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Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.
Brain. 2019 Oct 1;142(10):3009-3027. doi: 10.1093/brain/awz232.
Brain. 2019.
PMID: 31504254
Free PMC article.
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hörtnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ.
Li D, et al. Among authors: kosobucki gj.
Am J Hum Genet. 2016 Oct 6;99(4):802-816. doi: 10.1016/j.ajhg.2016.07.013. Epub 2016 Sep 8.
Am J Hum Genet. 2016.
PMID: 27616483
Free PMC article.
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Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.
Ogden KK, Chen W, Swanger SA, McDaniel MJ, Fan LZ, Hu C, Tankovic A, Kusumoto H, Kosobucki GJ, Schulien AJ, Su Z, Pecha J, Bhattacharya S, Petrovski S, Cohen AE, Aizenman E, Traynelis SF, Yuan H.
Ogden KK, et al. Among authors: kosobucki gj.
PLoS Genet. 2017 Jan 17;13(1):e1006536. doi: 10.1371/journal.pgen.1006536. eCollection 2017 Jan.
PLoS Genet. 2017.
PMID: 28095420
Free PMC article.
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Imprecision in Precision Medicine: Differential Response of a Disease-Linked GluN2A Mutant to NMDA Channel Blockers.
Gale JR, Kosobucki GJ, Hartnett-Scott KA, Aizenman E.
Gale JR, et al. Among authors: kosobucki gj.
Front Pharmacol. 2021 Oct 28;12:773455. doi: 10.3389/fphar.2021.773455. eCollection 2021.
Front Pharmacol. 2021.
PMID: 34776984
Free PMC article.
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Molecular Neuroprotection Induced by Zinc-Dependent Expression of Hepatitis C-Derived Protein NS5A Targeting Kv2.1 Potassium Channels.
Justice JA, Manjooran DT, Yeh CY, Hartnett-Scott KA, Schulien AJ, Kosobucki GJ, Mammen S, Palladino MJ, Aizenman E.
Justice JA, et al. Among authors: kosobucki gj.
J Pharmacol Exp Ther. 2018 Nov;367(2):348-355. doi: 10.1124/jpet.118.252338. Epub 2018 Sep 6.
J Pharmacol Exp Ther. 2018.
PMID: 30190339
Free PMC article.
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