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High prevalence of focal and multi-focal somatic genetic variants in the human brain.
Keogh MJ, Wei W, Aryaman J, Walker L, van den Ameele J, Coxhead J, Wilson I, Bashton M, Beck J, West J, Chen R, Haudenschild C, Bartha G, Luo S, Morris CM, Jones NS, Attems J, Chinnery PF. Keogh MJ, et al. Nat Commun. 2018 Oct 15;9(1):4257. doi: 10.1038/s41467-018-06331-w. Nat Commun. 2018. PMID: 30323172 Free PMC article.
Neuroferritinopathy: a new inborn error of iron metabolism.
Keogh MJ, Jonas P, Coulthard A, Chinnery PF, Burn J. Keogh MJ, et al. Neurogenetics. 2012 Feb;13(1):93-6. doi: 10.1007/s10048-011-0310-9. Epub 2012 Jan 26. Neurogenetics. 2012. PMID: 22278127 Free PMC article.
Early neuropsychiatry features in neuroferritinopathy.
Keogh MJ, Singh B, Chinnery PF. Keogh MJ, et al. Mov Disord. 2013 Aug;28(9):1310-3. doi: 10.1002/mds.25371. Epub 2013 Feb 23. Mov Disord. 2013. PMID: 23436236 No abstract available.
How to spot mitochondrial disease in adults.
Keogh MJ, Chinnery PF. Keogh MJ, et al. Clin Med (Lond). 2013 Feb;13(1):87-92. doi: 10.7861/clinmedicine.13-1-87. Clin Med (Lond). 2013. PMID: 23472503 Free PMC article. Review. No abstract available.
Exome sequencing: how to understand it.
Keogh MJ, Daud D, Chinnery PF. Keogh MJ, et al. Pract Neurol. 2013 Dec;13(6):399-407. doi: 10.1136/practneurol-2012-000498. Epub 2013 Jun 1. Pract Neurol. 2013. PMID: 23727621 Review. No abstract available.
Neuroferritinopathy.
Keogh MJ, Morris CM, Chinnery PF. Keogh MJ, et al. Int Rev Neurobiol. 2013;110:91-123. doi: 10.1016/B978-0-12-410502-7.00006-5. Int Rev Neurobiol. 2013. PMID: 24209436 Review.
69 results