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Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.
Rees MI, Harvey K, Ward H, White JH, Evans L, Duguid IC, Hsu CC, Coleman SL, Miller J, Baer K, Waldvogel HJ, Gibbon F, Smart TG, Owen MJ, Harvey RJ, Snell RG. Rees MI, et al. Among authors: owen mj. J Biol Chem. 2003 Jul 4;278(27):24688-96. doi: 10.1074/jbc.M301070200. Epub 2003 Apr 8. J Biol Chem. 2003. PMID: 12684523 Free 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: owen mj. Nat Genet. 2006 Jul;38(7):801-6. doi: 10.1038/ng1814. Epub 2006 Jun 4. Nat Genet. 2006. PMID: 16751771 Free PMC article.
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Fry AE, Rees E, Thompson R, Mantripragada K, Blake P, Jones G, Morgan S, Jose S, Mugalaasi H, Archer H, McCann E, Clarke A, Taylor C, Davies S, Gibbon F, Te Water Naude J, Hartley L, Thomas G, White C, Natarajan J, Thomas RH, Drew C, Chung SK, Rees MI, Holmans P, Owen MJ, Kirov G, Pilz DT, Kerr MP. Fry AE, et al. Among authors: owen mj. BMC Med Genet. 2016 Apr 26;17(1):34. doi: 10.1186/s12881-016-0294-2. BMC Med Genet. 2016. PMID: 27113213 Free PMC article.
Genetic variants influencing human aging from late-onset Alzheimer's disease (LOAD) genome-wide association studies (GWAS).
Shi H, Belbin O, Medway C, Brown K, Kalsheker N, Carrasquillo M, Proitsi P, Powell J, Lovestone S, Goate A, Younkin S, Passmore P; Genetic and Environmental Risk for Alzheimer's Disease Consortium; Morgan K; Alzheimer's Research UK Consortium. Shi H, et al. Neurobiol Aging. 2012 Aug;33(8):1849.e5-18. doi: 10.1016/j.neurobiolaging.2012.02.014. Epub 2012 Mar 23. Neurobiol Aging. 2012. PMID: 22445811 Free PMC article.
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.
Chen Z, Reynolds RH, Pardiñas AF, Gagliano Taliun SA, van Rheenen W, Lin K, Shatunov A, Gustavsson EK, Fogh I, Jones AR, Robberecht W, Corcia P, Chiò A, Shaw PJ, Morrison KE, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Silani V, Hardy JA, Houlden H, Owen MJ, Turner MR, Ryten M, Al-Chalabi A. Chen Z, et al. Among authors: owen mj. Neurobiol Dis. 2023 May;180:106082. doi: 10.1016/j.nbd.2023.106082. Epub 2023 Mar 15. Neurobiol Dis. 2023. PMID: 36925053 Free article.
Chromosome 22 deletion syndrome and schizophrenia.
Williams NM, O'Donovan MC, Owen MJ. Williams NM, et al. Among authors: owen mj. Int Rev Neurobiol. 2006;73:1-27. doi: 10.1016/S0074-7742(06)73001-X. Int Rev Neurobiol. 2006. PMID: 16737900 Review. No abstract available.
1,105 results