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Journal Abstract Search


181 related items for PubMed ID: 24198360

  • 1. The GLRA1 missense mutation W170S associates lack of Zn2+ potentiation with human hyperekplexia.
    Zhou N, Wang CH, Zhang S, Wu DC.
    J Neurosci; 2013 Nov 06; 33(45):17675-81. PubMed ID: 24198360
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  • 2. A Missense Mutation A384P Associated with Human Hyperekplexia Reveals a Desensitization Site of Glycine Receptors.
    Wang CH, Hernandez CC, Wu J, Zhou N, Hsu HY, Shen ML, Wang YC, Macdonald RL, Wu DC.
    J Neurosci; 2018 Mar 14; 38(11):2818-2831. PubMed ID: 29440552
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  • 4. Hyperekplexia phenotype of glycine receptor alpha1 subunit mutant mice identifies Zn(2+) as an essential endogenous modulator of glycinergic neurotransmission.
    Hirzel K, Müller U, Latal AT, Hülsmann S, Grudzinska J, Seeliger MW, Betz H, Laube B.
    Neuron; 2006 Nov 22; 52(4):679-90. PubMed ID: 17114051
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  • 9. Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation.
    Al-Futaisi AM, Al-Kindi MN, Al-Mawali AM, Koul RL, Al-Adawi S, Al-Yahyaee SA.
    Pediatr Neurol; 2012 Feb 22; 46(2):89-93. PubMed ID: 22264702
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  • 13. Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.
    Saul B, Kuner T, Sobetzko D, Brune W, Hanefeld F, Meinck HM, Becker CM.
    J Neurosci; 1999 Feb 01; 19(3):869-77. PubMed ID: 9920650
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  • 15. Distinct phenotypes in zebrafish models of human startle disease.
    Ganser LR, Yan Q, James VM, Kozol R, Topf M, Harvey RJ, Dallman JE.
    Neurobiol Dis; 2013 Dec 01; 60():139-51. PubMed ID: 24029548
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  • 16. Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.
    Chung SK, Vanbellinghen JF, Mullins JG, Robinson A, Hantke J, Hammond CL, Gilbert DF, Freilinger M, Ryan M, Kruer MC, Masri A, Gurses C, Ferrie C, Harvey K, Shiang R, Christodoulou J, Andermann F, Andermann E, Thomas RH, Harvey RJ, Lynch JW, Rees MI.
    J Neurosci; 2010 Jul 14; 30(28):9612-20. PubMed ID: 20631190
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  • 17. Presynaptic glycine receptors as a potential therapeutic target for hyperekplexia disease.
    Xiong W, Chen SR, He L, Cheng K, Zhao YL, Chen H, Li DP, Homanics GE, Peever J, Rice KC, Wu LG, Pan HL, Zhang L.
    Nat Neurosci; 2014 Feb 14; 17(2):232-9. PubMed ID: 24390226
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  • 18. The impact of human hyperekplexia mutations on glycine receptor structure and function.
    Bode A, Lynch JW.
    Mol Brain; 2014 Jan 09; 7():2. PubMed ID: 24405574
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  • 19. GLRB is the third major gene of effect in hyperekplexia.
    Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI.
    Hum Mol Genet; 2013 Mar 01; 22(5):927-40. PubMed ID: 23184146
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  • 20. Propofol modulation of α1 glycine receptors does not require a structural transition at adjacent subunits that is crucial to agonist-induced activation.
    Lynagh T, Kunz A, Laube B.
    ACS Chem Neurosci; 2013 Nov 20; 4(11):1469-78. PubMed ID: 23992940
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