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Journal Abstract Search

237 related items for PubMed ID: 28182669

  • 21.
    ; . PubMed ID:
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  • 22. Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders.
    Shepard N, Baez-Nieto D, Iqbal S, Kurganov E, Budnik N, Campbell AJ, Pan JQ, Sheng M, Farsi Z.
    Sci Rep; 2024 Feb 02; 14(1):2798. PubMed ID: 38307912
    [Abstract] [Full Text] [Related]

  • 23.
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  • 24. Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder.
    Li X, Xie LL, Han W, Hong SQ, Ma JN, Wang J, Jiang L.
    Front Pediatr; 2020 Feb 02; 8():574803. PubMed ID: 33240831
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  • 25.
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  • 26. 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.
    Am J Hum Genet; 2016 Oct 06; 99(4):802-816. PubMed ID: 27616483
    [Abstract] [Full Text] [Related]

  • 27. Altered zinc sensitivity of NMDA receptors harboring clinically-relevant mutations.
    Serraz B, Grand T, Paoletti P.
    Neuropharmacology; 2016 Oct 06; 109():196-204. PubMed ID: 27288002
    [Abstract] [Full Text] [Related]

  • 28.
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  • 29. De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.
    Li J, Zhang J, Tang W, Mizu RK, Kusumoto H, XiangWei W, Xu Y, Chen W, Amin JB, Hu C, Kannan V, Keller SR, Wilcox WR, Lemke JR, Myers SJ, Swanger SA, Wollmuth LP, Petrovski S, Traynelis SF, Yuan H.
    Hum Mutat; 2019 Dec 06; 40(12):2393-2413. PubMed ID: 31429998
    [Abstract] [Full Text] [Related]

  • 30. 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.
    Am J Hum Genet; 2016 Dec 01; 99(6):1261-1280. PubMed ID: 27839871
    [Abstract] [Full Text] [Related]

  • 31. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
    Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K.
    Nat Genet; 2010 Nov 01; 42(11):1021-6. PubMed ID: 20890276
    [Abstract] [Full Text] [Related]

  • 32.
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  • 33. Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation.
    Fainberg N, Harper A, Tchapyjnikov D, Mikati MA.
    Epileptic Disord; 2016 Mar 01; 18(1):97-100. PubMed ID: 26806548
    [Abstract] [Full Text] [Related]

  • 34. Effect of a GRIN2A de novo mutation associated with epilepsy and intellectual disability on NMDA receptor currents and Mg(2+) block in cultured primary cortical neurons.
    Marwick K, Skehel P, Hardingham G, Wyllie D.
    Lancet; 2015 Feb 26; 385 Suppl 1():S65. PubMed ID: 26312887
    [Abstract] [Full Text] [Related]

  • 35. Genetic and Functional Analysis of GRIN2A in Tumor Samples.
    Prickett TD, Gartner JJ, Samuels Y.
    Methods Mol Biol; 2017 Feb 26; 1677():93-116. PubMed ID: 28986867
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  • 36.
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  • 37. Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.
    Reutlinger C, Helbig I, Gawelczyk B, Subero JI, Tönnies H, Muhle H, Finsterwalder K, Vermeer S, Pfundt R, Sperner J, Stefanova I, Gillessen-Kaesbach G, von Spiczak S, van Baalen A, Boor R, Siebert R, Stephani U, Caliebe A.
    Epilepsia; 2010 Sep 26; 51(9):1870-3. PubMed ID: 20384727
    [Abstract] [Full Text] [Related]

  • 38. Efavirenz restored NMDA receptor dysfunction and inhibited epileptic seizures in GluN2A/Grin2a mutant mice.
    Zhao T, Zhong R, Zhang X, Li G, Zhou C, Fang S, Ding Y, Lin W.
    Front Neurosci; 2023 Sep 26; 17():1086462. PubMed ID: 36937661
    [Abstract] [Full Text] [Related]

  • 39. Immunotherapy for GRIN2A and GRIN2D-related epileptic encephalopathy.
    Hausman-Kedem M, Menascu S, Greenstein Y, Fattal-Valevski A.
    Epilepsy Res; 2020 Jul 26; 163():106325. PubMed ID: 32289570
    [Abstract] [Full Text] [Related]

  • 40. Opportunities for Precision Treatment of GRIN2A and GRIN2B Gain-of-Function Variants in Triheteromeric N-Methyl-D-Aspartate Receptors.
    Han W, Yuan H, Allen JP, Kim S, Shaulsky GH, Perszyk RE, Traynelis SF, Myers SJ.
    J Pharmacol Exp Ther; 2022 Apr 26; 381(1):54-66. PubMed ID: 35110392
    [Abstract] [Full Text] [Related]

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