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69 results

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Page 1
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E; DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank); EADB (Alzheimer Disease European DNA biobank); IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium); IPDGC (The International Parkinson Disease Genomics Consortium); RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia); Netherlands Brain Bank (NBB); Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kaw… See abstract for full author list ➔ van der Lee SJ, et al. Among authors: keogh mj. Acta Neuropathol. 2019 Aug;138(2):237-250. doi: 10.1007/s00401-019-02026-8. Epub 2019 May 27. Acta Neuropathol. 2019. PMID: 31131421 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.
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