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收藏分享 收藏 分享 收藏 分享 收藏 A case of adrenomyeloneuropathy with recurrent Mollaret's meningitis due to herpes simplex virus type 21例因单纯疱疹病毒2型引起的、合并复发性Mollaret脑膜炎的肾上腺脊髓神经病病例
Nakamura, Yumiko; Kakumoto, Toshiyuki; Yoshimoto, Munehiro; Ota, Yusuke; Suzuki, Anna; Komori, Yuta; Matsukawa, Takashi; Mitsui, Jun; Tsuji, Shoji; Toda, Tatsushi 分享 收藏 Vanishing White Matter Disease With EIF2B2 c.254T>A Variant: Mild Clinical and MRI Findings (vol 11, e200293, 2025)范ishing white matter disease with EIF2B2 c.254T>A variant: 轻度临床和MRI表现 (vol 11, e200293, 2025)Kakumoto, Toshiyuki; Matsukawa, Takashi; Tokimura, Ryo; Tsuboyama, Yoko; Hayashi, Yasufumi; Mitsutake, Akihiko; Iwata, Atsushi; Maeda, Meiko Hashimoto; Shimizu, Jun; Gonoi, Wataru; Ishiura, Hiroyuki; Mitsui, Jun; Tsuji, Shoji; Toda, Tatsushi 分享 收藏 Novel in-frame duplication variant of SOD1 in a Japanese family with familial amyotrophic lateral sclerosis一个日本家族性肌萎缩侧索硬化症中SOD1基因的新型框内重复变异Nakajima, Masanori; Naruse, Hiroya; Riku, Yuichi; Ueda, Kunihiro; Matsukawa, Takashi; Mitsui, Jun; Nakamura, Yoshitsugu; Ishida, Shimon; Yamada, Takashi; Moro, Naoki; Kotsuki, Naoki; Nagai, Kentaro; Tokushige, Shin-ichi; Uchibori, Ayumi; Oishi, Chizuko; Yabata, Hiroyuki; Urushitani, Makoto; Iwasaki, Yasushi; Ishiura, Hiroyuki; Toda, Tatsushi; Tsuji, Shoji; Ichikawa, Yaeko 分享 收藏 A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant一种新型的转录滑动机制可拯救杜氏肌营养不良症框移变异的肌营养不良蛋白表达Naruse, Hiroya; Mitsui, Jun; Kubota, Akatsuki; Okubo, So; Mitsuchi, Shuichiro; Sumi, Kensho; Tanifuji, Shuichi; Komaki, Shogo; Kitamura, Asuka; Maeda, Meiko; Yashita, Daiki; Sudo, Atsushi; Matsukawa, Takashi; Hamada, Masashi; Satake, Wataru; Tsuji, Shoji; Toda, Tatsushi 分享 收藏 CRPPA exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathyCRPPA外显子6-9缺失作为中国肌糖蛋白病患者的始祖突变。Luo, Jihang; Liu, Yidan; Song, Danyu; Yang, Shiqi; Fu, Xiaona; Ge, Lin; Wei, Cuijie; Cui, Liya; Fan, Yanbin; Luo, Huaxia; He, Yanwei; Xu, Jin; Shen, Qiang; Guo, Yuxuan; Kanagawa, Motoi; Toda, Tatsushi; Wang, Jingmin; Zhang, Hong; Xiong, Hui 分享 收藏 Vanishing White Matter Disease With EIF2B2 c.254 >A Variant Mild Clinical and MRI FindingsKakumoto, Toshiyuki; Matsukawa, Takashi; Tokimura, Ryo; Tsuboyama, Yoko; Hayashi, Yasufumi; Mitsutake, Akihiko; Iwata, Atsushi; Maeda, Meiko Hashimoto; Shimizu, Jun; Gonoi, Wataru; Ishiura, Hiroyuki; Mitsui, Jun; Tsuji, Shoji; Toda, Tatsushi 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathyOrimo, Kenta; Matsukawa, Takashi; Mitsutake, Akihiko; Cho, Takusei; Naruse, Hiroya; Sakiyama, Yoshio; Sumi, Kensho; Uchio, Naohiro; Satake, Akane; Takiyama, Yoshihisa; Matsushita, Takuya; Omae, Yosuke; Kawai, Yosuke; Tokunaga, Katsushi; Mitsui, Jun; Ishiura, Hiroyuki; Tsuji, Shoji; Toda, Tatsushi 分享 收藏 Widespread distribution of α-synuclein oligomers in LRRK2-related Parkinson's diseaseα-突触核蛋白寡聚物在LRRK2相关帕金森病中的广泛分布Sekiya, H; Franke, L; Hashimoto, Y; Takata, M; Nishida, K; Futamura, N; Hasegawa, K; Kowa, H; Ross, OA; McLean, PJ; Toda, T; Wszolek, ZK; Dickson, DW 分享 收藏 Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration血清自体促进因子水平升高及PLA2G6相关性神经退行性疾病患者出现多系统萎缩样表现Okubo, So; Matsukawa, Takashi; Kawamoto, Norifumi; Tsujita, Masahiko; Orimo, Kenta; Naruse, Hiroya; Mitsui, Jun; Hamada, Masashi; Satake, Wataru; Toda, Tatsushi 分享 收藏 Regulation of MCCC1 expression by a Parkinson's disease-associated intronic variant: implications for pathogenesis帕金森病相关内含子变异对MCCC1表达的调控：对发病机制的启示Sogabe, Shunsaku; Nakano, Hiroko; Ogasahara, Yusuke; Cha, Pei-Chieng; Ando, Yuko; Taniguchi-Ikeda, Mariko; Matsumoto, Ryusaku; Kanagawa, Motoi; Kobayashi, Kazuhiro; Murayama, Shigeo; Aoi, Takashi; Toda, Tatsushi; Satake, Wataru 分享 收藏 Clinicopathological features of anti-HMGCR and anti-SRP myopathies that do not satisfy the EULAR/ACR criteria of inflammatory myopathies抗HMGCR和抗SRP肌病的临床病理特征，这些肌病不符合EULAR/ACR炎症性肌病诊断标准Komaki, Shogo; Kubota, Akatsuki; Kitamura, Asuka; Maeda, Meiko; Kadoya, Masato; Hokkoku, Keiichi; Kobayashi, Shunsuke; Bannai, Taro; Shiio, Yasushi; Uchio, Naohiro; Uesaka, Yoshikazu; Kikuchi, Junko; Sugimoto, Izumi; Mikata, Takashi; Okudera, Rena; Suzuki, Kazushi; Arai, Noritoshi; Sakiyama, Yoshio; Tokushige, Shin-ichi; Ichikawa, Yaeko; Yajima, Nobuyuki; Nakashima, Ran; Mimori, Tsuneyo; Shimizu, Jun; Komai, Toshihiko; Tsuchiya, Haruka; Fujio, Keishi; Toda, Tatsushi 分享 收藏 Distinct cerebral perfusion patterns and linguistic profiles in Alzheimer's disease-related primary progressive aphasia阿尔茨海默病相关的原发性进行性失语症中不同的脑灌注模式和语言特征Katsuse, Kazuto; Kakinuma, Kazuo; Kawakami, Nobuko; Ota, Shoko; Ogawa, Nanayo; Kawamura, Ai; Iseki, Chifumi; Hamada, Masashi; Toda, Tatsushi; Matsuda, Minoru; Suzuki, Kyoko 分享 收藏 
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