Kushner SA - Search Results

1

Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.

Heimer G, van Woerden GM, Barel O, Marek-Yagel D, Kol N, Munting JB, Borghei M, Atawneh OM, Nissenkorn A, Rechavi G, Anikster Y, Elgersma Y, Kushner SA, Ben Zeev B. Heimer G, et al. Among authors: kushner sa. Hum Mutat. 2020 Feb;41(2):476-486. doi: 10.1002/humu.23945. Epub 2019 Nov 15. Hum Mutat. 2020. PMID: 31692205

2

betaCaMKII controls the direction of plasticity at parallel fiber-Purkinje cell synapses.

van Woerden GM, Hoebeek FE, Gao Z, Nagaraja RY, Hoogenraad CC, Kushner SA, Hansel C, De Zeeuw CI, Elgersma Y. van Woerden GM, et al. Among authors: kushner sa. Nat Neurosci. 2009 Jul;12(7):823-5. doi: 10.1038/nn.2329. Epub 2009 Jun 7. Nat Neurosci. 2009. PMID: 19503086

3

Synaptic transmission and plasticity at inputs to murine cerebellar Purkinje cells are largely dispensable for standard nonmotor tasks.

Galliano E, Potters JW, Elgersma Y, Wisden W, Kushner SA, De Zeeuw CI, Hoebeek FE. Galliano E, et al. Among authors: kushner sa. J Neurosci. 2013 Jul 31;33(31):12599-618. doi: 10.1523/JNEUROSCI.1642-13.2013. J Neurosci. 2013. PMID: 23904597 Free PMC article.

4

Temporal and region-specific requirements of αCaMKII in spatial and contextual learning.

Achterberg KG, Buitendijk GH, Kool MJ, Goorden SM, Post L, Slump DE, Silva AJ, van Woerden GM, Kushner SA, Elgersma Y. Achterberg KG, et al. Among authors: kushner sa. J Neurosci. 2014 Aug 20;34(34):11180-7. doi: 10.1523/JNEUROSCI.0640-14.2014. J Neurosci. 2014. PMID: 25143599 Free PMC article.

5

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.

Silva-Santos S, van Woerden GM, Bruinsma CF, Mientjes E, Jolfaei MA, Distel B, Kushner SA, Elgersma Y. Silva-Santos S, et al. Among authors: kushner sa. J Clin Invest. 2015 May;125(5):2069-76. doi: 10.1172/JCI80554. Epub 2015 Apr 13. J Clin Invest. 2015. PMID: 25866966 Free PMC article.

6

HCN channels are a novel therapeutic target for cognitive dysfunction in Neurofibromatosis type 1.

Omrani A, van der Vaart T, Mientjes E, van Woerden GM, Hojjati MR, Li KW, Gutmann DH, Levelt CN, Smit AB, Silva AJ, Kushner SA, Elgersma Y. Omrani A, et al. Among authors: kushner sa. Mol Psychiatry. 2015 Nov;20(11):1311-21. doi: 10.1038/mp.2015.48. Epub 2015 Apr 28. Mol Psychiatry. 2015. PMID: 25917366 Free PMC article.

7

Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models.

Schreiber J, Grimbergen LA, Overwater I, Vaart TV, Stedehouder J, Schuhmacher AJ, Guerra C, Kushner SA, Jaarsma D, Elgersma Y. Schreiber J, et al. Among authors: kushner sa. Sci Rep. 2017 Apr 28;7(1):1256. doi: 10.1038/s41598-017-01218-0. Sci Rep. 2017. PMID: 28455524 Free PMC article.

8

The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function.

Proietti Onori M, Koopal B, Everman DB, Worthington JD, Jones JR, Ploeg MA, Mientjes E, van Bon BW, Kleefstra T, Schulman H, Kushner SA, Küry S, Elgersma Y, van Woerden GM. Proietti Onori M, et al. Among authors: kushner sa. Hum Mutat. 2018 Dec;39(12):2008-2024. doi: 10.1002/humu.23647. Epub 2018 Sep 19. Hum Mutat. 2018. PMID: 30184290 Free PMC article.

9

Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.

Avagliano Trezza R, Sonzogni M, Bossuyt SNV, Zampeta FI, Punt AM, van den Berg M, Rotaru DC, Koene LMC, Munshi ST, Stedehouder J, Kros JM, Williams M, Heussler H, de Vrij FMS, Mientjes EJ, van Woerden GM, Kushner SA, Distel B, Elgersma Y. Avagliano Trezza R, et al. Among authors: kushner sa. Nat Neurosci. 2019 Aug;22(8):1235-1247. doi: 10.1038/s41593-019-0425-0. Epub 2019 Jun 24. Nat Neurosci. 2019. PMID: 31235931

10

Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms.

Zampeta FI, Sonzogni M, Niggl E, Lendemeijer B, Smeenk H, de Vrij FMS, Kushner SA, Distel B, Elgersma Y. Zampeta FI, et al. Among authors: kushner sa. Hum Mol Genet. 2020 Nov 4;29(18):3032-3043. doi: 10.1093/hmg/ddaa194. Hum Mol Genet. 2020. PMID: 32879944 Free PMC article.

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