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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: rees mi. 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.
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: rees mi. 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.
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: rees mi. J Neurosci. 2010 Jul 14;30(28):9612-20. doi: 10.1523/JNEUROSCI.1763-10.2010. J Neurosci. 2010. PMID: 20631190 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. 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: rees mi. 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.
GLRB is the third major gene of effect in hyperekplexia.
Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI. Chung SK, et al. Among authors: rees mi. Hum Mol Genet. 2013 Mar 1;22(5):927-40. doi: 10.1093/hmg/dds498. Epub 2012 Nov 25. Hum Mol Genet. 2013. PMID: 23184146
Ethnicity can predict GLRA1 genotypes in hyperekplexia.
Thomas RH, Drew CJ, Wood SE, Hammond CL, Chung SK, Rees MI. Thomas RH, et al. Among authors: rees mi. J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):341-3. doi: 10.1136/jnnp-2014-307903. Epub 2014 Jun 26. J Neurol Neurosurg Psychiatry. 2015. PMID: 24970905
120 results