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Journal Abstract Search

95 related items for PubMed ID: 7477535

  • 1. [Startle disease: growing rigid with fear].
    Tijssen MA, van Dijk JG, Roos RA, Padberg GW.
    Ned Tijdschr Geneeskd; 1995 Sep 23; 139(38):1940-3. PubMed ID: 7477535
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  • 4. [A father with startle disease and a stiff newborn infant].
    Jokelainen M, Ritanen UM.
    Duodecim; 1991 Sep 23; 107(22):1884-6. PubMed ID: 1365969
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  • 9. 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 23; 38(1):85-91. PubMed ID: 7611730
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  • 12. Hyperekplexia-like syndromes without mutations in the GLRA1 gene.
    Vergouwe MN, Tijssen MA, Shiang R, van Dijk JG, al Shahwan S, Ophoff RA, Frants RR.
    Clin Neurol Neurosurg; 1997 Aug 23; 99(3):172-8. PubMed ID: 9350397
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  • 13. 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 23; 28(4):228-31. PubMed ID: 16478653
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  • 14. Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.
    Vergouwe MN, Tijssen MA, Peters AC, Wielaard R, Frants RR.
    Ann Neurol; 1999 Oct 23; 46(4):634-8. PubMed ID: 10514101
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  • 15. 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 23; 16(2):223-8. PubMed ID: 18043720
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  • 16. An unusual case of hyperekplexia.
    Jungbluth H, Rees MI, Manzur AY, Mercuri E, Sewry CA, Gobbi P, Muntoni F.
    Eur J Paediatr Neurol; 2000 Feb 23; 4(2):77-80. PubMed ID: 10817489
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  • 20. Startle disease-two sibling cases.
    Elkay M, Incecik F, Hergüner MO, Leblebisatan G, Altunbaşak S.
    Turk J Pediatr; 2005 Feb 23; 47(3):275-8. PubMed ID: 16250316
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