Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects

por Nozaki, Ichiro, Hashiguchi, Akihiro, Takashima, Hiroshi, Yamashita, Yoko, Higashide, Tomomi, Iwasa, Kazuo, Ono, Kenjiro
Publicado 2023

A Novel PRPS1 Mutation in a Japanese Patient with CMTX5

por Shirakawa, Shunichi, Murakami, Tatsufumi, Hashiguchi, Akihiro, Takashima, Hiroshi, Hasegawa, Hiroshi, Ichida, Kimiyoshi, Sunada, Yoshihide
Publicado 2021

Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented ga...

por Ishikawa, Ruoyi, Nakamori, Masahiro, Takenaka, Megumi, Aoki, Shiro, Yamazaki, Yu, Hashiguchi, Akihiro, Takashima, Hiroshi, Maruyama, Hirofumi
Publicado 2023

Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening

por Aoki, Sho, Nagashima, Kazuaki, Shibata, Makoto, Kasahara, Hiroo, Fujita, Yukio, Hashiguchi, Akihiro, Takashima, Hiroshi, Ikeda, Yoshio
Publicado 2021

HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report

por Matsuura, Eiji, Nozuma, Satoshi, Shigehisa, Ayano, Dozono, Mika, Nakamura, Tomonori, Tanaka, Masakazu, Kubota, Ryuji, Hashiguchi, Akihiro, Takashima, Hiroshi
Publicado 2023

Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan

por Yoshimura, Akiko, Yuan, Jun-Hui, Hashiguchi, Akihiro, Ando, Masahiro, Higuchi, Yujiro, Nakamura, Tomonori, Okamoto, Yuji, Nakagawa, Masanori, Takashima, Hiroshi
Publicado 2019

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan

por Yuan, Jun-Hui, Higuchi, Yujiro, Hashiguchi, Akihiro, Ando, Masahiro, Yoshimura, Akiko, Nakamura, Tomonori, Hiramatsu, Yu, Sakiyama, Yusuke, Takashima, Hiroshi
Publicado 2023

Histopathologic differences between human T-lymphotropic virus type 1 (HTLV-1)-positive and HTLV-1-negative polymyositis

por Abdullah, Hazem M, Higuchi, Itsuro, Kubota, Ryuji, Matsuura, Eiji, Hashiguchi, Akihiro, Abdelbary, Nashwa H, Inamori, Yukie, Takashima, Hiroshi, Izumo, Shuji
Publicado 2011

An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness

por Kimura, Yasuyoshi, Nishikawa, Akira, Hashiguchi, Akihiro, Etoh, Masaki, Yoshimura, Akiko, Asai, Kanako, Miyashita, Noriko, Takashima, Hiroshi, Sumi, Hisae, Naka, Takashi
Publicado 2021

Peripheral neuropathy in a case with CADASIL: a case report

por Sakiyama, Yusuke, Matsuura, Eiji, Maki, Yoshimitsu, Yoshimura, Akiko, Ando, Masahiro, Nomura, Miwa, Shinohara, Kazuya, Saigo, Ryuji, Nakamura, Tomonori, Hashiguchi, Akihiro, Takashima, Hiroshi
Publicado 2018

Cryptococcus Meningitis Can Co-occur with Anti-NMDA Receptor Encephalitis

por Sakiyama, Yusuke, Matsuura, Eiji, Shigehisa, Ayano, Hamada, Yuki, Dozono, Mika, Nozuma, Satoshi, Nakamura, Tomonori, Higashi, Keiko, Hashiguchi, Akihiro, Takahashi, Yukitoshi, Takashima, Hiroshi
Publicado 2020

Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy

por Yuan, Jun-Hui, Higuchi, Yujiro, Ando, Masahiro, Matsuura, Eiji, Hashiguchi, Akihiro, Yoshimura, Akiko, Nakamura, Tomonori, Sakiyama, Yusuke, Mitsui, Jun, Ishiura, Hiroyuki, Tsuji, Shoji, Takashima, Hiroshi
Publicado 2022

Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan

por Higuchi, Yujiro, Ando, Masahiro, Yoshimura, Akiko, Hakotani, Satoshi, Koba, Yuki, Sakiyama, Yusuke, Hiramatsu, Yu, Tashiro, Yuichi, Maki, Yoshimitsu, Hashiguchi, Akihiro, Yuan, Junhui, Okamoto, Yuji, Matsuura, Eiji, Takashima, Hiroshi
Publicado 2021

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

por 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
Publicado 2019

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

por 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
Publicado 2017

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

por 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
Publicado 2020

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

por 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
Publicado 2022

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

por 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
Publicado 2022

Efficacy of l‐Arginine treatment in patients with HTLV‐1‐associated neurological disease

por Nozuma, Satoshi, Matsuura, Eiji, Tashiro, Yuichi, Nagata, Ryusei, Ando, Masahiro, Hiramatsu, Yu, Higuchi, Yujiro, Sakiyama, Yusuke, Hashiguchi, Akihiro, Michizono, Kumiko, Higashi, Keiko, Matsuzaki, Toshio, Kodama, Daisuke, Tanaka, Masakazu, Yamano, Yoshihisa, Moritoyo, Takashi, Kubota, Ryuji, Takashima, Hiroshi
Publicado 2022

Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan

por Ando, Masahiro, Higuchi, Yujiro, Yuan, Junhui H., Yoshimura, Akiko, Higashi, Shuntaro, Takeuchi, Mika, Hobara, Takahiro, Kojima, Fumikazu, Noguchi, Yutaka, Takei, Jun, Hiramatsu, Yu, Nozuma, Satoshi, Sakiyama, Yusuke, Hashiguchi, Akihiro, Matsuura, Eiji, Okamoto, Yuji, Nagai, Masahiro, Takashima, Hiroshi
Publicado 2022