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Journal Abstract Search

274 related items for PubMed ID: 8298642

  • 1. 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]

  • 2. 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
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  • 3. 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
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  • 4. 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
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  • 5. 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
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  • 7. Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis.
    Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres MC, Mackey RW.
    Ann Neurol; 1992 Jun; 31(6):663-8. PubMed ID: 1355335
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  • 9. 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
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  • 10. 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
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  • 11. 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; 27(10):1061-2. PubMed ID: 16941485
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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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  • 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 22; 16(2):223-8. PubMed ID: 18043720
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  • 14. Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor.
    Rees MI, Andrew M, Jawad S, Owen MJ.
    Hum Mol Genet; 1994 Dec 22; 3(12):2175-9. PubMed ID: 7881416
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  • 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 Dec 22; 152(6-7):447-50. PubMed ID: 8944241
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  • 17. Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene.
    Tijssen MA, Brown P, MacManus D, McLean MA, Davie C.
    Mov Disord; 2003 Dec 22; 18(12):1538-41. PubMed ID: 14673895
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  • 18. 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 22; 28(4):228-31. PubMed ID: 16478653
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  • 19. A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.
    Milani N, Dalprá L, del Prete A, Zanini R, Larizza L.
    Am J Hum Genet; 1996 Feb 22; 58(2):420-2. PubMed ID: 8571969
    [No Abstract] [Full Text] [Related]

  • 20. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 22; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

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