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

Year Number of Results
1993 2
1998 1
1999 3
2000 2
2001 3
2002 3
2003 4
2004 3
2005 4
2006 4
2007 3
2008 4
2009 11
2010 6
2011 5
2012 5
2013 10
2014 13
2015 6
2016 3
2017 11
2018 12
2019 13
2020 15
2021 20
2022 27
2023 24
2024 6

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Search Results

194 results

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Page 1
CDKL5 deficiency disorder: clinical features, diagnosis, and management.
Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S. Leonard H, et al. Among authors: demarest s. Lancet Neurol. 2022 Jun;21(6):563-576. doi: 10.1016/S1474-4422(22)00035-7. Epub 2022 Apr 25. Lancet Neurol. 2022. PMID: 35483386 Free PMC article. Review.
Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.
Knowles JK, Helbig I, Metcalf CS, Lubbers LS, Isom LL, Demarest S, Goldberg EM, George AL Jr, Lerche H, Weckhuysen S, Whittemore V, Berkovic SF, Lowenstein DH. Knowles JK, et al. Among authors: demarest s. Epilepsia. 2022 Oct;63(10):2461-2475. doi: 10.1111/epi.17332. Epub 2022 Jul 17. Epilepsia. 2022. PMID: 35716052 Free PMC article. Review.
SLC6A1-Related Neurodevelopmental Disorder.
Goodspeed K, Demarest S, Johannesen K, Kang J, Lal D, Angione K. Goodspeed K, et al. Among authors: demarest s. 2023 Feb 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2023 Feb 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 36780407 Free Books & Documents. Review.
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Xian J, et al. Among authors: demarest s. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 Free PMC article.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. Galosi S, et al. Among authors: demarest s. Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. Brain. 2022. PMID: 34382076 Free PMC article.
Socioeconomic inequalities in health in 22 European countries.
Mackenbach JP, Stirbu I, Roskam AJ, Schaap MM, Menvielle G, Leinsalu M, Kunst AE; European Union Working Group on Socioeconomic Inequalities in Health. Mackenbach JP, et al. N Engl J Med. 2008 Jun 5;358(23):2468-81. doi: 10.1056/NEJMsa0707519. N Engl J Med. 2008. PMID: 18525043 Free article.
194 results