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GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
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.
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.
Swanger SA, Chen W, Wells G, Burger PB, Tankovic A, Bhattacharya S, Strong KL, Hu C, Kusumoto H, Zhang J, Adams DR, Millichap JJ, Petrovski S, Traynelis SF, Yuan H.
Swanger SA, et al. Among authors: tankovic a.
Am J Hum Genet. 2016 Dec 1;99(6):1261-1280. doi: 10.1016/j.ajhg.2016.10.002. Epub 2016 Nov 10.
Am J Hum Genet. 2016.
PMID: 27839871
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: tankovic a.
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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Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.
Chen W, Tankovic A, Burger PB, Kusumoto H, Traynelis SF, Yuan H.
Chen W, et al. Among authors: tankovic a.
Mol Pharmacol. 2017 Apr;91(4):317-330. doi: 10.1124/mol.116.106781. Epub 2017 Jan 26.
Mol Pharmacol. 2017.
PMID: 28126851
Free PMC article.
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A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.
Gao K, Tankovic A, Zhang Y, Kusumoto H, Zhang J, Chen W, XiangWei W, Shaulsky GH, Hu C, Traynelis SF, Yuan H, Jiang Y.
Gao K, et al. Among authors: tankovic a.
PLoS One. 2017 Feb 9;12(2):e0170818. doi: 10.1371/journal.pone.0170818. eCollection 2017.
PLoS One. 2017.
PMID: 28182669
Free PMC article.
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GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.
Chen W, Shieh C, Swanger SA, Tankovic A, Au M, McGuire M, Tagliati M, Graham JM, Madan-Khetarpal S, Traynelis SF, Yuan H, Pierson TM.
Chen W, et al. Among authors: tankovic a.
J Hum Genet. 2017 Jun;62(6):589-597. doi: 10.1038/jhg.2017.19. Epub 2017 Feb 23.
J Hum Genet. 2017.
PMID: 28228639
Free PMC article.
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GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.
Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC; PhD for the NISC Comparative Sequencing Program; Tifft CJ, Toro C, Boerkoel CF, Traynelis SF, Gahl WA.
Pierson TM, et al. Among authors: tankovic a.
Ann Clin Transl Neurol. 2014 Mar 1;1(3):190-198. doi: 10.1002/acn3.39.
Ann Clin Transl Neurol. 2014.
PMID: 24839611
Free PMC article.
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De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Xu Y, Song R, Perszyk RE, Chen W, Kim S, Park KL, Allen JP, Nocilla KA, Zhang J, XiangWei W, Tankovic A, McDaniels ED, Sheikh R, Mizu RK, Karamchandani MM, Hu C, Kusumoto H, Pecha J, Cappuccio G, Gaitanis J, Sullivan J, Shashi V, Petrovski S, Jauss RT, Lee HK, Bozarth X, Lynch DR, Helbig I, Pierson TM, Boerkoel CF, Myers SJ, Lemke JR, Benke TA, Yuan H, Traynelis SF.
Xu Y, et al. Among authors: tankovic a.
Cell Mol Life Sci. 2024 Mar 28;81(1):153. doi: 10.1007/s00018-023-05069-z.
Cell Mol Life Sci. 2024.
PMID: 38538865
Free PMC article.
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