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Page 1
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. Chung SK, et al. Among authors: harvey k, harvey rj. J Neurosci. 2010 Jul 14;30(28):9612-20. doi: 10.1523/JNEUROSCI.1763-10.2010. J Neurosci. 2010. PMID: 20631190 Free PMC article.
The glycinergic system in human startle disease: a genetic screening approach.
Davies JS, Chung SK, Thomas RH, Robinson A, Hammond CL, Mullins JG, Carta E, Pearce BR, Harvey K, Harvey RJ, Rees MI. Davies JS, et al. Among authors: harvey k, harvey rj. Front Mol Neurosci. 2010 Mar 23;3:8. doi: 10.3389/fnmol.2010.00008. eCollection 2010. Front Mol Neurosci. 2010. PMID: 20407582 Free PMC article.
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.
James VM, Bode A, Chung SK, Gill JL, Nielsen M, Cowan FM, Vujic M, Thomas RH, Rees MI, Harvey K, Keramidas A, Topf M, Ginjaar I, Lynch JW, Harvey RJ. James VM, et al. Among authors: harvey k, harvey rj. Neurobiol Dis. 2013 Apr;52:137-49. doi: 10.1016/j.nbd.2012.12.001. Epub 2012 Dec 10. Neurobiol Dis. 2013. PMID: 23238346 Free PMC article.
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ. Rees MI, et al. Among authors: harvey k, harvey rj. Nat Genet. 2006 Jul;38(7):801-6. doi: 10.1038/ng1814. Epub 2006 Jun 4. Nat Genet. 2006. PMID: 16751771 Free PMC article.
The genetics of hyperekplexia: more than startle!
Harvey RJ, Topf M, Harvey K, Rees MI. Harvey RJ, et al. Among authors: harvey k. Trends Genet. 2008 Sep;24(9):439-47. doi: 10.1016/j.tig.2008.06.005. Epub 2008 Aug 15. Trends Genet. 2008. PMID: 18707791 Review.
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
Carta E, Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, Rivera S, Scalais E, Shiang R, Sinclair K, Stuart CA, Tijssen MA, Wise G, Zuberi SM, Harvey K, Pearce BR, Topf M, Thomas RH, Supplisson S, Rees MI, Harvey RJ. Carta E, et al. Among authors: harvey k, harvey rj. J Biol Chem. 2012 Aug 17;287(34):28975-85. doi: 10.1074/jbc.M112.372094. Epub 2012 Jun 14. J Biol Chem. 2012. PMID: 22700964 Free PMC article. Clinical Trial.
A critical role for glycine transporters in hyperexcitability disorders.
Harvey RJ, Carta E, Pearce BR, Chung SK, Supplisson S, Rees MI, Harvey K. Harvey RJ, et al. Among authors: harvey k. Front Mol Neurosci. 2008 Mar 28;1:1. doi: 10.3389/neuro.02.001.2008. eCollection 2008. Front Mol Neurosci. 2008. PMID: 18946534 Free PMC article.
Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome.
Aboheimed GI, AlRasheed MM, Almudimeegh S, Peña-Guerra KA, Cardona-Londoño KJ, Salih MA, Seidahmed MZ, Al-Mohanna F, Colak D, Harvey RJ, Harvey K, Arold ST, Kaya N, Ruiz AJ. Aboheimed GI, et al. Among authors: harvey k, harvey rj. J Biol Chem. 2022 Jul;298(7):102018. doi: 10.1016/j.jbc.2022.102018. Epub 2022 May 6. J Biol Chem. 2022. PMID: 35526563 Free PMC article.
760 results