Søgeresultater - Hashiguchi, Akihiro

A Novel PRPS1 Mutation in a Japanese Patient with CMTX5 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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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