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 *

142 related articles for article (PubMed ID: 9350397)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 3. Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.
    Saul B; Kuner T; Sobetzko D; Brune W; Hanefeld F; Meinck HM; Becker CM
    J Neurosci; 1999 Feb; 19(3):869-77. PubMed ID: 9920650
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 3(12):2175-9. PubMed ID: 7881416
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder.
    Lapunzina P; Sánchez JM; Cabrera M; Moreno A; Delicado A; de Torres ML; Mori AM; Quero J; Lopez Pajares I
    Mol Diagn; 2003; 7(2):125-8. PubMed ID: 14580232
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

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

  • 8. Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family.
    Tsai CH; Chang FC; Su YC; Tsai FJ; Lu MK; Lee CC; Kuo CC; Yang YW; Lu CS
    Neurology; 2004 Sep; 63(5):893-6. PubMed ID: 15365143
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.
    Chung SK; Vanbellinghen JF; Mullins JG; Robinson A; Hantke J; Hammond CL; Gilbert DF; Freilinger M; Ryan M; Kruer MC; Masri A; Gurses C; Ferrie C; Harvey K; Shiang R; Christodoulou J; Andermann F; Andermann E; Thomas RH; Harvey RJ; Lynch JW; Rees MI
    J Neurosci; 2010 Jul; 30(28):9612-20. PubMed ID: 20631190
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hyperekplexia and the alpha1 subunit glycine receptor gene (GLRA1).
    Turecki G; Grand'Maison F; Lemieux B; Rouleau G
    Arch Neurol; 1996 Sep; 53(9):836-7. PubMed ID: 8815845
    [No Abstract]   [Full Text] [Related]  

  • 11. 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; 20(1):40. PubMed ID: 30866851
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 23(4):610-3. PubMed ID: 18175347
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.
    Ferraroli E; Perulli M; Veredice C; Contaldo I; Quintiliani M; Ricci M; Venezia I; Citrigno L; Qualtieri A; Spadafora P; Cavalcanti F; Battaglia DI
    Pediatr Neurol; 2022 Jul; 132():45-49. PubMed ID: 35636282
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Hyperekplexia -- a treatable neuropediatric disease].
    Freilinger M; Jalowetz S; Reiter E; Schubert MT; Seidl R
    Klin Padiatr; 2005; 217(4):220-1. PubMed ID: 16032547
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.