日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy.

将 LRP12 CGG 重复序列扩增与遗传性周围神经病联系起来

Hobara Takahiro, Ando Masahiro, Higuchi Yujiro, Yuan Jun-Hui, Yoshimura Akiko, Kojima Fumikazu, Noguchi Yutaka, Takei Jun, Hiramatsu Yu, Nozuma Satoshi, Nakamura Tomonori, Adachi Tadashi, Toyooka Keiko, Yamashita Toru, Sakiyama Yusuke, Hashiguchi Akihiro, Matsuura Eiji, Okamoto Yuji, Takashima Hiroshi

SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights

日本人群中SOD1相关遗传性周围神经病:遗传变异和临床见解

Ando, Masahiro; Higuchi, Yujiro; Yuan, Jun-Hui; Yoshimura, Akiko; Yano, Chikashi; Hobara, Takahiro; Kojima, Fumikazu; Hiramatsu, Yu; Nozuma, Satoshi; Nakamura, Tomonori; Sakiyama, Yusuke; Hashiguchi, Akihiro; Okamoto, Yuji; Matsushige, Takeshi; Mitsui, Jun; Tsuji, Shoji; Takashima, Hiroshi

Charcot-Marie-Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series

巨轴索性神经病中类似夏科-马里-图斯病的表现:日本大型病例系列研究中的临床变异性和患病率

Hobara, Takahiro; Ando, Masahiro; Higuchi, Yujiro; Yuan, Jun-Hui; Yoshimura, Akiko; Saito, Takashi; Shiihara, Takashi; Okuda, Shiho; Fukushima, Naoki; Awano, Hiroyuki; Inoue, Takahito; Yano, Chikashi; Kojima, Fumikazu; Kodama, Kento; Hiramatsu, Yu; Nozuma, Satoshi; Nakamura, Tomonori; Sakiyama, Yusuke; Hashiguchi, Akihiro; Mitsui, Jun; Tsuji, Shoji; Takashima, Hiroshi

Brain biopsy and metagenomic sequencing enhance aetiological diagnosis of encephalitis

脑活检和宏基因组测序有助于提高脑炎病因诊断的准确性。

Sakiyama, Yusuke; Yuan, Jun-Hui; Yoshimura, Akiko; Takeuchi, Mika; Maki, Yoshimitsu; Mori, Takuma; Takei, Jun; Ando, Masahiro; Hiramatsu, Yu; Nozuma, Satoshi; Higuchi, Yujiro; Yonezawa, Hajime; Kirishima, Mari; Suzuki, Masayuki; Kano, Takahiro; Tarisawa, Monami; Hashiguchi, Shunta; Kunii, Misako; Sato, Shoki; Takahashi-Iwata, Ikuko; Hashiguchi, Akihiro; Matsuura, Eiji; Izumo, Shuji; Tanimoto, Akihide; Takashima, Hiroshi

Enhancing the effects of nusinersen with cybernic treatment using Hybrid Assistive Limb (HAL) in spinal muscular atrophy: a real-world case series and exploratory cohort analysis

在脊髓性肌萎缩症中,使用混合辅助肢体(HAL)增强诺西那生治疗的效果:一项真实世界病例系列和探索性队列分析

Nakajima, Takashi; Saito, Toshio; Hashiguchi, Akihiro; Nakabayashi, Taiki; Kodera, Kazuki; Utsumi, Kota; Kanayama, Takeshi; Urabe, Haruka; Kinoshita, Satoru

Tibial to ulnar nerve amplitude ratio as a marker of length-dependent neuropathy

胫神经与尺神经振幅比值作为长度依赖性神经病变的标志物

Yano, Chikashi; Nakamura, Tomonori; Ando, Masahiro; Higuchi, Yujiro; Yuan, Jun-Hui; Yoshimura, Akiko; Hobara, Takahiro; Kojima, Fumikazu; Hiramatsu, Yu; Nozuma, Satoshi; Sakiyama, Yusuke; Hashiguchi, Akihiro; Rosales, Raymond L; Arimura, Kimiyoshi; Takashima, Hiroshi

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum

COA7相关疾病中的肌张力障碍和帕金森综合征:表型谱的扩展

Higuchi, Yujiro; Ando, Masahiro; Kojima, Fumikazu; Yuan, Junhui; Hashiguchi, Akihiro; Yoshimura, Akiko; Hiramatsu, Yu; Nozuma, Satoshi; Fukumura, Shinobu; Yahikozawa, Hiroyuki; Abe, Erika; Toyoshima, Itaru; Sugawara, Masashiro; Okamoto, Yuji; Matsuura, Eiji; Takashima, Hiroshi

Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation

伴有新型GJB1突变的X连锁夏科-马里-图斯病中枢神经系统病变的空间波动

Yoshimoto, Yukiyo; Yoshimoto, Shoko; Kakiuchi, Kensuke; Miyagawa, Rumina; Ota, Shin; Hosokawa, Takafumi; Ishida, Shimon; Higuchi, Yujiro; Hashiguchi, Akihiro; Takashima, Hiroshi; Arawaka, Shigeki

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

左旋精氨酸治疗HTLV-1相关神经系统疾病患者的疗效

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

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

日本对119例疑似周期性麻痹症患者进行基因组分析

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