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

Arginine ameliorates motor and survival deficits in MFN2-Deficient Drosophila models

精氨酸可改善MFN2缺陷果蝇模型中的运动和生存缺陷

Ando, Masahiro; Okamoto, Yuji; Higuchi, Yujiro; Yuan, Jun-Hui; Yoshimura, Akiko; Yano, Chikashi; Nagatomo, Risa; Hobara, Takahiro; Kojima, Fumikazu; Hiramatsu, Yu; Nozuma, Satoshi; Sakiyama, Yusuke; Takashima, Hiroshi

INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

日本人群中INF2相关夏科-马里-图斯病:遗传学和临床见解

Yano, Chikashi; Ando, Masahiro; Higuchi, Yujiro; Yuan, Jun-Hui; Yoshimura, Akiko; Hobara, Takahiro; Nagatomo, Risa; Kojima, Fumikazu; Hiramatsu, Yu; Nozuma, Satoshi; Nakamura, Tomonori; Sakiyama, Yusuke; Matsuoka, Chika; Yamashita, Toru; Kimura, Takashi; Miyazaki, Ayako; Kinjo, Chinatsu; Yokochi, Kenji; Yamanaka, Nanami; Matsuda, Nozomu; Suichi, Tomoki; Hanaoka, Yoshiyuki; Kojima, Haruka; Todo, Kenichi; Ishiura, Hiroyuki; Mitsui, Jun; Tsuji, Shoji; Takashima, Hiroshi

Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

对176例日本MFN2相关CMT患者的全国性特征分析:临床和遗传学见解

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

Isolated Paramedian Pontine Reticular Formation (PPRF) syndrome in AQP4 antibody-positive neuromyelitis optica spectrum disorder: a case report

AQP4抗体阳性视神经脊髓炎谱系障碍合并孤立性桥旁正中网状结构(PPRF)综合征:病例报告

Terahara, Manami; Hobara, Takahiro; Higuchi, Yujiro; Hirakata, Shota; Noguchi, Yutaka; Nozuma, Satoshi; Takashima, Hiroshi

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

Frameshift and Copy Number Variants in SACS-Related Neuropathy

SACS相关神经病变中的移码和拷贝数变异

Yuan, Jun-Hui; Higuchi, Yujiro; Ando, Masahiro; Hiramatsu, Yu; Yoshimura, Akiko; Hobara, Takahiro; Kojima, Fumikazu; Nakamura, Tomonori; Sakiyama, Yusuke; Nozuma, Satoshi; Ohyama, Satoshi; Mitsui, Jun; Tsuji, Shoji; Takashima, Hiroshi

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

Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications

原发性家族性脑钙化患者尸检的遗传和病理生理学见解:新型 MYORG 变异和星形胶质细胞影响

Takahiro Hobara, Yujiro Higuchi, Mari Yoshida, Masahito Suehara, Masahiro Ando, Jun-Hui Yuan, Akiko Yoshimura, Fumikazu Kojima, Eiji Matsuura, Yuji Okamoto, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima