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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: 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.
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
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.
Next generation sequencing methodologies--an overview.
Pickrell WO, Rees MI, Chung SK. Pickrell WO, et al. Among authors: rees mi. Adv Protein Chem Struct Biol. 2012;89:1-26. doi: 10.1016/B978-0-12-394287-6.00001-X. Adv Protein Chem Struct Biol. 2012. PMID: 23046880 Review.
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Cushion TD, Dobyns WB, Mullins JG, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI, Pilz DT. Cushion TD, et al. Among authors: rees mi. Brain. 2013 Feb;136(Pt 2):536-48. doi: 10.1093/brain/aws338. Epub 2013 Jan 29. Brain. 2013. PMID: 23361065
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: rees mi. 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.
Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.
Hmami F, Wood SE, Chaouki S, Oulmaati A, Hida M, Rees MI, Chung SK, Bouharrou A. Hmami F, et al. Among authors: rees mi. Epileptic Disord. 2014 Sep;16(3):354-7. doi: 10.1684/epd.2014.0663. Epileptic Disord. 2014. PMID: 25036534 Free article.
123 results