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

Year Number of Results
2008 3
2009 9
2010 3
2011 7
2012 2
2013 9
2014 15
2015 15
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2017 17
2018 23
2019 23
2020 24
2021 35
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2024 0

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Similar articles for PMID: 29395074

204 results

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OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D'Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M, Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer SW, Singh KK. Uddin M, et al. Am J Hum Genet. 2018 Feb 1;102(2):278-295. doi: 10.1016/j.ajhg.2018.01.006. Am J Hum Genet. 2018. PMID: 29395074 Free PMC article.
A mouse model that recapitulates cardinal features of the 15q13.3 microdeletion syndrome including schizophrenia- and epilepsy-related alterations.
Fejgin K, Nielsen J, Birknow MR, Bastlund JF, Nielsen V, Lauridsen JB, Stefansson H, Steinberg S, Sorensen HB, Mortensen TE, Larsen PH, Klewe IV, Rasmussen SV, Stefansson K, Werge TM, Kallunki P, Christensen KV, Didriksen M. Fejgin K, et al. Biol Psychiatry. 2014 Jul 15;76(2):128-37. doi: 10.1016/j.biopsych.2013.08.014. Epub 2013 Oct 3. Biol Psychiatry. 2014. PMID: 24090792
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Garret P, Ebstein F, Delplancq G, Dozieres-Puyravel B, Boughalem A, Auvin S, Duffourd Y, Klafack S, Zieba BA, Mahmoudi S, Singh KK, Duplomb L, Thauvin-Robinet C, Costa JM, Krüger E, Trost D, Verloes A, Faivre L, Vitobello A. Garret P, et al. Clin Genet. 2020 Apr;97(4):567-575. doi: 10.1111/cge.13709. Epub 2020 Feb 11. Clin Genet. 2020. PMID: 31997314
A mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairment.
Nilsson SRO, Celada P, Fejgin K, Thelin J, Nielsen J, Santana N, Heath CJ, Larsen PH, Nielsen V, Kent BA, Saksida LM, Stensbøl TB, Robbins TW, Bastlund JF, Bussey TJ, Artigas F, Didriksen M. Nilsson SRO, et al. Psychopharmacology (Berl). 2016 Jun;233(11):2151-2163. doi: 10.1007/s00213-016-4265-2. Epub 2016 Mar 17. Psychopharmacology (Berl). 2016. PMID: 26983414 Free PMC article.
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome.
Unda BK, Chalil L, Yoon S, Kilpatrick S, Irwin C, Xing S, Murtaza N, Cheng A, Brown C, Afonso A, McCready E, Ronen GM, Howe J, Caye-Eude A, Verloes A, Doble BW, Faivre L, Vitobello A, Scherer SW, Lu Y, Penzes P, Singh KK. Unda BK, et al. Mol Psychiatry. 2023 Apr;28(4):1747-1769. doi: 10.1038/s41380-022-01937-5. Epub 2023 Jan 6. Mol Psychiatry. 2023. PMID: 36604605 Free PMC article.
204 results