Výsledky vyhledávání - Hashiguchi, Akihiro

A Novel PRPS1 Mutation in a Japanese Patient with CMTX5 Autor Shirakawa, Shunichi, Murakami, Tatsufumi, Hashiguchi, Akihiro, Takashima, Hiroshi, Hasegawa, Hiroshi, Ichida, Kimiyoshi, Sunada, Yoshihide

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Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening Autor Aoki, Sho, Nagashima, Kazuaki, Shibata, Makoto, Kasahara, Hiroo, Fujita, Yukio, Hashiguchi, Akihiro, Takashima, Hiroshi, Ikeda, Yoshio

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Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan Autor Yoshimura, Akiko, Yuan, Jun-Hui, Hashiguchi, Akihiro, Ando, Masahiro, Higuchi, Yujiro, Nakamura, Tomonori, Okamoto, Yuji, Nakagawa, Masanori, Takashima, Hiroshi

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Histopathologic differences between human T-lymphotropic virus type 1 (HTLV-1)-positive and HTLV-1-negative polymyositis Autor Abdullah, Hazem M, Higuchi, Itsuro, Kubota, Ryuji, Matsuura, Eiji, Hashiguchi, Akihiro, Abdelbary, Nashwa H, Inamori, Yukie, Takashima, Hiroshi, Izumo, Shuji

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An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness Autor Kimura, Yasuyoshi, Nishikawa, Akira, Hashiguchi, Akihiro, Etoh, Masaki, Yoshimura, Akiko, Asai, Kanako, Miyashita, Noriko, Takashima, Hiroshi, Sumi, Hisae, Naka, Takashi

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Peripheral neuropathy in a case with CADASIL: a case report Autor Sakiyama, Yusuke, Matsuura, Eiji, Maki, Yoshimitsu, Yoshimura, Akiko, Ando, Masahiro, Nomura, Miwa, Shinohara, Kazuya, Saigo, Ryuji, Nakamura, Tomonori, Hashiguchi, Akihiro, Takashima, Hiroshi

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Cryptococcus Meningitis Can Co-occur with Anti-NMDA Receptor Encephalitis Autor Sakiyama, Yusuke, Matsuura, Eiji, Shigehisa, Ayano, Hamada, Yuki, Dozono, Mika, Nozuma, Satoshi, Nakamura, Tomonori, Higashi, Keiko, Hashiguchi, Akihiro, Takahashi, Yukitoshi, Takashima, Hiroshi

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(Pro)renin receptor accelerates development of sarcopenia via activation of Wnt/YAP signaling axis Autor Yoshida, Naohiro, Endo, Jin, Kinouchi, Kenichiro, Kitakata, Hiroki, Moriyama, Hidenori, Kataoka, Masaharu, Yamamoto, Tsunehisa, Shirakawa, Kohsuke, Morimoto, Satoshi, Nishiyama, Akira, Hashiguchi, Akihiro, Higuchi, Itsuro, Fukuda, Keiichi, Ichihara, Atsuhiro, Sano, Motoaki

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Clinical and genetic diversities of Charcot‐Marie‐Tooth disease with MFN2 mutations in a large case study Autor Ando, Masahiro, Hashiguchi, Akihiro, Okamoto, Yuji, Yoshimura, Akiko, Hiramatsu, Yu, Yuan, Junhui, Higuchi, Yujiro, Mitsui, Jun, Ishiura, Hiroyuki, Umemura, Ayako, Maruyama, Koichi, Matsushige, Takeshi, Morishita, Shinichi, Nakagawa, Masanori, Tsuji, Shoji, Takashima, Hiroshi

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Genetic spectrum of Charcot–Marie–Tooth disease associated with myelin protein zero gene variants in Japan Autor Taniguchi, Takaki, Ando, Masahiro, Okamoto, Yuji, Yoshimura, Akiko, Higuchi, Yujiro, Hashiguchi, Akihiro, Shiga, Kensuke, Hayashida, Arisa, Hatano, Taku, Ishiura, Hiroyuki, Mitsui, Jun, Hattori, Nobutaka, Mizuno, Toshiki, Nakagawa, Masanori, Tsuji, Shoji, Takashima, Hiroshi

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Novel de novo POLR3B mutations responsible for demyelinating Charcot–Marie–Tooth disease in Japan Autor Ando, Masahiro, Higuchi, Yujiro, Yuan, Jun‐Hui, Yoshimura, Akiko, Kitao, Ruriko, Morimoto, Takehiko, Taniguchi, Takaki, Takeuchi, Mika, Takei, Jun, Hiramatsu, Yu, Sakiyama, Yusuke, Hashiguchi, Akihiro, Okamoto, Yuji, Mitsui, Jun, Ishiura, Hiroyuki, Tsuji, Shoji, Takashima, Hiroshi

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Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible Autor Ando, Masahiro, Higuchi, Yujiro, Yuan, Junhui, Yoshimura, Akiko, Taniguchi, Takaki, Kojima, Fumikazu, Noguchi, Yutaka, Hobara, Takahiro, Takeuchi, Mika, Takei, Jun, Hiramatsu, Yu, Sakiyama, Yusuke, Hashiguchi, Akihiro, Okamoto, Yuji, Mitsui, Jun, Ishiura, Hiroyuki, Tsuji, Shoji, Takashima, Hiroshi

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Novel heterozygous variants of SLC12A6 in Japanese families with Charcot–Marie–Tooth disease Autor Ando, Masahiro, Higuchi, Yujiro, Yuan, Junhui, Yoshimura, Akiko, Taniguchi, Takaki, Takei, Jun, Takeuchi, Mika, Hiramatsu, Yu, Shimizu, Fumitaka, Kubota, Masaya, Takeshima, Akari, Ueda, Takehiro, Koh, Kishin, Nagaoka, Utako, Tokashiki, Takashi, Sawai, Setsu, Sakiyama, Yusuke, Hashiguchi, Akihiro, Sato, Ryota, Kanda, Takashi, Okamoto, Yuji, Takashima, Hiroshi

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Clinical and genetic features of Charcot‐Marie‐Tooth disease 2F and hereditary motor neuropathy 2B in Japan Autor Tanabe, Hajime, Higuchi, Yujiro, Yuan, Jun‐Hui, Hashiguchi, Akihiro, Yoshimura, Akiko, Ishihara, Satoshi, Nozuma, Satoshi, Okamoto, Yuji, Matsuura, Eiji, Ishiura, Hiroyuki, Mitsui, Jun, Takashima, Ryotaro, Kokubun, Norito, Maeda, Kengo, Asano, Yuri, Sunami, Yoko, Kono, Yu, Ishigaki, Yasunori, Yanamoto, Shosaburo, Fukae, Jiro, Kida, Hiroshi, Morita, Mitsuya, Tsuji, Shoji, Takashima, Hiroshi

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Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes Autor Hiramatsu, Yu, Okamoto, Yuji, Yoshimura, Akiko, Yuan, Jun-Hui, Ando, Masahiro, Higuchi, Yujiro, Hashiguchi, Akihiro, Matsuura, Eiji, Nozaki, Fumihito, Kumada, Tomohiro, Murayama, Kei, Suzuki, Mikiya, Yamamoto, Yuki, Matsui, Naoko, Miyazaki, Yoshimichi, Yamaguchi, Masamitsu, Suzuki, Youji, Mitsui, Jun, Ishiura, Hiroyuki, Tanaka, Masaki, Morishita, Shinichi, Nishino, Ichizo, Tsuji, Shoji, Takashima, Hiroshi

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The updated retrospective questionnaire study of sporadic inclusion body myositis in Japan Autor Suzuki, Naoki, Mori-Yoshimura, Madoka, Yamashita, Satoshi, Nakano, Satoshi, Murata, Ken-ya, Mori, Megumi, Inamori, Yukie, Matsui, Naoko, Kimura, En, Kusaka, Hirofumi, Kondo, Tomoyoshi, Ito, Hidefumi, Higuchi, Itsuro, Hashiguchi, Akihiro, Nodera, Hiroyuki, Kaji, Ryuji, Tateyama, Maki, Izumi, Rumiko, Ono, Hiroya, Kato, Masaaki, Warita, Hitoshi, Takahashi, Toshiaki, Nishino, Ichizo, Aoki, Masashi

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Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy Autor Higuchi, Yujiro, Okunushi, Ryuta, Hara, Taichi, Hashiguchi, Akihiro, Yuan, Junhui, Yoshimura, Akiko, Murayama, Kei, Ohtake, Akira, Ando, Masahiro, Hiramatsu, Yu, Ishihara, Satoshi, Tanabe, Hajime, Okamoto, Yuji, Matsuura, Eiji, Ueda, Takehiro, Toda, Tatsushi, Yamashita, Sumimasa, Yamada, Kenichiro, Koide, Takashi, Yaguchi, Hiroaki, Mitsui, Jun, Ishiura, Hiroyuki, Yoshimura, Jun, Doi, Koichiro, Morishita, Shinichi, Sato, Ken, Nakagawa, Masanori, Yamaguchi, Masamitsu, Tsuji, Shoji, Takashima, Hiroshi

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New type of encephalomyelitis responsive to trimethoprim/sulfamethoxazole treatment in Japan Autor Sakiyama, Yusuke, Kanda, Naoaki, Higuchi, Yujiro, Yoshimura, Michiyoshi, Wakaguri, Hiroyuki, Takata, Yoshiharu, Watanabe, Osamu, Yuan, Junhui, Tashiro, Yuichi, Saigo, Ryuji, Nozuma, Satoshi, Yoshimura, Akiko, Arishima, Shiho, Ikeda, Kenichi, Shinohara, Kazuya, Arata, Hitoshi, Michizono, Kumiko, Higashi, Keiko, Hashiguchi, Akihiro, Okamoto, Yuji, Hirano, Ryuki, Shiraishi, Tadafumi, Matsuura, Eiji, Okubo, Ryuichi, Higuchi, Itsuro, Goto, Masamichi, Hirano, Hirofumi, Sano, Akira, Iwasaki, Takuya, Matsuda, Fumihiko, Izumo, Shuji, Takashima, Hiroshi

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Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2 Autor Higuchi, Yujiro, Hashiguchi, Akihiro, Yuan, Junhui, Yoshimura, Akiko, Mitsui, Jun, Ishiura, Hiroyuki, Tanaka, Masaki, Ishihara, Satoshi, Tanabe, Hajime, Nozuma, Satoshi, Okamoto, Yuji, Matsuura, Eiji, Ohkubo, Ryuichi, Inamizu, Saeko, Shiraishi, Wataru, Yamasaki, Ryo, Ohyagi, Yasumasa, Kira, Jun‐ichi, Oya, Yasushi, Yabe, Hayato, Nishikawa, Noriko, Tobisawa, Shinsuke, Matsuda, Nozomu, Masuda, Masayuki, Kugimoto, Chiharu, Fukushima, Kazuhiro, Yano, Satoshi, Yoshimura, Jun, Doi, Koichiro, Nakagawa, Masanori, Morishita, Shinichi, Tsuji, Shoji, Takashima, Hiroshi

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Clinicopathological features of adult-onset neuronal intranuclear inclusion disease Autor Sone, Jun, Mori, Keiko, Inagaki, Tomonori, Katsumata, Ryu, Takagi, Shinnosuke, Yokoi, Satoshi, Araki, Kunihiko, Kato, Toshiyasu, Nakamura, Tomohiko, Koike, Haruki, Takashima, Hiroshi, Hashiguchi, Akihiro, Kohno, Yutaka, Kurashige, Takashi, Kuriyama, Masaru, Takiyama, Yoshihisa, Tsuchiya, Mai, Kitagawa, Naoyuki, Kawamoto, Michi, Yoshimura, Hajime, Suto, Yutaka, Nakayasu, Hiroyuki, Uehara, Naoko, Sugiyama, Hiroshi, Takahashi, Makoto, Kokubun, Norito, Konno, Takuya, Katsuno, Masahisa, Tanaka, Fumiaki, Iwasaki, Yasushi, Yoshida, Mari, Sobue, Gen

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