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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 2
2002 6
2003 9
2004 6
2005 1
2006 2
2007 4
2008 2
2009 14
2010 9
2011 7
2012 11
2013 7
2014 6
2015 6
2016 6
2017 9
2018 8
2019 14
2020 14
2021 11
2022 11
2023 15
2024 7

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166 results

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Page 1
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Ishiura H, et al. Among authors: matsukawa t. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332380
LONRF2 is a protein quality control ubiquitin ligase whose deficiency causes late-onset neurological deficits.
Li D, Johmura Y, Morimoto S, Doi M, Nakanishi K, Ozawa M, Tsunekawa Y, Inoue-Yamauchi A, Naruse H, Matsukawa T, Takeshita Y, Suzuki N, Aoki M, Nishiyama A, Zeng X, Konishi C, Suzuki N, Nishiyama A, Harris AS, Morita M, Yamaguchi K, Furukawa Y, Nakai K, Tsuji S, Yamazaki S, Yamanashi Y, Shimada S, Okada T, Okano H, Toda T, Nakanishi M. Li D, et al. Among authors: matsukawa t. Nat Aging. 2023 Aug;3(8):1001-1019. doi: 10.1038/s43587-023-00464-4. Epub 2023 Jul 20. Nat Aging. 2023. PMID: 37474791
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: matsukawa t. 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: matsukawa t. EClinicalMedicine. 2023 Apr 14;59:101920. doi: 10.1016/j.eclinm.2023.101920. eCollection 2023 May. EClinicalMedicine. 2023. PMID: 37256098 Free PMC article.
Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.
Hongo H, Miyawaki S, Teranishi Y, Mitsui J, Katoh H, Komura D, Tsubota K, Matsukawa T, Watanabe M, Kurita M, Yoshimura J, Dofuku S, Ohara K, Ishigami D, Okano A, Kato M, Hakuno F, Takahashi A, Kunita A, Ishiura H, Shin M, Nakatomi H, Nagao T, Goto H, Takahashi SI, Ushiku T, Ishikawa S, Okazaki M, Morishita S, Tsuji S, Saito N. Hongo H, et al. Among authors: matsukawa t. Angiogenesis. 2023 Feb;26(1):37-52. doi: 10.1007/s10456-022-09846-5. Epub 2022 Jul 29. Angiogenesis. 2023. PMID: 35902510 Free PMC article.
RFC1-related disorder presenting recurrent syncope.
Tsuboyama Y, Takahashi A, Furukawa S, Almansour A, Hamada M, Kubota A, Shimizu J, Kinoshita M, Fujimoto C, Mitsui J, Matsukawa T, Naruse H, Ishiura H, Tsuji S, Toda T. Tsuboyama Y, et al. Among authors: matsukawa t. J Neurol. 2024 Mar 7. doi: 10.1007/s00415-024-12231-5. Online ahead of print. J Neurol. 2024. PMID: 38451278 No abstract available.
[Pheochromocytoma].
Masamune T, Matsukawa T. Masamune T, et al. Among authors: matsukawa t. Masui. 2010 Jul;59(7):883-6. Masui. 2010. PMID: 20662291 Japanese.
Droperidol lowers the shivering threshold in rabbits.
Ueda K, Ishiyama T, Wada K, Muroya K, Kotoda M, Matsukawa T. Ueda K, et al. Among authors: matsukawa t. J Anesth. 2023 Dec;37(6):835-840. doi: 10.1007/s00540-023-03240-1. Epub 2023 Aug 11. J Anesth. 2023. PMID: 37566231
166 results