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Multiple system atrophy variant with severe hippocampal pathology.
Brain Pathol. 2022 Jan;32(1):e13002. doi: 10.1111/bpa.13002. Epub 2021 Jul 13.
Brain Pathol. 2022.
PMID: 34255887
Free PMC article.
Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson's Disease.
Matsukawa T, Porto KJL, Mitsui J, Chikada A, Ishiura H, Takahashi Y, Nakamoto FK, Seki T, Shiio Y, Toda T, Tsuji S.
Matsukawa T, et al. Among authors: porto kjl.
Cerebellum. 2024 Feb;23(1):22-30. doi: 10.1007/s12311-022-01426-z. Epub 2022 Sep 13.
Cerebellum. 2024.
PMID: 36097244
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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.
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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.
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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.
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DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism.
Kubota A, Ishiura H, Porto KJL, Tanaka M, Mitsui J, Unuma A, Maki H, Komuro I, Tsuji S, Shimizu J, Toda T.
Kubota A, et al. Among authors: porto kjl.
Neuromuscul Disord. 2022 Mar;32(3):263-269. doi: 10.1016/j.nmd.2021.12.004. Epub 2021 Dec 17.
Neuromuscul Disord. 2022.
PMID: 35093299
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