Works by Aoki, Masashi


Results: 187
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    Mirror writing and cortical hypometabolism in Parkinson's disease.

    Published in:
    PLoS ONE, 2022, v. 17, n. 12, p. 1, doi. 10.1371/journal.pone.0279007
    By:
    • Shinohara, Mayumi;
    • Yokoi, Kayoko;
    • Hirayama, Kazumi;
    • Kanno, Shigenori;
    • Hosokai, Yoshiyuki;
    • Nishio, Yoshiyuki;
    • Ishioka, Toshiyuki;
    • Otsuki, Mika;
    • Takeda, Atsushi;
    • Baba, Toru;
    • Aoki, Masashi;
    • Hasegawa, Takafumi;
    • Kikuchi, Akio;
    • Narita, Wataru;
    • Mori, Etsuro;
    • Suzuki, Kyoko
    Publication type:
    Article
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    Sortilin acts as an endocytic receptor for α‐synuclein fibril.

    Published in:
    FASEB Journal, 2023, v. 37, n. 7, p. 1, doi. 10.1096/fj.202201605RR
    By:
    • Ishiyama, Shun;
    • Hasegawa, Takafumi;
    • Sugeno, Naoto;
    • Kobayashi, Junpei;
    • Yoshida, Shun;
    • Miki, Yasuo;
    • Wakabayashi, Koichi;
    • Fukuda, Mitsunori;
    • Kawata, Yasushi;
    • Nakamura, Takaaki;
    • Sato, Kazuki;
    • Ezura, Michinori;
    • Kikuchi, Akio;
    • Takeda, Atsushi;
    • Aoki, Masashi
    Publication type:
    Article
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    A case of dysferlinopathy presenting choreic movements.

    Published in:
    Movement Disorders, 2006, v. 21, n. 9, p. 1513, doi. 10.1002/mds.21027
    By:
    • Takahashi, Toshiaki;
    • Aoki, Masashi;
    • Imai, Takashi;
    • Yoshioka, Masaru;
    • Konno, Hidehiko;
    • Higano, Shuichi;
    • Onodera, Yoshiaki;
    • Saito, Hiroshi;
    • Kimura, Itaru;
    • Itoyama, Yasuto
    Publication type:
    Article
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    Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

    Published in:
    Journal of Human Genetics, 2008, v. 53, n. 9, p. 834, doi. 10.1007/s10038-008-0320-0
    By:
    • Narumi, Yoko;
    • Aoki, Yoko;
    • Niihori, Tetsuya;
    • Sakurai, Masahiro;
    • Cavé, Hélène;
    • Verloes, Alain;
    • Nishio, Kimio;
    • Ohashi, Hirofumi;
    • Kurosawa, Kenji;
    • Okamoto, Nobuhiko;
    • Kawame, Hiroshi;
    • Mizuno, Seiji;
    • Kondoh, Tatsuro;
    • Addor, Marie-Claude;
    • Coeslier-Dieux, Anne;
    • Vincent-Delorme, Catherine;
    • Tabayashi, Koichi;
    • Aoki, Masashi;
    • Kobayashi, Tomoko;
    • Guliyeva, Afag
    Publication type:
    Article
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    Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02850-y
    By:
    • 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
    Publication type:
    Article
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    The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.

    Published in:
    Nature Genetics, 2001, v. 29, n. 2, p. 189, doi. 10.1038/ng1001-189
    By:
    • Moreira, Maria-Céu;
    • Barbot, Clara;
    • Tachi, Nobutada;
    • Kozuka, Naoki;
    • Uchida, Eiji;
    • Gibson, Toby;
    • Mendonça, Pedro;
    • Costa, Manuela;
    • Barros, José;
    • Yanagisawa, Takayuki;
    • Watanabe, Mitsunori;
    • Ikeda, Yoshio;
    • Aoki, Masashi;
    • Nagata, Tetsuya;
    • Coutinho, Paula;
    • Sequeiros, Jorge;
    • Koenig, Michel
    Publication type:
    Article
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    Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.

    Published in:
    Nature Genetics, 1998, v. 20, n. 1, p. 31, doi. 10.1038/1682
    By:
    • Liu, Jing;
    • Aoki, Masashi;
    • Illa, Isabel;
    • Wu, Chenyan;
    • Fardeau, Michel;
    • Angelini, Corrado;
    • Serrano, Carmen;
    • Urtizberea, J. Andoni;
    • Hentati, Faycal;
    • Hamida, Mongi Ben;
    • Bohlega, Saeed;
    • Culper, Edward J.;
    • Amato, Anthony A.;
    • Bossie, Karen;
    • Oeltjen, Joshua;
    • Bejaoui, Khemissa;
    • McKenna-Yasek, Diane;
    • Hosler, Betsy A.;
    • Schurr, Erwin
    Publication type:
    Article
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    Establishment of a novel amyotrophic lateral sclerosis patient (TARDBP <sup>N345K/+</sup>)-derived brain microvascular endothelial cell model reveals defective Wnt/β-catenin signaling: investigating diffusion barrier dysfunction and immune cell interaction.

    Published in:
    Frontiers in Cell & Developmental Biology, 2024, p. 01, doi. 10.3389/fcell.2024.1357204
    By:
    • Kinya Matsuo;
    • Jun Nagamatsu;
    • Kazuhiro Nagata;
    • Ryusei Umeda;
    • Takaya Shiota;
    • Satoru Morimoto;
    • Naoki Suzuki;
    • Masashi Aoki;
    • Hideyuki Okano;
    • Masayuki Nakamori;
    • Hideaki Nishihara
    Publication type:
    Article
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    White blood cell count profiles in anti-aquaporin-4 antibody seropositive neuromyelitis optica spectrum disorder and anti-myelin oligodendrocyte glycoprotein antibody-associated disease.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-33827-3
    By:
    • Akaishi, Tetsuya;
    • Misu, Tatsuro;
    • Fujihara, Kazuo;
    • Nakaya, Kumi;
    • Nakaya, Naoki;
    • Nakamura, Tomohiro;
    • Kogure, Mana;
    • Hatanaka, Rieko;
    • Itabashi, Fumi;
    • Kanno, Ikumi;
    • Kaneko, Kimihiko;
    • Takahashi, Toshiyuki;
    • Fujimori, Juichi;
    • Takai, Yoshiki;
    • Nishiyama, Shuhei;
    • Ishii, Tadashi;
    • Aoki, Masashi;
    • Nakashima, Ichiro;
    • Hozawa, Atsushi
    Publication type:
    Article
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    Respiratory and cardiac function in japanese patients with dysferlinopathy.

    Published in:
    2016
    By:
    • Nishikawa, Atsuko;
    • Mori‐Yoshimura, Madoka;
    • Segawa, Kazuhiko;
    • Hayashi, Yukiko K.;
    • Takahashi, Toshiaki;
    • Saito, Yuko;
    • Nonaka, Ikuya;
    • Krahn, Martin;
    • Levy, Nicolas;
    • Shimizu, Jun;
    • Mitsui, Jun;
    • Kimura, En;
    • Goto, Jun;
    • Yonemoto, Naohiro;
    • Aoki, Masashi;
    • Nishino, Ichizo;
    • Oya, Yasushi;
    • Murata, Miho
    Publication type:
    journal article
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