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

Year Number of Results
1962 1
1963 2
1964 1
1965 3
1966 3
1967 4
1968 2
1969 1
1970 5
1971 3
1972 9
1973 14
1974 9
1975 2
1976 9
1977 11
1978 12
1979 15
1980 11
1981 13
1982 11
1983 28
1984 16
1985 32
1986 16
1987 24
1988 19
1989 17
1990 25
1991 20
1992 12
1993 17
1994 19
1995 28
1996 33
1997 44
1998 37
1999 33
2000 45
2001 48
2002 65
2003 74
2004 85
2005 76
2006 101
2007 102
2008 71
2009 83
2010 89
2011 105
2012 99
2013 127
2014 150
2015 141
2016 158
2017 149
2018 192
2019 190
2020 208
2021 219
2022 214
2023 176
2024 189
2025 182
2026 89

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Search Results

3,524 results

Results by year

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Page 1
Coffin-Siris Syndrome.
Schrier Vergano S, Santen G, Wieczorek D, Matsumoto N. Schrier Vergano S, et al. Among authors: matsumoto n. 2013 Apr 4 [updated 2025 May 15]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2013 Apr 4 [updated 2025 May 15]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 23556151 Free Books & Documents. Review.
Japan-Multimodal Intervention Trial for the Prevention of Dementia: A randomized controlled trial.
Sakurai T, Sugimoto T, Akatsu H, Doi T, Fujiwara Y, Hirakawa A, Kinoshita F, Kuzuya M, Lee S, Matsumoto N, Matsuo K, Michikawa M, Nakamura A, Ogawa S, Otsuka R, Sato K, Shimada H, Suzuki H, Suzuki H, Takechi H, Takeda S, Uchida K, Umegaki H, Wakayama S, Arai H; J‐MINT study group. Sakurai T, et al. Among authors: matsumoto n. Alzheimers Dement. 2024 Jun;20(6):3918-3930. doi: 10.1002/alz.13838. Epub 2024 Apr 22. Alzheimers Dement. 2024. PMID: 38646854 Free PMC article. Clinical Trial.
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: matsumoto n. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Update of 18F-flurpiridaz.
Matsumoto N. Matsumoto N. Ann Nucl Cardiol. 2024;10(1):49-50. doi: 10.17996/anc.24-00008. Epub 2024 Oct 31. Ann Nucl Cardiol. 2024. PMID: 39635325 Free PMC article. Review.
A cross-population compendium of gene-environment interactions.
Namba S, Sonehara K, Koyanagi YN, Kikuchi T, Ojima T, Edahiro R, Sato G, Yamaji T, Tomofuji Y, Ueda H, Yamamoto K, Ogawa Y, Suzuki K, Kanai A, Higashiue S, Kobayashi S, Yamaguchi H, Nagata Y, Okazaki Y, Matsumoto N, Motomura K, Koga H, Hishida A, Ikezaki H, Hara M, Nagayoshi M, Oze I, Nakano S; BioBank Japan Project; Oda Y, Suzuki Y, Iwasaki M, Sawada N, Matsuo K, Morisaki T, Yamauchi T, Kadowaki T, Matsuda K, Okada Y. Namba S, et al. Among authors: matsumoto n. Nature. 2026 Mar;651(8106):688-697. doi: 10.1038/s41586-025-10054-6. Epub 2026 Jan 28. Nature. 2026. PMID: 41606330 Free PMC article.
A Clinical Study of Nine Patients With ReNU Syndrome.
Okamoto N, Nishi E, Hasegawa Y, Higuchi S, Kuki I, Yanagi K, Kaname T, Uchiyama Y, Matsumoto N. Okamoto N, et al. Among authors: matsumoto n. Am J Med Genet A. 2025 Nov;197(11):e64151. doi: 10.1002/ajmg.a.64151. Epub 2025 Jun 23. Am J Med Genet A. 2025. PMID: 40546132
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L; Genomics England Research Consortium; Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M. Shepherdson JL, et al. Among authors: matsumoto n. Am J Hum Genet. 2024 Mar 7;111(3):487-508. doi: 10.1016/j.ajhg.2024.01.007. Epub 2024 Feb 6. Am J Hum Genet. 2024. PMID: 38325380 Free PMC article.
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Õunap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan BO, Honjo RS, Bertola DR, Kim CA, Yusupov R, Mefford HC, Christodoulou J, Lee J, Heath O, Brown NJ, Baker N, Stark Z, Delatycki M, Lake NJ, Zeidler S, Zuurbier L, Maas SM, de Kruiff CC, Rajabi F, Rodan LH, Coury SA, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, Śmigiel R, Underhill H, Dubbs H, Rosen A, Helbig KL, Helbig I, Ruggiero SM, Fitzgerald MP, Kraemer D, Prada CE, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K VR, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke GC, Bamshad MJ, Campeau PM, Lehman A, Hendon LG, Wentzensen IM, Monaghan KG, Chen Y, Szuto A, Cohn RD, Au PYB, Hübner C, Boschann F, Manickam K, Koboldt DC, Rad A, Oprea G, Bachman KK, Seeley AH, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Roth… See abstract for full author list ➔ Asadollahi R, et al. Among authors: matsumoto n. Nat Genet. 2025 Nov;57(11):2691-2704. doi: 10.1038/s41588-025-02361-5. Epub 2025 Oct 22. Nat Genet. 2025. PMID: 41125872 Free PMC 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: matsumoto n. Ann Neurol. 2024 Mar;95(3):607-613. doi: 10.1002/ana.26848. Epub 2023 Dec 27. Ann Neurol. 2024. PMID: 38062616
3,524 results