Rezultati - Hashiguchi, Akihiro

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

(Pro)renin receptor accelerates development of sarcopenia via activation of Wnt/YAP signaling axis od 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

Polni tekst Polni tekst Polni tekst

Clinical and genetic diversities of Charcot‐Marie‐Tooth disease with MFN2 mutations in a large case study od 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

Polni tekst Polni tekst Polni tekst

Genetic spectrum of Charcot–Marie–Tooth disease associated with myelin protein zero gene variants in Japan od 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

Polni tekst Polni tekst Polni tekst

Novel de novo POLR3B mutations responsible for demyelinating Charcot–Marie–Tooth disease in Japan od 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

Polni tekst Polni tekst Polni tekst

Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible od 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

Polni tekst Polni tekst Polni tekst

Novel heterozygous variants of SLC12A6 in Japanese families with Charcot–Marie–Tooth disease od 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

Polni tekst Polni tekst Polni tekst

Clinical and genetic features of Charcot‐Marie‐Tooth disease 2F and hereditary motor neuropathy 2B in Japan od 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

Polni tekst Polni tekst Polni tekst

Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes od 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

Polni tekst Polni tekst Polni tekst

The updated retrospective questionnaire study of sporadic inclusion body myositis in Japan od 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

Polni tekst Polni tekst Polni tekst

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy od 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

Polni tekst Polni tekst Polni tekst

New type of encephalomyelitis responsive to trimethoprim/sulfamethoxazole treatment in Japan od 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

Polni tekst Polni tekst Polni tekst

Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2 od 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

Polni tekst Polni tekst Polni tekst

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease od 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

Polni tekst Polni tekst Polni tekst