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

Year Number of Results
2001 1
2002 2
2003 2
2004 2
2005 3
2006 4
2007 1
2008 2
2009 2
2010 3
2011 3
2012 1
2013 3
2014 5
2015 6
2016 12
2017 7
2018 21
2019 17
2020 13
2021 25
2022 14
2023 19
2024 12

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154 results

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Page 1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: sakai y. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Takata A, et al. Among authors: sakai y. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
Molecular diagnosis of 405 individuals with autism spectrum disorder.
Miyake N, Tsurusaki Y, Fukai R, Kushima I, Okamoto N, Ohashi K, Nakamura K, Hashimoto R, Hiraki Y, Son S, Kato M, Sakai Y, Osaka H, Deguchi K, Matsuishi T, Takeshita S, Fattal-Valevski A, Ekhilevitch N, Tohyama J, Yap P, Keng WT, Kobayashi H, Takubo K, Okada T, Saitoh S, Yasuda Y, Murai T, Nakamura K, Ohga S, Matsumoto A, Inoue K, Saikusa T, Hershkovitz T, Kobayashi Y, Morikawa M, Ito A, Hara T, Uno Y, Seiwa C, Ishizuka K, Shirahata E, Fujita A, Koshimizu E, Miyatake S, Takata A, Mizuguchi T, Ozaki N, Matsumoto N. Miyake N, et al. Among authors: sakai y. Eur J Hum Genet. 2023 Mar 27. doi: 10.1038/s41431-023-01335-7. Online ahead of print. Eur J Hum Genet. 2023. PMID: 36973392
The up-to-date pathophysiology of Kawasaki disease.
Hara T, Yamamura K, Sakai Y. Hara T, et al. Among authors: sakai y. Clin Transl Immunology. 2021 May 10;10(5):e1284. doi: 10.1002/cti2.1284. eCollection 2021. Clin Transl Immunology. 2021. PMID: 33981434 Free PMC article. Review.
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Sakamoto M, Iwama K, Sasaki M, Ishiyama A, Komaki H, Saito T, Takeshita E, Shimizu-Motohashi Y, Haginoya K, Kobayashi T, Goto T, Tsuyusaki Y, Iai M, Kurosawa K, Osaka H, Tohyama J, Kobayashi Y, Okamoto N, Suzuki Y, Kumada S, Inoue K, Mashimo H, Arisaka A, Kuki I, Saijo H, Yokochi K, Kato M, Inaba Y, Gomi Y, Saitoh S, Shirai K, Morimoto M, Izumi Y, Watanabe Y, Nagamitsu SI, Sakai Y, Fukumura S, Muramatsu K, Ogata T, Yamada K, Ishigaki K, Hirasawa K, Shimoda K, Akasaka M, Kohashi K, Sakakibara T, Ikuno M, Sugino N, Yonekawa T, Gürsoy S, Cinleti T, Kim CA, Teik KW, Yan CM, Haniffa M, Ohba C, Ito S, Saitsu H, Saida K, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Hamanaka K, Misawa K, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: sakai y. Genet Med. 2022 Dec;24(12):2453-2463. doi: 10.1016/j.gim.2022.08.007. Epub 2022 Oct 28. Genet Med. 2022. PMID: 36305856 Free article.
Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2.
Sakuma H, Takanashi JI, Muramatsu K, Kondo H, Shiihara T, Suzuki M, Okanari K, Kasai M, Mitani O, Nakazawa T, Omata T, Shimoda K, Abe Y, Maegaki Y, Murayama K, Murofushi Y, Nagase H, Okumura A, Sakai Y, Tada H, Mizuguchi M; Japanese Pediatric Neuro-COVID-19 Study Group. Sakuma H, et al. Among authors: sakai y. Front Neurosci. 2023 Feb 27;17:1085082. doi: 10.3389/fnins.2023.1085082. eCollection 2023. Front Neurosci. 2023. PMID: 36922927 Free PMC article.
Two-step nationwide epidemiological survey of myasthenia gravis in Japan 2018.
Yoshikawa H, Adachi Y, Nakamura Y, Kuriyama N, Murai H, Nomura Y, Sakai Y, Iwasa K, Furukawa Y, Kuwabara S, Matsui M; Taskforce of Validation of Evidence-based Diagnosis and Guidelines, and Impact on Quality of Life (QOL) in Patients with Neuroimmunological Diseases. Yoshikawa H, et al. Among authors: sakai y. PLoS One. 2022 Sep 21;17(9):e0274161. doi: 10.1371/journal.pone.0274161. eCollection 2022. PLoS One. 2022. PMID: 36129914 Free PMC article.
Angiogenic and inflammatory responses in human induced microglia-like (iMG) cells from patients with Moyamoya disease.
Shirozu N, Ohgidani M, Hata N, Tanaka S, Inamine S, Sagata N, Kimura T, Inoue I, Arimura K, Nakamizo A, Nishimura A, Maehara N, Takagishi S, Iwaki K, Nakao T, Masuda K, Sakai Y, Mizoguchi M, Yoshimoto K, Kato TA. Shirozu N, et al. Among authors: sakai y. Sci Rep. 2023 Sep 8;13(1):14842. doi: 10.1038/s41598-023-41456-z. Sci Rep. 2023. PMID: 37684266 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: sakai y. Sci Adv. 2021 Mar 24;7(13):eabd2368. doi: 10.1126/sciadv.abd2368. Print 2021 Mar. Sci Adv. 2021. PMID: 33762331 Free PMC article.
154 results