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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. 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.
Bile acid biosynthesis in Smith-Lemli-Opitz syndrome bypassing cholesterol: Potential importance of pathway intermediates.
Abdel-Khalik J, Hearn T, Dickson AL, Crick PJ, Yutuc E, Austin-Muttitt K, Bigger BW, Morris AA, Shackleton CH, Clayton PT, Iida T, Sircar R, Rohatgi R, Marschall HU, Sjövall J, Björkhem I, Mullins JGL, Griffiths WJ, Wang Y. Abdel-Khalik J, et al. Among authors: mullins jgl. J Steroid Biochem Mol Biol. 2021 Feb;206:105794. doi: 10.1016/j.jsbmb.2020.105794. Epub 2020 Nov 24. J Steroid Biochem Mol Biol. 2021. PMID: 33246156 Free PMC article.
Resistance to antifungals that target CYP51.
Parker JE, Warrilow AG, Price CL, Mullins JG, Kelly DE, Kelly SL. Parker JE, et al. J Chem Biol. 2014 Aug 27;7(4):143-61. doi: 10.1007/s12154-014-0121-1. eCollection 2014 Oct. J Chem Biol. 2014. PMID: 25320648 Free PMC article. Review.
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, Giuliano F, Kerr MP, Banne E, Meiner V, Lerman-Sagie T, Helbig KL, Kofman LH, Knight KM, Chen W, Kannan V, Hu C, Kusumoto H, Zhang J, Swanger SA, Shaulsky GH, Mirzaa GM, Muir AM, Mefford HC, Dobyns WB, Mackenzie AB, Mullins JGL, Lemke JR, Bahi-Buisson N, Traynelis SF, Iago HF, Pilz DT. Fry AE, et al. Among authors: mullins jgl. Brain. 2018 Mar 1;141(3):698-712. doi: 10.1093/brain/awx358. Brain. 2018. PMID: 29365063 Free PMC article.
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
Johnston AJ, Kang JQ, Shen W, Pickrell WO, Cushion TD, Davies JS, Baer K, Mullins JGL, Hammond CL, Chung SK, Thomas RH, White C, Smith PEM, Macdonald RL, Rees MI. Johnston AJ, et al. Among authors: mullins jgl. Neurobiol Dis. 2014 Apr;64:131-141. doi: 10.1016/j.nbd.2013.12.013. Epub 2014 Jan 7. Neurobiol Dis. 2014. PMID: 24407264 Free PMC article.
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. Brain. 2013 Feb;136(Pt 2):536-48. doi: 10.1093/brain/aws338. Epub 2013 Jan 29. Brain. 2013. PMID: 23361065
42 results