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SaveShare Save A case of adrenomyeloneuropathy with recurrent Mollaret's meningitis due to herpes simplex virus type 2
Nakamura, Yumiko; Kakumoto, Toshiyuki; Yoshimoto, Munehiro; Ota, Yusuke; Suzuki, Anna; Komori, Yuta; Matsukawa, Takashi; Mitsui, Jun; Tsuji, Shoji; Toda, Tatsushi Share Save Vanishing White Matter Disease With EIF2B2 c.254T>A Variant: Mild Clinical and MRI Findings (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 Share Save Novel in-frame duplication variant of SOD1 in a Japanese family with familial amyotrophic lateral sclerosisNakajima, 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 Share Save A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift VariantNaruse, 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 Share Save CRPPA exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathyLuo, 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 Share Save 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 Share Save Share Save Share Save Share Save Share Save 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 Share Save Widespread distribution of α-synuclein oligomers in LRRK2-related Parkinson's diseaseSekiya, 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 Share Save Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegenerationOkubo, So; Matsukawa, Takashi; Kawamoto, Norifumi; Tsujita, Masahiko; Orimo, Kenta; Naruse, Hiroya; Mitsui, Jun; Hamada, Masashi; Satake, Wataru; Toda, Tatsushi Share Save Regulation of MCCC1 expression by a Parkinson's disease-associated intronic variant: implications for pathogenesisSogabe, 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 Share Save Clinicopathological features of anti-HMGCR and anti-SRP myopathies that do not satisfy the EULAR/ACR criteria of inflammatory myopathiesKomaki, 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 Share Save Distinct cerebral perfusion patterns and linguistic profiles in Alzheimer's disease-related primary progressive aphasiaKatsuse, Kazuto; Kakinuma, Kazuo; Kawakami, Nobuko; Ota, Shoko; Ogawa, Nanayo; Kawamura, Ai; Iseki, Chifumi; Hamada, Masashi; Toda, Tatsushi; Matsuda, Minoru; Suzuki, Kyoko Share Save Share Save Share Save 
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