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

Year Number of Results
1990 3
1991 3
1992 3
1994 1
1995 2
1996 1
1997 1
1998 1
1999 1
2000 1
2001 2
2002 2
2003 1
2004 5
2005 13
2006 6
2007 8
2008 6
2009 6
2010 6
2011 5
2012 7
2013 8
2014 5
2015 6
2016 11
2017 3
2018 8
2019 5
2020 5
2021 4
2022 14
2023 12
2024 11

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152 results

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Page 1
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: eklund ea. Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. Brain. 2022. PMID: 34382076 Free PMC article.
Excessive copper impairs intrahepatocyte trafficking and secretion of selenoprotein P.
Schwarz M, Meyer CE, Löser A, Lossow K, Hackler J, Ott C, Jäger S, Mohr I, Eklund EA, Patel AAH, Gul N, Alvarez S, Altinonder I, Wiel C, Maares M, Haase H, Härtlova A, Grune T, Schulze MB, Schwerdtle T, Merle U, Zischka H, Sayin VI, Schomburg L, Kipp AP. Schwarz M, et al. Among authors: eklund ea. Nat Commun. 2023 Jun 13;14(1):3479. doi: 10.1038/s41467-023-39245-3. Nat Commun. 2023. PMID: 37311819 Free PMC article.
Regulation of HOX gene expression in AML.
Khan I, Amin MA, Eklund EA, Gartel AL. Khan I, et al. Among authors: eklund ea. Blood Cancer J. 2024 Mar 7;14(1):42. doi: 10.1038/s41408-024-01004-y. Blood Cancer J. 2024. PMID: 38453907 Free PMC article. Review.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmannd S. Vogel GF, et al. Among authors: eklund ea. Genet Med. 2023 Jun;25(6):100828. doi: 10.1016/j.gim.2023.100828. Epub 2023 Apr 13. Genet Med. 2023. PMID: 37272928 Free article. No abstract available.
Essentials of glycosylation.
Eklund EA, Freeze HH. Eklund EA, et al. Semin Pediatr Neurol. 2005 Sep;12(3):134-43. doi: 10.1016/j.spen.2005.11.001. Semin Pediatr Neurol. 2005. PMID: 16584072 Review. No abstract available.
Neurological aspects of human glycosylation disorders.
Freeze HH, Eklund EA, Ng BG, Patterson MC. Freeze HH, et al. Among authors: eklund ea. Annu Rev Neurosci. 2015 Jul 8;38:105-25. doi: 10.1146/annurev-neuro-071714-034019. Epub 2015 Apr 2. Annu Rev Neurosci. 2015. PMID: 25840006 Free PMC article. Review.
PRL2 phosphatase enhances oncogenic FLT3 signaling via dephosphorylation of the E3 ubiquitin ligase CBL at tyrosine 371.
Chen H, Bai Y, Kobayashi M, Xiao S, Cai W, Barajas S, Chen S, Miao J, Meke FN, Vemula S, Ropa JP, Croop JM, Boswell HS, Wan J, Jia Y, Liu H, Li LS, Altman JK, Eklund EA, Ji P, Tong W, Band H, Huang DT, Platanias LC, Zhang ZY, Liu Y. Chen H, et al. Among authors: eklund ea. Blood. 2023 Jan 19;141(3):244-259. doi: 10.1182/blood.2022016580. Blood. 2023. PMID: 36206490 Free PMC article.
Targeting novel signaling pathways for resistant acute myeloid leukemia.
Sakamoto KM, Grant S, Saleiro D, Crispino JD, Hijiya N, Giles F, Platanias L, Eklund EA. Sakamoto KM, et al. Among authors: eklund ea. Mol Genet Metab. 2015 Mar;114(3):397-402. doi: 10.1016/j.ymgme.2014.11.017. Epub 2014 Dec 5. Mol Genet Metab. 2015. PMID: 25533111 Free PMC article. Review.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. Vogel GF, et al. Among authors: eklund ea. Genet Med. 2023 Jun;25(6):100314. doi: 10.1016/j.gim.2022.09.015. Epub 2022 Oct 29. Genet Med. 2023. PMID: 36305855 Free article.
152 results