Clinicopathological features of adult-onset neuronal intranuclear inclusion disease
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
Published in Brain (London, England : 1878) (01.12.2016)
Published in Brain (London, England : 1878) (01.12.2016)
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Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects
Nozaki, Ichiro, Hashiguchi, Akihiro, Takashima, Hiroshi, Yamashita, Yoko, Higashide, Tomomi, Iwasa, Kazuo, Ono, Kenjiro
Published in Internal Medicine (15.10.2023)
Published in Internal Medicine (15.10.2023)
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Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
Yuan, Jun-Hui, Higuchi, Yujiro, Hashiguchi, Akihiro, Ando, Masahiro, Yoshimura, Akiko, Nakamura, Tomonori, Sakiyama, Yusuke, Takashima, Hiroshi
Published in Journal of neurology (01.12.2022)
Published in Journal of neurology (01.12.2022)
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A Novel PRPS1 Mutation in a Japanese Patient with CMTX5
Shirakawa, Shunichi, Murakami, Tatsufumi, Hashiguchi, Akihiro, Takashima, Hiroshi, Hasegawa, Hiroshi, Ichida, Kimiyoshi, Sunada, Yoshihide
Published in Internal Medicine (01.06.2022)
Published in Internal Medicine (01.06.2022)
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Journal Article
An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness
Kimura, Yasuyoshi, Nishikawa, Akira, Hashiguchi, Akihiro, Etoh, Masaki, Yoshimura, Akiko, Asai, Kanako, Miyashita, Noriko, Takashima, Hiroshi, Sumi, Hisae, Naka, Takashi
Published in Internal Medicine (01.06.2022)
Published in Internal Medicine (01.06.2022)
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Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening
Aoki, Sho, Nagashima, Kazuaki, Shibata, Makoto, Kasahara, Hiroo, Fujita, Yukio, Hashiguchi, Akihiro, Takashima, Hiroshi, Ikeda, Yoshio
Published in Internal Medicine (15.12.2021)
Published in Internal Medicine (15.12.2021)
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(Pro)renin receptor accelerates development of sarcopenia via activation of Wnt/YAP signaling axis
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
Published in Aging cell (01.10.2019)
Published in Aging cell (01.10.2019)
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Journal Article
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2
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
Published in Annals of neurology (01.04.2016)
Published in Annals of neurology (01.04.2016)
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Journal Article
Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments
Taniguchi, Takaki, Ando, Masahiro, Okamoto, Yuji, Yoshimura, Akiko, Higuchi, Yujiro, Hashiguchi, Akihiro, Matsuda, Nozomu, Yamamoto, Mamoru, Dohi, Eisuke, Takahashi, Makoto, Yoshino, Masanao, Nomura, Taichi, Matsushima, Masaaki, Yabe, Ichiro, Sanpei, Yui, Ishiura, Hiroyuki, Mitsui, Jun, Nakagawa, Masanori, Tsuji, Shoji, Takashima, Hiroshi
Published in Journal of human genetics (01.06.2022)
Published in Journal of human genetics (01.06.2022)
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HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report
Matsuura, Eiji, Nozuma, Satoshi, Shigehisa, Ayano, Dozono, Mika, Nakamura, Tomonori, Tanaka, Masakazu, Kubota, Ryuji, Hashiguchi, Akihiro, Takashima, Hiroshi
Published in BMC musculoskeletal disorders (06.05.2023)
Published in BMC musculoskeletal disorders (06.05.2023)
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Journal Article
Cryptococcus Meningitis Can Co-occur with Anti-NMDA Receptor Encephalitis
Sakiyama, Yusuke, Matsuura, Eiji, Shigehisa, Ayano, Hamada, Yuki, Dozono, Mika, Nozuma, Satoshi, Nakamura, Tomonori, Higashi, Keiko, Hashiguchi, Akihiro, Takahashi, Yukitoshi, Takashima, Hiroshi
Published in Internal Medicine (15.09.2020)
Published in Internal Medicine (15.09.2020)
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Phenotypic and molecular diversities of spinocerebellar ataxia type 2 in Japan
Inada, Rino, Hirano, Makito, Oka, Nobuyuki, Samukawa, Makoto, Saigoh, Kazumasa, Suzuki, Hidekazu, Udaka, Fukashi, Hashiguchi, Akihiro, Takashima, Hiroshi, Hamada, Yukihiro, Nakamura, Yusaku, Kusunoki, Susumu
Published in Journal of neurology (01.08.2021)
Published in Journal of neurology (01.08.2021)
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Journal Article
Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation
Yoshimoto, Yukiyo, Yoshimoto, Shoko, Kakiuchi, Kensuke, Miyagawa, Rumina, Ota, Shin, Hosokawa, Takafumi, Ishida, Shimon, Higuchi, Yujiro, Hashiguchi, Akihiro, Takashima, Hiroshi, Arawaka, Shigeki
Published in Internal Medicine (15.02.2024)
Published in Internal Medicine (15.02.2024)
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Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient
Ishikawa, Ruoyi, Nakamori, Masahiro, Takenaka, Megumi, Aoki, Shiro, Yamazaki, Yu, Hashiguchi, Akihiro, Takashima, Hiroshi, Maruyama, Hirofumi
Published in Frontiers in neurology (13.06.2023)
Published in Frontiers in neurology (13.06.2023)
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Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes
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
Published in Journal of neurology (01.08.2022)
Published in Journal of neurology (01.08.2022)
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Journal Article
Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan
Yuan, Jun-Hui, Higuchi, Yujiro, Hashiguchi, Akihiro, Ando, Masahiro, Yoshimura, Akiko, Nakamura, Tomonori, Hiramatsu, Yu, Sakiyama, Yusuke, Takashima, Hiroshi
Published in Frontiers in neurology (26.01.2023)
Published in Frontiers in neurology (26.01.2023)
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Journal Article
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families
Ando, Masahiro, Higuchi, Yujiro, Okamoto, Yuji, Yuan, Junhui, Yoshimura, Akiko, Takei, Jun, Taniguchi, Takaki, Hiramatsu, Yu, Sakiyama, Yusuke, Hashiguchi, Akihiro, Matsuura, Eiji, Nakagawa, Hiroto, Sonoda, Ken, Yamashita, Toru, Tamura, Akiko, Terasawa, Hideo, Mitsui, Jun, Ishiura, Hiroyuki, Tsuji, Shoji, Takashima, Hiroshi
Published in Journal of human genetics (01.07.2022)
Published in Journal of human genetics (01.07.2022)
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Journal Article
A Family with Distal Hereditary Motor Neuropathy and a K141Q Mutation of Small Heat Shock Protein HSPB1
Maeda, Kengo, Idehara, Ryo, Hashiguchi, Akihiro, Takashima, Hiroshi
Published in Internal Medicine (01.01.2014)
Published in Internal Medicine (01.01.2014)
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