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Journal Abstract Search

154 related items for PubMed ID: 7763205

  • 21.
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  • 22. Identification of a de novo Lys304Gln mutation in the glycine receptor alpha-1 subunit gene in a Korean infant with hyperekplexia.
    Kang HC, Jeong You S, Jae Chey M, Sam Baik J, Kim JW, Ki CS.
    Mov Disord; 2008 Mar 15; 23(4):610-3. PubMed ID: 18175347
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  • 24. [A pedigree of hereditary hyperekplexia].
    Moriyoshi H, Hata Y, Inagaki R, Suzuki J, Nishida S, Nishida N, Ito Y.
    Rinsho Shinkeigaku; 2018 Jul 27; 58(7):435-439. PubMed ID: 29962440
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  • 26. Hyperekplexia and other startle syndromes.
    Saini AG, Pandey S.
    J Neurol Sci; 2020 Sep 15; 416():117051. PubMed ID: 32721683
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  • 29. Hyperekplexia in neonates.
    Praveen V, Patole SK, Whitehall JS.
    Postgrad Med J; 2001 Sep 15; 77(911):570-2. PubMed ID: 11524514
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  • 32. A Missense Mutation A384P Associated with Human Hyperekplexia Reveals a Desensitization Site of Glycine Receptors.
    Wang CH, Hernandez CC, Wu J, Zhou N, Hsu HY, Shen ML, Wang YC, Macdonald RL, Wu DC.
    J Neurosci; 2018 Mar 14; 38(11):2818-2831. PubMed ID: 29440552
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  • 33. Congenital hyperekplexia: five sporadic cases.
    Rivera S, Villega F, de Saint-Martin A, Matis J, Escande B, Chaigne D, Astruc D.
    Eur J Pediatr; 2006 Feb 14; 165(2):104-7. PubMed ID: 16211400
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  • 36. Mutations in the glycine receptor alpha1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C.
    Kwok JB, Raskin S, Morgan G, Antoniuk SA, Bruk I, Schofield PR.
    J Med Genet; 2001 Jun 14; 38(6):E17. PubMed ID: 11389164
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  • 40. The effects of clonazepam and vigabatrin in hyperekplexia.
    Tijssen MA, Schoemaker HC, Edelbroek PJ, Roos RA, Cohen AF, van Dijk JG.
    J Neurol Sci; 1997 Jul 14; 149(1):63-7. PubMed ID: 9168167
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