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

Year Number of Results
2004 1
2006 2
2008 1
2009 2
2010 4
2011 4
2012 5
2013 6
2014 6
2015 3
2016 13
2017 15
2018 19
2019 14
2020 15
2021 14
2022 24
2023 15
2024 6

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141 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: mitsui j. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332380
PHACES-like syndrome with TMEM260 compound heterozygous variants.
Kuroda Y, Saito Y, Enomoto Y, Naruto T, Mitsui J, Kurosawa K. Kuroda Y, et al. Among authors: mitsui j. Am J Med Genet A. 2023 Aug;191(8):2215-2218. doi: 10.1002/ajmg.a.63245. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183566
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: mitsui j. 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.
Genomic aspects of sporadic neurodegenerative diseases.
Mitsui J, Tsuji S. Mitsui J, et al. Biochem Biophys Res Commun. 2014 Sep 19;452(2):221-5. doi: 10.1016/j.bbrc.2014.07.098. Epub 2014 Jul 28. Biochem Biophys Res Commun. 2014. PMID: 25078619 Review.
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: mitsui j. J Neurol. 2024 Mar 7. doi: 10.1007/s00415-024-12231-5. Online ahead of print. J Neurol. 2024. PMID: 38451278 No abstract available.
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: mitsui j. 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. EClinicalMedicine. 2023 Apr 14;59:101920. doi: 10.1016/j.eclinm.2023.101920. eCollection 2023 May. EClinicalMedicine. 2023. PMID: 37256098 Free PMC article.
Meningiomas in patients with neurofibromatosis type 2 predominantly comprise 'immunogenic subtype' tumours characterised by macrophage infiltration.
Teranishi Y, Miyawaki S, Nakatochi M, Okano A, Ohara K, Hongo H, Ishigami D, Sakai Y, Shimada D, Takayanagi S, Ikemura M, Komura D, Katoh H, Mitsui J, Morishita S, Ushiku T, Ishikawa S, Nakatomi H, Saito N. Teranishi Y, et al. Among authors: mitsui j. Acta Neuropathol Commun. 2023 Sep 26;11(1):156. doi: 10.1186/s40478-023-01645-3. Acta Neuropathol Commun. 2023. PMID: 37752594 Free PMC article.
141 results