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

An Anti-NH(2) Terminal of α-enolase Antibody-positive Hashimoto's Encephalopathy with Bilateral Basal Ganglia Lesions: A Case Report and Literature Review

一例抗α-烯醇化酶NH(2)末端抗体阳性的桥本脑病伴双侧基底节病变:病例报告及文献复习

Matsuda, Yu; Kainaga, Mitsuhiro; Maeda, Mizue; Kitao, Hideki; Tokushige, Shinichi; Uchibori, Ayumi; Oishi, Chizuko; Ichikawa, Yaeko

Clinicopathological features of anti-HMGCR and anti-SRP myopathies that do not satisfy the EULAR/ACR criteria of inflammatory myopathies

不符合EULAR/ACR炎症性肌病诊断标准的抗HMGCR和抗SRP肌病的临床病理特征

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

Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy

全基因组关联研究发现PLA2G4C基因中存在一个新的多系统萎缩症易感基因位点

Nakahara, Yasuo; Mitsui, Jun; Date, Hidetoshi; Porto, Kristine Joyce; Hayashi, Yasuhiro; Yamashita, Atsushi; Kusakabe, Yoshio; Matsukawa, Takashi; Ishiura, Hiroyuki; Yasuda, Tsutomu; Iwata, Atsushi; Goto, Jun; Ichikawa, Yaeko; Momose, Yoshio; Takahashi, Yuji; Toda, Tatsushi; Ohta, Rikifumi; Yoshimura, Jun; Morishita, Shinichi; Gustavsson, Emil K; Christy, Darren; Maczis, Melissa; Farrer, Matthew J; Kim, Han-Joon; Park, Sung-Sup; Jeon, Beomseok; Zhang, Jin; Gu, Weihong; Scholz, Sonja W; Singleton, Andrew B; Houlden, Henry; Yabe, Ichiro; Sasaki, Hidenao; Matsushima, Masaaki; Takashima, Hiroshi; Kikuchi, Akio; Aoki, Masashi; Hara, Kenju; Kakita, Akiyoshi; Yamada, Mitsunori; Takahashi, Hitoshi; Onodera, Osamu; Nishizawa, Masatoyo; Watanabe, Hirohisa; Ito, Mizuki; Sobue, Gen; Ishikawa, Kinya; Mizusawa, Hidehiro; Kanai, Kazuaki; Kuwabara, Satoshi; Arai, Kimihito; Koyano, Shigeru; Kuroiwa, Yoshiyuki; Hasegawa, Kazuko; Yuasa, Tatsuhiko; Yasui, Kenichi; Nakashima, Kenji; Ito, Hijiri; Izumi, Yuishin; Kaji, Ryuji; Kato, Takeo; Kusunoki, Susumu; Osaki, Yasushi; Horiuchi, Masahiro; Yamamoto, Ken; Shimada, Mihoko; Miyagawa, Taku; Kawai, Yosuke; Nishida, Nao; Tokunaga, Katsushi; Dürr, Alexandra; Brice, Alexis; Filla, Alessandro; Klockgether, Thomas; Wüllner, Ullrich; Tanner, Caroline M; Kukull, Walter A; Lee, Virginia M-Y; Masliah, Eliezer; Low, Phillip A; Sandroni, Paola; Ozelius, Laurie; Foroud, Tatiana; Tsuji, Shoji

Time Distortion in Parkinsonism

帕金森病的时间扭曲

Terao, Yasuo; Honma, Motoyasu; Asahara, Yuki; Tokushige, Shin-Ichi; Furubayashi, Toshiaki; Miyazaki, Tai; Inomata-Terada, Satomi; Uchibori, Ayumi; Miyagawa, Shinji; Ichikawa, Yaeko; Chiba, Atsuro; Ugawa, Yoshikazu; Suzuki, Masahiko

Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism

一名患有特发性基底节钙化-1 (IBGC1) 并伴有多巴反应性帕金森综合征的日本患者中发现一种新的 SLC20A2 变异。

Ichikawa, Yaeko; Tanaka, Masaki; Kurita, Eriko; Nakajima, Masanori; Tanaka, Masaki; Oishi, Chizuko; Goto, Jun; Tsuji, Shoji; Chiba, Atsuro

Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia

一名患有弗里德赖希共济失调的尼泊尔患者表现出明显的下肢痉挛和反射亢进。

Naruse, Hiroya; Takahashi, Yuji; Ishiura, Hiroyuki; Matsukawa, Takashi; Mitsui, Jun; Ichikawa, Yaeko; Hamada, Masashi; Shimizu, Jun; Goto, Jun; Toda, Tatsushi; Tsuji, Shoji

CV2/CRMP5-antibody-related Paraneoplastic Optic Neuropathy Associated with Small-cell Lung Cancer

CV2/CRMP5抗体相关副肿瘤性视神经病变与小细胞肺癌相关

Nakajima, Masanori; Uchibori, Ayumi; Ogawa, Yuki; Miyazaki, Tai; Ichikawa, Yaeko; Kaneko, Kimihiko; Takahashi, Toshiyuki; Nakashima, Ichiro; Shiraishi, Hirokazu; Motomura, Masakatsu; Chiba, Atsuro

Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum

由朊病毒蛋白Pro105Leu突变引起的非典型帕金森综合征:广泛的临床表现

Mano, Kagari Koshi; Matsukawa, Takashi; Mitsui, Jun; Ishiura, Hiroyuki; Tokushige, Shin-Ichi; Takahashi, Yuji; Sato, Naoko Saito; Nakamoto, Fumiko Kusunoki; Ichikawa, Yaeko; Nagashima, Yu; Terao, Yasuo; Shimizu, Jun; Hamada, Masashi; Uesaka, Yoshikazu; Oyama, Genko; Ogawa, Go; Yoshimura, Jun; Doi, Koichiro; Morishita, Shinichi; Tsuji, Shoji; Goto, Jun

Variants associated with Gaucher disease in multiple system atrophy

多系统萎缩中与戈谢病相关的变异

Mitsui, Jun; Matsukawa, Takashi; Sasaki, Hidenao; Yabe, Ichiro; Matsushima, Masaaki; Dürr, Alexandra; Brice, Alexis; Takashima, Hiroshi; Kikuchi, Akio; Aoki, Masashi; Ishiura, Hiroyuki; Yasuda, Tsutomu; Date, Hidetoshi; Ahsan, Budrul; Iwata, Atsushi; Goto, Jun; Ichikawa, Yaeko; Nakahara, Yasuo; Momose, Yoshio; Takahashi, Yuji; Hara, Kenju; Kakita, Akiyoshi; Yamada, Mitsunori; Takahashi, Hitoshi; Onodera, Osamu; Nishizawa, Masatoyo; Watanabe, Hirohisa; Ito, Mizuki; Sobue, Gen; Ishikawa, Kinya; Mizusawa, Hidehiro; Kanai, Kazuaki; Hattori, Takamichi; Kuwabara, Satoshi; Arai, Kimihito; Koyano, Shigeru; Kuroiwa, Yoshiyuki; Hasegawa, Kazuko; Yuasa, Tatsuhiko; Yasui, Kenichi; Nakashima, Kenji; Ito, Hijiri; Izumi, Yuishin; Kaji, Ryuji; Kato, Takeo; Kusunoki, Susumu; Osaki, Yasushi; Horiuchi, Masahiro; Kondo, Tomoyoshi; Murayama, Shigeo; Hattori, Nobutaka; Yamamoto, Mitsutoshi; Murata, Miho; Satake, Wataru; Toda, Tatsushi; Filla, Alessandro; Klockgether, Thomas; Wüllner, Ullrich; Nicholson, Garth; Gilman, Sid; Tanner, Caroline M; Kukull, Walter A; Stern, Mathew B; Lee, Virginia M-Y; Trojanowski, John Q; Masliah, Eliezer; Low, Phillip A; Sandroni, Paola; Ozelius, Laurie J; Foroud, Tatiana; Tsuji, Shoji

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

不同基因中的CAG重复序列对脊髓小脑性共济失调发病年龄的调节

Tezenas du Montcel, Sophie; Durr, Alexandra; Bauer, Peter; Figueroa, Karla P; Ichikawa, Yaeko; Brussino, Alessandro; Forlani, Sylvie; Rakowicz, Maria; Schöls, Ludger; Mariotti, Caterina; van de Warrenburg, Bart P C; Orsi, Laura; Giunti, Paola; Filla, Alessandro; Szymanski, Sandra; Klockgether, Thomas; Berciano, José; Pandolfo, Massimo; Boesch, Sylvia; Melegh, Bela; Timmann, Dagmar; Mandich, Paola; Camuzat, Agnès; Goto, Jun; Ashizawa, Tetsuo; Cazeneuve, Cécile; Tsuji, Shoji; Pulst, Stefan-M; Brusco, Alfredo; Riess, Olaf; Brice, Alexis; Stevanin, Giovanni