A family with nonsynonymous mutations of filamin C actin-binding domain
平山 幹生, 今井 和憲, 山下 史匡, 犬飼 晃
Mikio Hirayama, Kazunori Imai, Fumitada Yamasita, Akira Inukai
2025/10/24
Geographic Distribution of Patients with CADASIL in Japan
向井 麻央, 水田 依久子, 尾原 知行, 渡邉 明子, 小泉 崇, 松浦 啓, 福永 大幹, 水野 敏樹
Mao Mukai, Ikuko Mizuta, Tomoyuki Ohara, Akiko Watanabe-Hosomi, Takashi Koizumi, Hiraku Matsuura, Daiki Fukunaga, Toshiki Mizuno
2025/10/24
Adult-onset consciousness disturbance caused by ventriculoperitoneal shunt separation: utility of chest and abdominal X-rays in diagnosis
北見 真喜子, 三笠 道太, 石元 玲央, 干川 芳弘, 平澤 基之
Makiko Kitami, Michitaka Mikasa, Reo Ishimoto, Yoshihiro Hoshikawa, Motoyuki Hirasawa
2025/10/18
A case of neuronal intranuclear inclusion disease diagnosed 19 years after onset through clinical re-evaluation
永石 彰子, 山本 絢, 林 信孝, 松尾 秀徳, 曽根 淳, 福留 隆泰
Akiko Nagaishi, Ken Yamamoto, Nobutaka Hayashi, Hidenori Matsuo, Jun Sone, Takayasu Fukudome
2025/10/18
Falls related to faciobrachio-crural dystonic seizures in a case of leucine-rich glioma-inactivated 1 antibody-positive encephalitis
大内 東香, 中島 沙月, 平井 英祐, 菊池 貴彦
Haruka Ouchi, Satsuki Nakajima, Eisuke Hirai, Takahiko Kikuchi
2025/10/18
A case of tetanus after surgery for strangulated bowel obstruction
柳田 錬, 鈴木 千恵子, 吉田 広樹, 三上 洋平, 西嶌 春生, 冨山 誠彦
Ren Yanagida, Chieko Suzuki, Hiroki Yoshida, Yohei Mikami, Haruo Nishijima, Masahiko Tomiyama
2025/10/18
A case of adult-onset Krabbe disease diagnosed by galactocerebrosidase gene mutations, presenting with an atypical phenotype
本河 悠太, 桑垣 詩織, 林田 仁志, 樋口 雄二郎, 髙嶋 博, 池添 浩二
Yuta Honkawa, Shiori Kuwagaki, Hitoshi Hayashida, Yujiro Higuchi, Hiroshi Takashima, Koji Ikezoe
2025/10/18
A case of spinal and bulbar muscular atrophy with acute bilateral vocal cord paralysis suddenly apparent after infection
柴田 一馬, 小関 昭仁, 鈴木 洋司, 森下 直樹, 吉見 亘弘, 酒井 直樹
Kazuma Shibata, Akihito Koseki, Youji Suzuki, Naoki Morishita, Nobuhiro Yoshimi, Naoki Sakai
2025/09/27
Pathomechanisms of frontotemporal lobar degeneration: from view of clinical neuropathology
陸 雄一 , 小林 良太
Yuichi Riku, Ryota Kobayashi
2025/09/27
iPS cell-based therapy for muscular disorders
櫻井 英俊
Hidetoshi Sakurai
2025/09/26