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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: lynch jw. 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
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: lynch jw. J Neurosci. 2010 Jul 14;30(28):9612-20. doi: 10.1523/JNEUROSCI.1763-10.2010. J Neurosci. 2010. PMID: 20631190 Free PMC article.
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
Bode A, Wood SE, Mullins JGL, Keramidas A, Cushion TD, Thomas RH, Pickrell WO, Drew CJG, Masri A, Jones EA, Vassallo G, Born AP, Alehan F, Aharoni S, Bannasch G, Bartsch M, Kara B, Krause A, Karam EG, Matta S, Jain V, Mandel H, Freilinger M, Graham GE, Hobson E, Chatfield S, Vincent-Delorme C, Rahme JE, Afawi Z, Berkovic SF, Howell OW, Vanbellinghen JF, Rees MI, Chung SK, Lynch JW. Bode A, et al. Among authors: lynch jw. J Biol Chem. 2013 Nov 22;288(47):33745-33759. doi: 10.1074/jbc.M113.509240. Epub 2013 Oct 9. J Biol Chem. 2013. PMID: 24108130 Free PMC article. Clinical Trial.
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: lynch jw. 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.
346 results