These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

88 related articles for article (PubMed ID: 17536053)

  • 1. Hyperekplexia caused by dominant-negative suppression of glyra1 function.
    Bellini G; Miceli F; Mangano S; Miraglia del Giudice E; Coppola G; Barbagallo A; Taglialatela M; Pascotto A
    Neurology; 2007 May; 68(22):1947-9. PubMed ID: 17536053
    [No Abstract]   [Full Text] [Related]  

  • 2. 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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The role of glycine and glycine receptors in myoclonus and startle syndromes.
    Schofield PR
    Adv Neurol; 2002; 89():263-74. PubMed ID: 11968453
    [No Abstract]   [Full Text] [Related]  

  • 6. A novel GLRA1 mutation in a recessive hyperekplexia pedigree.
    Forsyth RJ; Gika AD; Ginjaar I; Tijssen MA
    Mov Disord; 2007 Aug; 22(11):1643-5. PubMed ID: 17534957
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 125(12):1877-1883. PubMed ID: 30182260
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 28(4):228-31. PubMed ID: 16478653
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular mechanisms of inherited startle syndromes.
    Rajendra S; Schofield PR
    Trends Neurosci; 1995 Feb; 18(2):80-2. PubMed ID: 7537418
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 58(2):420-2. PubMed ID: 8571969
    [No Abstract]   [Full Text] [Related]  

  • 13. [Molecular bases of hereditary hyperekplexia].
    Giménez C; Zafra F; López-Corcuera B; Aragón C
    Rev Neurol; 2008 Dec 16-31; 47(12):648-52. PubMed ID: 19085882
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hyperekplexia: a syndrome of pathological startle responses.
    Sáenz-Lope E; Herranz-Tanarro FJ; Masdeu JC; Chacón Peña JR
    Ann Neurol; 1984 Jan; 15(1):36-41. PubMed ID: 6424556
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Statistical coassembly of glycine receptor alpha1 wildtype and the hyperekplexia mutant alpha1(P250T) in HEK 293 cells: impaired channel function is not dominant in the recombinant system.
    Breitinger HG; Becker CM
    Neurosci Lett; 2002 Oct; 331(1):21-4. PubMed ID: 12359314
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Excessive startle syndromes: startle disease, jumping, and startle epilepsy.
    Andermann F; Andermann E
    Adv Neurol; 1986; 43():321-38. PubMed ID: 3511629
    [No Abstract]   [Full Text] [Related]  

  • 17. Startle and its disorders.
    Meinck HM
    Neurophysiol Clin; 2006; 36(5-6):357-64. PubMed ID: 17336782
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 348(2):400-5. PubMed ID: 16884688
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Startle disease].
    Okino S; Yamada M
    Ryoikibetsu Shokogun Shirizu; 2002; (37 Pt 6):403-5. PubMed ID: 12483911
    [No Abstract]   [Full Text] [Related]  

  • 20. Glycine receptors: a startling connection.
    Floeter MK; Hallett M
    Nat Genet; 1993 Dec; 5(4):319-20. PubMed ID: 8298635
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 5.