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Journal Abstract Search

148 related items for PubMed ID: 11781706

  • 1. 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; 9(11):873-6. PubMed ID: 11781706
    [Abstract] [Full Text] [Related]

  • 2. 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; 10(3):188-96. PubMed ID: 11973623
    [Abstract] [Full Text] [Related]

  • 3. 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; 5(4):351-8. PubMed ID: 8298642
    [Abstract] [Full Text] [Related]

  • 4. 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]

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

  • 8. 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]

  • 9. 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]

  • 10. Major and minor form of hereditary hyperekplexia.
    Tijssen MA, Vergouwe MN, van Dijk JG, Rees M, Frants RR, Brown P.
    Mov Disord; 2002 Jul 15; 17(4):826-30. PubMed ID: 12210885
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 28(4):228-31. PubMed ID: 16478653
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 27(10):1061-2. PubMed ID: 16941485
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel.
    Lynch JW, Rajendra S, Pierce KD, Handford CA, Barry PH, Schofield PR.
    EMBO J; 1997 Jan 02; 16(1):110-20. PubMed ID: 9009272
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder.
    Lapunzina P, Sánchez JM, Cabrera M, Moreno A, Delicado A, de Torres ML, Mori AM, Quero J, Lopez Pajares I.
    Mol Diagn; 2003 Jun 15; 7(2):125-8. PubMed ID: 14580232
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 20(12):1626-9. PubMed ID: 16078201
    [Abstract] [Full Text] [Related]

  • 18. Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.
    Hmami F, Wood SE, Chaouki S, Oulmaati A, Hida M, Rees MI, Chung SK, Bouharrou A.
    Epileptic Disord; 2014 Sep 15; 16(3):354-7. PubMed ID: 25036534
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia.
    Poon WT, Au KM, Chan YW, Chan KY, Chow CB, Tong SF, Lam CW.
    Clin Chim Acta; 2006 Feb 11; 364(1-2):361-2. PubMed ID: 16236274
    [No Abstract] [Full Text] [Related]

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