Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2000 1
2001 1
2004 5
2005 2
2007 1
2008 1
2009 3
2010 3
2011 2
2012 2
2013 5
2014 2
2016 2
2017 1
2018 2
2021 5
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

39 results

Results by year

Filters applied: . Clear all
Page 1
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.
Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE. Vance C, et al. Among authors: nishimura al. Science. 2009 Feb 27;323(5918):1208-1211. doi: 10.1126/science.1165942. Science. 2009. PMID: 19251628 Free PMC article.
Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons.
Shum C, Hedges EC, Allison J, Lee YB, Arias N, Cocks G, Chandran S, Ruepp MD, Shaw CE, Nishimura AL. Shum C, et al. Among authors: nishimura al. Stem Cell Reports. 2024 Feb 13;19(2):187-195. doi: 10.1016/j.stemcr.2023.12.007. Epub 2024 Jan 18. Stem Cell Reports. 2024. PMID: 38242131 Free PMC article.
C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity.
Selvaraj BT, Livesey MR, Zhao C, Gregory JM, James OT, Cleary EM, Chouhan AK, Gane AB, Perkins EM, Dando O, Lillico SG, Lee YB, Nishimura AL, Poreci U, Thankamony S, Pray M, Vasistha NA, Magnani D, Borooah S, Burr K, Story D, McCampbell A, Shaw CE, Kind PC, Aitman TJ, Whitelaw CBA, Wilmut I, Smith C, Miles GB, Hardingham GE, Wyllie DJA, Chandran S. Selvaraj BT, et al. Among authors: nishimura al. Nat Commun. 2018 Jan 24;9(1):347. doi: 10.1038/s41467-017-02729-0. Nat Commun. 2018. PMID: 29367641 Free PMC article.
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.
de Majo M, Topp SD, Smith BN, Nishimura AL, Chen HJ, Gkazi AS, Miller J, Wong CH, Vance C, Baas F, Ten Asbroek ALMA, Kenna KP, Ticozzi N, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Morrison KE, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, de Belleroche J, Gellera C, Ratti A, Al-Chalabi A, Brown RH, Silani V, Landers JE, Shaw CE. de Majo M, et al. Among authors: nishimura al. Neurobiol Aging. 2018 Nov;71:266.e1-266.e10. doi: 10.1016/j.neurobiolaging.2018.06.015. Epub 2018 Jun 25. Neurobiol Aging. 2018. PMID: 30033073 Free PMC article.
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.
Gotkine M, de Majo M, Wong CH, Topp SD, Michaelson-Cohen R, Epsztejn-Litman S, Eiges R, Y YL, Kanaan M, Shaked HM, Alahmady N, Vance C, Newhouse SJ, Breen G, Nishimura AL, Shaw CE, Smith BN. Gotkine M, et al. Among authors: nishimura al. Neurobiol Aging. 2021 Oct;106:351.e1-351.e6. doi: 10.1016/j.neurobiolaging.2021.05.009. Epub 2021 Jun 4. Neurobiol Aging. 2021. PMID: 34272080
39 results