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Multiple system atrophy variant with severe hippocampal pathology.
Ando T, Riku Y, Akagi A, Miyahara H, Hirano M, Ikeda T, Yabata H, Koizumi R, Oba C, Morozumi S, Yasui K, Goto A, Katayama T, Sakakibara S, Aiba I, Sakai M, Konagaya M, Mori K, Ito Y, Yuasa H, Nomura M, Porto KJL, Mitsui J, Tsuji S, Mimuro M, Hashizume Y, Katsuno M, Iwasaki Y, Yoshida M. Ando T, et al. Among authors: porto kjl. Brain Pathol. 2022 Jan;32(1):e13002. doi: 10.1111/bpa.13002. Epub 2021 Jul 13. Brain Pathol. 2022. PMID: 34255887 Free PMC article.
High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial.
Mitsui J, Matsukawa T, Uemura Y, Kawahara T, Chikada A, Porto KJL, Naruse H, Tanaka M, Ishiura H, Toda T, Kuzuyama H, Hirano M, Wada I, Ga T, Moritoyo T, Takahashi Y, Mizusawa H, Ishikawa K, Yokota T, Kuwabara S, Sawamoto N, Takahashi R, Abe K, Ishihara T, Onodera O, Matsuse D, Yamasaki R, Kira JI, Katsuno M, Hanajima R, Ogata K, Takashima H, Matsushima M, Yabe I, Sasaki H, Tsuji S. Mitsui J, et al. Among authors: porto kjl. EClinicalMedicine. 2023 Apr 14;59:101920. doi: 10.1016/j.eclinm.2023.101920. eCollection 2023 May. EClinicalMedicine. 2023. PMID: 37256098 Free PMC article.
Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease.
Yamaguchi-Takegami N, Takahashi A, Mitsui J, Sugiyama Y, Chikada A, Porto KJL, Takegami N, Sakuishi K, Ishiura H, Yamada K, Shimizu J, Tsuji S, Toda T. Yamaguchi-Takegami N, et al. Among authors: porto kjl. Intern Med. 2024 Mar 15;63(6):861-865. doi: 10.2169/internalmedicine.1699-23. Epub 2023 Aug 9. Intern Med. 2024. PMID: 37558486 Free PMC article.
A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis.
Mitsutake A, Matsukawa T, Porto KJL, Sato T, Katsumata J, Seki T, Maekawa R, Hideyama T, Tanaka M, Ishiura H, Toda T, Tsuji S, Shiio Y. Mitsutake A, et al. Among authors: porto kjl. J Neurol Sci. 2020 Nov 15;418:117091. doi: 10.1016/j.jns.2020.117091. Epub 2020 Aug 11. J Neurol Sci. 2020. PMID: 32798841 No abstract available.