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Journal Abstract Search

255 related items for PubMed ID: 11702206

  • 1. Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia.
    Rees MI, Lewis TM, Vafa B, Ferrie C, Corry P, Muntoni F, Jungbluth H, Stephenson JB, Kerr M, Snell RG, Schofield PR, Owen MJ.
    Hum Genet; 2001 Sep; 109(3):267-70. PubMed ID: 11702206
    [Abstract] [Full Text] [Related]

  • 2. 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; 46(2):89-93. PubMed ID: 22264702
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene.
    Kimura M, Taketani T, Horie A, Isumi H, Sejima H, Yamaguchi S.
    Brain Dev; 2006 May 01; 28(4):228-31. PubMed ID: 16478653
    [Abstract] [Full Text] [Related]

  • 5. A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse.
    Ryan SG, Buckwalter MS, Lynch JW, Handford CA, Segura L, Shiang R, Wasmuth JJ, Camper SA, Schofield P, O'Connell P.
    Nat Genet; 1994 Jun 01; 7(2):131-5. PubMed ID: 7920629
    [Abstract] [Full Text] [Related]

  • 6. The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor.
    Becker K, Breitinger HG, Humeny A, Meinck HM, Dietz B, Aksu F, Becker CM.
    Eur J Hum Genet; 2008 Feb 01; 16(2):223-8. PubMed ID: 18043720
    [Abstract] [Full Text] [Related]

  • 7. Mutational analysis of familial and sporadic hyperekplexia.
    Shiang R, Ryan SG, Zhu YZ, Fielder TJ, Allen RJ, Fryer A, Yamashita S, O'Connell P, Wasmuth JJ.
    Ann Neurol; 1995 Jul 01; 38(1):85-91. PubMed ID: 7611730
    [Abstract] [Full Text] [Related]

  • 8. A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking.
    Humeny A, Bonk T, Becker K, Jafari-Boroujerdi M, Stephani U, Reuter K, Becker CM.
    Eur J Hum Genet; 2002 Mar 01; 10(3):188-96. PubMed ID: 11973623
    [Abstract] [Full Text] [Related]

  • 9. Major and minor form of hereditary hyperekplexia.
    Tijssen MA, Vergouwe MN, van Dijk JG, Rees M, Frants RR, Brown P.
    Mov Disord; 2002 Jul 01; 17(4):826-30. PubMed ID: 12210885
    [Abstract] [Full Text] [Related]

  • 10. The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism.
    Milani N, Mülhardt C, Weber RG, Lichter P, Kioschis P, Poustka A, Becker CM.
    Genomics; 1998 Jun 15; 50(3):341-5. PubMed ID: 9676428
    [Abstract] [Full Text] [Related]

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  • 12. Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
    Eulenburg V, Becker K, Gomeza J, Schmitt B, Becker CM, Betz H.
    Biochem Biophys Res Commun; 2006 Sep 22; 348(2):400-5. PubMed ID: 16884688
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  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. [Familial hyperekplexia: startle disease. Clinical, electrophysiological and genetic study of a family].
    Bernasconi A, Regli F, Schorderet DF, Pescia G.
    Rev Neurol (Paris); 1996 Jul 14; 152(6-7):447-50. PubMed ID: 8944241
    [Abstract] [Full Text] [Related]

  • 16. Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.
    Coto E, Armenta D, Espinosa R, Argente J, Castro MG, Alvarez V.
    Mov Disord; 2005 Dec 14; 20(12):1626-9. PubMed ID: 16078201
    [Abstract] [Full Text] [Related]

  • 17. Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability.
    Villmann C, Oertel J, Melzer N, Becker CM.
    J Neurochem; 2009 Nov 14; 111(3):837-47. PubMed ID: 19732286
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. A novel GLRA1 mutation in a recessive hyperekplexia pedigree.
    Forsyth RJ, Gika AD, Ginjaar I, Tijssen MA.
    Mov Disord; 2007 Aug 15; 22(11):1643-5. PubMed ID: 17534957
    [Abstract] [Full Text] [Related]

  • 20. Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
    Thomas RH, Chung SK, Wood SE, Cushion TD, Drew CJ, Hammond CL, Vanbellinghen JF, Mullins JG, Rees MI.
    Brain; 2013 Oct 15; 136(Pt 10):3085-95. PubMed ID: 24030948
    [Abstract] [Full Text] [Related]

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