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721 results

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Page 1
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: chung sk. Nat Genet. 2006 Jul;38(7):801-6. doi: 10.1038/ng1814. Epub 2006 Jun 4. Nat Genet. 2006. PMID: 16751771 Free PMC article.
Brugada syndrome masquerading as febrile seizures.
Skinner JR, Chung SK, Nel CA, Shelling AN, Crawford JR, McKenzie N, Pinnock R, French JK, Rees MI. Skinner JR, et al. Among authors: chung sk. Pediatrics. 2007 May;119(5):e1206-11. doi: 10.1542/peds.2006-2628. Epub 2007 Apr 9. Pediatrics. 2007. PMID: 17420262
Long QT and Brugada syndrome gene mutations in New Zealand.
Chung SK, MacCormick JM, McCulley CH, Crawford J, Eddy CA, Mitchell EA, Shelling AN, French JK, Skinner JR, Rees MI. Chung SK, et al. Heart Rhythm. 2007 Oct;4(10):1306-14. doi: 10.1016/j.hrthm.2007.06.022. Epub 2007 Jul 14. Heart Rhythm. 2007. PMID: 17905336
Coinheritance of long QT syndrome and Kearns-Sayre syndrome.
Skinner JR, Yang T, Purvis D, Chung SK, Roden DM, Rees MI. Skinner JR, et al. Among authors: chung sk. Heart Rhythm. 2007 Dec;4(12):1568-72. doi: 10.1016/j.hrthm.2007.08.013. Epub 2007 Aug 15. Heart Rhythm. 2007. PMID: 17980675 No abstract available.
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: chung sk. 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.
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
Yang T, Chung SK, Zhang W, Mullins JG, McCulley CH, Crawford J, MacCormick J, Eddy CA, Shelling AN, French JK, Yang P, Skinner JR, Roden DM, Rees MI. Yang T, et al. Among authors: chung sk. Circ Arrhythm Electrophysiol. 2009 Aug;2(4):417-26. doi: 10.1161/CIRCEP.109.850149. Epub 2009 May 22. Circ Arrhythm Electrophysiol. 2009. PMID: 19808498 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: chung sk. 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.
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. J Neurosci. 2010 Jul 14;30(28):9612-20. doi: 10.1523/JNEUROSCI.1763-10.2010. J Neurosci. 2010. PMID: 20631190 Free PMC article.
721 results