tetsuya, Nishiyama, Ayumi, Suzuki, Naoki, Warita, Hitoshi, Aoki, Masashi, Okano, Hideyuki
Published in Stem cell research (01.08.2020)
Published in Stem cell research (01.08.2020)
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Journal Article
AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy
Ono, Hiroya, Suzuki, Naoki, Kanno, Shin-ichiro, Kawahara, Genri, Izumi, Rumiko, Takahashi, Toshiaki, Kitajima, Yasuo, Osana, Shion, Nakamura, Naoko, Akiyama, Tetsuya, Ikeda, Kensuke, Shijo, Tomomi, Mitsuzawa, Shio, Nagatomi, Ryoichi, Araki, Nobukazu, Yasui, Akira, Warita, Hitoshi, Hayashi, Yukiko K., Miyake, Katsuya, Aoki, Masashi
Published in Molecular therapy (08.04.2020)
Published in Molecular therapy (08.04.2020)
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Journal Article
Aberrant astrocytic expression of chondroitin sulfate proteoglycan receptors in a rat model of amyotrophic lateral sclerosis
Shijo, Tomomi, Warita, Hitoshi, Suzuki, Naoki, Kitajima, Yasuo, Ikeda, Kensuke, Akiyama, Tetsuya, Ono, Hiroya, Mitsuzawa, Shio, Nishiyama, Ayumi, Izumi, Rumiko, Aoki, Masashi
Published in Journal of neuroscience research (01.02.2018)
Published in Journal of neuroscience research (01.02.2018)
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Journal Article
Establishment of In Vitro FUS-Associated Familial Amyotrophic Lateral Sclerosis Model Using Human Induced Pluripotent Stem Cells
Ichiyanagi, Naoki, Fujimori, Koki, Yano, Masato, Ishihara-Fujisaki, Chikako, Sone, Takefumi, Akiyama, Tetsuya, Okada, Yohei, Akamatsu, Wado, Matsumoto, Takuya, Ishikawa, Mitsuru, Nishimoto, Yoshinori, Ishihara, Yasuharu, Sakuma, Tetsushi, Yamamoto, Takashi, Tsuiji, Hitomi, Suzuki, Naoki, Warita, Hitoshi, Aoki, Masashi, Okano, Hideyuki
Published in Stem cell reports (12.04.2016)
Published in Stem cell reports (12.04.2016)
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Journal Article
Corticotropin-Releasing Hormone Receptor 2 Gene Variants in Irritable Bowel Syndrome
Komuro, Hazuki, Sato, Naoko, Sasaki, Ayaka, Suzuki, Naoki, Kano, Michiko, Tanaka, Yukari, Yamaguchi-Kabata, Yumi, Kanazawa, Motoyori, Warita, Hitoshi, Aoki, Masashi, Fukudo, Shin
Published in PloS one (25.01.2016)
Published in PloS one (25.01.2016)
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