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

Year Number of Results
2002 6
2003 5
2004 8
2005 8
2006 5
2007 4
2008 7
2009 11
2010 15
2011 17
2012 23
2013 23
2014 11
2015 24
2016 26
2017 17
2018 22
2019 21
2020 23
2021 37
2022 27
2023 17
2024 15
2025 17
2026 2

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336 results

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Page 1
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G. Sone J, et al. Among authors: doi h. Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332381
Multi-omics analysis using antibody-based in situ biotinylation technique suggests the mechanism of Cajal body formation.
Noguchi K, Suzuki H, Abe R, Horiuchi K, Onoguchi-Mizutani R, Akimitsu N, Ogawa S, Akiyama T, Ike Y, Ino Y, Kimura Y, Ryo A, Doi H, Tanaka F, Suzuki Y, Toyoda A, Yamaguchi Y, Takahashi H. Noguchi K, et al. Among authors: doi h. Cell Rep. 2024 Sep 24;43(9):114734. doi: 10.1016/j.celrep.2024.114734. Epub 2024 Sep 15. Cell Rep. 2024. PMID: 39283744 Free article.
RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.
Wada T, Doi H, Okubo M, Tada M, Ueda N, Suzuki H, Tominaga W, Koike H, Komiya H, Kubota S, Hashiguchi S, Nakamura H, Takahashi K, Kunii M, Tanaka K, Miyaji Y, Higashiyama Y, Koshimizu E, Miyatake S, Katsuno M, Fujii S, Takahashi H, Matsumoto N, Takeuchi H, Tanaka F. Wada T, et al. Among authors: doi h. Ann Neurol. 2024 Mar;95(3):607-613. doi: 10.1002/ana.26848. Epub 2023 Dec 27. Ann Neurol. 2024. PMID: 38062616
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.
Miyatake S, Doi H, Yaguchi H, Koshimizu E, Kihara N, Matsubara T, Mori Y, Kunieda K, Shimizu Y, Toyota T, Shirai S, Matsushima M, Okubo M, Wada T, Kunii M, Johkura K, Miyamoto R, Osaki Y, Miyama T, Satoh M, Fujita A, Uchiyama Y, Tsuchida N, Misawa K, Hamanaka K, Hamanoue H, Mizuguchi T, Morino H, Izumi Y, Shimohata T, Yoshida K, Adachi H, Tanaka F, Yabe I, Matsumoto N. Miyatake S, et al. Among authors: doi h. J Neurol Neurosurg Psychiatry. 2024 Nov 18;95(12):1187-1195. doi: 10.1136/jnnp-2024-333541. J Neurol Neurosurg Psychiatry. 2024. PMID: 38816190 Free article.
[Chronic Cough in CANVAS].
Doi H, Tanaka F. Doi H, et al. Brain Nerve. 2022 Nov;74(11):1267-1271. doi: 10.11477/mf.1416202226. Brain Nerve. 2022. PMID: 36343931 Japanese.
Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome.
Maeda A, Tsuchida N, Uchiyama Y, Horita N, Kobayashi S, Kishimoto M, Kobayashi D, Matsumoto H, Asano T, Migita K, Kato A, Mori I, Morita H, Matsubara A, Marumo Y, Ito Y, Machiyama T, Shirai T, Ishii T, Kishibe M, Yoshida Y, Hirata S, Akao S, Higuchi A, Rokutanda R, Nagahata K, Takahashi H, Katsuo K, Ohtani T, Fujiwara H, Nagano H, Hosokawa T, Ito T, Haji Y, Yamaguchi H, Hagino N, Shimizu T, Koga T, Kawakami A, Kageyama G, Kobayashi H, Aoki A, Mizokami A, Takeuchi Y, Motohashi R, Hagiyama H, Itagane M, Teruya H, Kato T, Miyoshi Y, Kise T, Yokogawa N, Ishida T, Umeda N, Isogai S, Naniwa T, Yamabe T, Uchino K, Kanasugi J, Takami A, Kondo Y, Furuhashi K, Saito K, Ohno S, Kishimoto D, Yamamoto M, Fujita Y, Fujieda Y, Araki S, Tsushima H, Misawa K, Katagiri A, Kobayashi T, Hashimoto K, Sone T, Hidaka Y, Ida H, Nishikomori R, Doi H, Fujimaki K, Akasaka K, Amano M, Matsushima H, Kashino K, Ohnishi H, Miwa Y, Takahashi N, Takase-Minegishi K, Yoshimi R, Kirino Y, Nakajima H, Matsumoto N. Maeda A, et al. Among authors: doi h. Rheumatology (Oxford). 2024 Aug 1;63(8):2056-2064. doi: 10.1093/rheumatology/kead425. Rheumatology (Oxford). 2024. PMID: 37606963
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Gavazzi F, Charsar B, Hamilton E, Erler JA, Patel V, Woidill S, Sevagamoorthy A, Helman G, Schmidt J, Pizzino A, Muirhead K, Takanohashi A, Bonkowsky JL, Meyerhoffer K, Simons C, Doi H, Satoko M, Matsumoto N, Delgado MR, Sanchez-Castillo M, Wang J, de Carvalho DR, Tournev I, Chamova T, Jordanova A, Clegg NJ, Nicita F, Bertini E, Teng M, Williams D, Tonduti D, Houlden H, Stellingwerff M, Wassmer E, Garcia-Cazorla A, Bernard G, Mirchi A, Toutounchi H, Wolf NI, van der Knaap MS, Shults J, Adang LA, Vanderver AL. Gavazzi F, et al. Among authors: doi h. Mol Genet Metab. 2025 Mar;144(3):109048. doi: 10.1016/j.ymgme.2025.109048. Epub 2025 Feb 1. Mol Genet Metab. 2025. PMID: 39951964 Free PMC article.
De novo ATP1A3 variants cause polymicrogyria.
Miyatake S, Kato M, Kumamoto T, Hirose T, Koshimizu E, Matsui T, Takeuchi H, Doi H, Hamada K, Nakashima M, Sasaki K, Yamashita A, Takata A, Hamanaka K, Satoh M, Miyama T, Sonoda Y, Sasazuki M, Torisu H, Hara T, Sakai Y, Noguchi Y, Miura M, Nishimura Y, Nakamura K, Asai H, Hinokuma N, Miya F, Tsunoda T, Togawa M, Ikeda Y, Kimura N, Amemiya K, Horino A, Fukuoka M, Ikeda H, Merhav G, Ekhilevitch N, Miura M, Mizuguchi T, Miyake N, Suzuki A, Ohga S, Saitsu H, Takahashi H, Tanaka F, Ogata K, Ohtaka-Maruyama C, Matsumoto N. Miyatake S, et al. Among authors: doi h. Sci Adv. 2021 Mar 24;7(13):eabd2368. doi: 10.1126/sciadv.abd2368. Print 2021 Mar. Sci Adv. 2021. PMID: 33762331 Free PMC article.
Siponimod inhibits microglial inflammasome activation.
Komiya H, Takeuchi H, Ogasawara A, Ogawa Y, Kubota S, Hashiguchi S, Takahashi K, Kunii M, Tanaka K, Tada M, Doi H, Tanaka F. Komiya H, et al. Among authors: doi h. Neurosci Res. 2025 Apr;213:138-145. doi: 10.1016/j.neures.2025.02.002. Epub 2025 Feb 5. Neurosci Res. 2025. PMID: 39921000 Free article.
Anti-inflammatory effects of siponimod on astrocytes.
Ogasawara A, Takeuchi H, Komiya H, Ogawa Y, Nishimura K, Kubota S, Hashiguchi S, Takahashi K, Kunii M, Tanaka K, Tada M, Doi H, Tanaka F. Ogasawara A, et al. Among authors: doi h. Neurosci Res. 2022 Nov;184:38-46. doi: 10.1016/j.neures.2022.08.003. Epub 2022 Aug 5. Neurosci Res. 2022. PMID: 35940437
336 results