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214 related items for PubMed ID: 16478653

  • 1. 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; 28(4):228-31. PubMed ID: 16478653
    [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. 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]

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

  • 5. 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]

  • 6. An unusual case of hyperekplexia.
    Jungbluth H, Rees MI, Manzur AY, Mercuri E, Sewry CA, Gobbi P, Muntoni F.
    Eur J Paediatr Neurol; 2000 Mar 01; 4(2):77-80. PubMed ID: 10817489
    [Abstract] [Full Text] [Related]

  • 7. [Familial hyperekplexia: startle disease. Clinical, electrophysiological and genetic study of a family].
    Bernasconi A, Regli F, Schorderet DF, Pescia G.
    Rev Neurol (Paris); 1996 Mar 01; 152(6-7):447-50. PubMed ID: 8944241
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia.
    del Giudice EM, Coppola G, Bellini G, Cirillo G, Scuccimarra G, Pascotto A.
    Eur J Hum Genet; 2001 Nov 22; 9(11):873-6. PubMed ID: 11781706
    [Abstract] [Full Text] [Related]

  • 10. 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 22; 10(3):188-96. PubMed ID: 11973623
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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 15; 38(1):85-91. PubMed ID: 7611730
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 16(2):223-8. PubMed ID: 18043720
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients.
    Becker K, Hohoff C, Schmitt B, Christen HJ, Neubauer BA, Sandrieser T, Becker CM.
    Hum Mutat; 2006 Oct 22; 27(10):1061-2. PubMed ID: 16941485
    [Abstract] [Full Text] [Related]

  • 16. [Molecular bases of hereditary hyperekplexia].
    Giménez C, Zafra F, López-Corcuera B, Aragón C.
    Rev Neurol; 2006 Oct 22; 47(12):648-52. PubMed ID: 19085882
    [Abstract] [Full Text] [Related]

  • 17. Frontal lobe dysfunction in sporadic hyperekplexia--case study and literature review.
    Gaitatzis A, Kartsounis LD, Gacinovic S, Costa DC, Harvey K, Harvey RJ, de Silva RN.
    J Neurol; 2004 Jan 22; 251(1):91-8. PubMed ID: 14999495
    [Abstract] [Full Text] [Related]

  • 18. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.
    Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ.
    Nat Genet; 1993 Dec 22; 5(4):351-8. PubMed ID: 8298642
    [Abstract] [Full Text] [Related]

  • 19. A case of major form familial hyperekplexia: prenatal diagnosis and effective treatment with clonazepam.
    Doria Lamba L, Giribaldi G, De Negri E, Follo R, De Grandis E, Pintaudi M, Veneselli E.
    J Child Neurol; 2007 Jun 22; 22(6):769-72. PubMed ID: 17641268
    [Abstract] [Full Text] [Related]

  • 20. Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.
    Sirén A, Legros B, Chahine L, Misson JP, Pandolfo M.
    Neurology; 2006 Jul 11; 67(1):137-9. PubMed ID: 16832093
    [Abstract] [Full Text] [Related]

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