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Journal Abstract Search

154 related items for PubMed ID: 7763205

  • 1. Molecular genetic reevaluation of the Dutch hyperekplexia family.
    Tijssen MA, Shiang R, van Deutekom J, Boerman RH, Wasmuth JJ, Sandkuijl LA, Frants RR, Padberg GW.
    Arch Neurol; 1995 Jun; 52(6):578-82. PubMed ID: 7763205
    [Abstract] [Full Text] [Related]

  • 2. Startle responses in hereditary hyperekplexia.
    Tijssen MA, Voorkamp LM, Padberg GW, van Dijk JG.
    Arch Neurol; 1997 Apr; 54(4):388-93. PubMed ID: 9109739
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  • 3. 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; 99(3):172-8. PubMed ID: 9350397
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  • 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
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  • 6. Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.
    Vergouwe MN, Tijssen MA, Peters AC, Wielaard R, Frants RR.
    Ann Neurol; 1999 Oct; 46(4):634-8. PubMed ID: 10514101
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  • 7. Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.
    Elmslie FV, Hutchings SM, Spencer V, Curtis A, Covanis T, Gardiner RM, Rees M.
    J Med Genet; 1996 May; 33(5):435-6. PubMed ID: 8733061
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  • 8. [Familial hyperekplexia: startle disease. Clinical, electrophysiological and genetic study of a family].
    Bernasconi A, Regli F, Schorderet DF, Pescia G.
    Rev Neurol (Paris); 1996 May; 152(6-7):447-50. PubMed ID: 8944241
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  • 9. Advances in hyperekplexia and other startle syndromes.
    Zhan FX, Wang SG, Cao L.
    Neurol Sci; 2021 Oct; 42(10):4095-4107. PubMed ID: 34379238
    [Abstract] [Full Text] [Related]

  • 10. Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report.
    Sprovieri T, Ungaro C, Sivo S, Quintiliani M, Contaldo I, Veredice C, Citrigno L, Muglia M, Cavalcanti F, Cavallaro S, Mercuri E, Battaglia D.
    BMC Med Genet; 2019 Mar 12; 20(1):40. PubMed ID: 30866851
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  • 11. 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 12; 31(6):663-8. PubMed ID: 1355335
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  • 12. Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.
    Ryan SG, Dixon MJ, Nigro MA, Kelts KA, Markand ON, Terry JC, Shiang R, Wasmuth JJ, O'Connell P.
    Am J Hum Genet; 1992 Dec 12; 51(6):1334-43. PubMed ID: 1334371
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  • 13. A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.
    Milenkovic I, Zimprich A, Gencik M, Platho-Elwischger K, Seidel S.
    J Neural Transm (Vienna); 2018 Dec 12; 125(12):1877-1883. PubMed ID: 30182260
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  • 14. Hyperekplexia: abnormal startle response due to glycine receptor mutations.
    Andrew M, Owen MJ.
    Br J Psychiatry; 1997 Feb 12; 170():106-8. PubMed ID: 9093496
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  • 15. Hyperekplexia.
    Kurczynski TW.
    Arch Neurol; 1983 Apr 12; 40(4):246-8. PubMed ID: 6830476
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  • 16. 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 12; 3(12):2175-9. PubMed ID: 7881416
    [Abstract] [Full Text] [Related]

  • 17. Clinical and genetic investigation of 17 Japanese patients with hyperekplexia.
    Mine J, Taketani T, Yoshida K, Yokochi F, Kobayashi J, Maruyama K, Nanishi E, Ono M, Yokoyama A, Arai H, Tamaura S, Suzuki Y, Otsubo S, Hayashi T, Kimura M, Kishi K, Yamaguchi S.
    Dev Med Child Neurol; 2015 Apr 12; 57(4):372-7. PubMed ID: 25356525
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