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Page 1
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.
Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.
Nakahara Y, Mitsui J, Date H, Porto KJ, Hayashi Y, Yamashita A, Kusakabe Y, Matsukawa T, Ishiura H, Yasuda T, Iwata A, Goto J, Ichikawa Y, Momose Y, Takahashi Y, Toda T, Ohta R, Yoshimura J, Morishita S, Gustavsson EK, Christy D, Maczis M, Farrer MJ, Kim HJ, Park SS, Jeon B, Zhang J, Gu W, Scholz SW, Singleton AB, Houlden H, Yabe I, Sasaki H, Matsushima M, Takashima H, Kikuchi A, Aoki M, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Watanabe H, Ito M, Sobue G, Ishikawa K, Mizusawa H, Kanai K, Kuwabara S, Arai K, Koyano S, Kuroiwa Y, Hasegawa K, Yuasa T, Yasui K, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Kusunoki S, Osaki Y, Horiuchi M, Yamamoto K, Shimada M, Miyagawa T, Kawai Y, Nishida N, Tokunaga K, Dürr A, Brice A, Filla A, Klockgether T, Wüllner U, Tanner CM, Kukull WA, Lee VM, Masliah E, Low PA, Sandroni P, Ozelius L, Foroud T, Tsuji S. Nakahara Y, et al. Among authors: porto kj. medRxiv [Preprint]. 2023 May 2:2023.05.02.23289328. doi: 10.1101/2023.05.02.23289328. medRxiv. 2023. PMID: 37425910 Free PMC article. Preprint.
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.
Clinical Impact of Copy Number Variation on the Genetic Diagnosis of Syndromic Aortopathies.
Takeda N, Inuzuka R, Yagi H, Morita H, Ando M, Yamauchi H, Taniguchi Y, Porto KJ, Kanaya T, Ishiura H, Mitsui J, Tsuji S, Toda T, Ono M, Komuro I. Takeda N, et al. Among authors: porto kj. Circ Genom Precis Med. 2021 Aug;14(4):e003458. doi: 10.1161/CIRCGEN.121.003458. Epub 2021 Jul 30. Circ Genom Precis Med. 2021. PMID: 34325513 No abstract available.
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.
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.