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Page 1
Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.
O'Connor A, Pannee J, Poole T, Arber C, Portelius E, Swift IJ, Heslegrave AJ, Abel E, Willumsen N, Rice H, Weston PSJ, Ryan NS, Polke JM, Nicholas JM, Mead S, Wray S, Chávez-Gutiérrez L, Frost C, Blennow K, Zetterberg H, Fox NC. O'Connor A, et al. Among authors: polke jm. Brain. 2021 Nov 29;144(10):2964-2970. doi: 10.1093/brain/awab166. Brain. 2021. PMID: 33892504 Free PMC article.
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.
Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S. Beck J, et al. Among authors: polke jm. Am J Hum Genet. 2013 Mar 7;92(3):345-53. doi: 10.1016/j.ajhg.2013.01.011. Epub 2013 Feb 21. Am J Hum Genet. 2013. PMID: 23434116 Free PMC article.
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.
Fratta P, Poulter M, Lashley T, Rohrer JD, Polke JM, Beck J, Ryan N, Hensman D, Mizielinska S, Waite AJ, Lai MC, Gendron TF, Petrucelli L, Fisher EM, Revesz T, Warren JD, Collinge J, Isaacs AM, Mead S. Fratta P, et al. Among authors: polke jm. Acta Neuropathol. 2013 Sep;126(3):401-9. doi: 10.1007/s00401-013-1147-0. Epub 2013 Jul 2. Acta Neuropathol. 2013. PMID: 23818065 Free PMC article.
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.
Hensman Moss DJ, Poulter M, Beck J, Hehir J, Polke JM, Campbell T, Adamson G, Mudanohwo E, McColgan P, Haworth A, Wild EJ, Sweeney MG, Houlden H, Mead S, Tabrizi SJ. Hensman Moss DJ, et al. Among authors: polke jm. Neurology. 2014 Jan 28;82(4):292-9. doi: 10.1212/WNL.0000000000000061. Epub 2013 Dec 20. Neurology. 2014. PMID: 24363131 Free PMC article.
Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion.
Fratta P, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, Beck J, Preza E, Devoy A, Sidle K, Howard R, Malaspina A, Orrell RW, Clarke J, Lu CH, Mok K, Collins T, Shoaii M, Nanji T, Wray S, Adamson G, Pittman A, Renton AE, Traynor BJ, Sweeney MG, Revesz T, Houlden H, Mead S, Isaacs AM, Fisher EM. Fratta P, et al. Among authors: polke jm. Neurobiol Aging. 2015 Jan;36(1):546.e1-7. doi: 10.1016/j.neurobiolaging.2014.07.037. Epub 2014 Aug 1. Neurobiol Aging. 2015. PMID: 25179228 Free PMC article.
G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo.
Simone R, Balendra R, Moens TG, Preza E, Wilson KM, Heslegrave A, Woodling NS, Niccoli T, Gilbert-Jaramillo J, Abdelkarim S, Clayton EL, Clarke M, Konrad MT, Nicoll AJ, Mitchell JS, Calvo A, Chio A, Houlden H, Polke JM, Ismail MA, Stephens CE, Vo T, Farahat AA, Wilson WD, Boykin DW, Zetterberg H, Partridge L, Wray S, Parkinson G, Neidle S, Patani R, Fratta P, Isaacs AM. Simone R, et al. Among authors: polke jm. EMBO Mol Med. 2018 Jan;10(1):22-31. doi: 10.15252/emmm.201707850. EMBO Mol Med. 2018. PMID: 29113975 Free PMC article.
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
Koriath C, Kenny J, Adamson G, Druyeh R, Taylor W, Beck J, Quinn L, Mok TH, Dimitriadis A, Norsworthy P, Bass N, Carter J, Walker Z, Kipps C, Coulthard E, Polke JM, Bernal-Quiros M, Denning N, Thomas R, Raybould R, Williams J, Mummery CJ, Wild EJ, Houlden H, Tabrizi SJ, Rossor MN, Hummerich H, Warren JD, Rowe JB, Rohrer JD, Schott JM, Fox NC, Collinge J, Mead S. Koriath C, et al. Among authors: polke jm. Mol Psychiatry. 2020 Dec;25(12):3399-3412. doi: 10.1038/s41380-018-0224-0. Epub 2018 Oct 2. Mol Psychiatry. 2020. PMID: 30279455 Free PMC article.
Plasma phospho-tau181 in presymptomatic and symptomatic familial Alzheimer's disease: a longitudinal cohort study.
O'Connor A, Karikari TK, Poole T, Ashton NJ, Lantero Rodriguez J, Khatun A, Swift I, Heslegrave AJ, Abel E, Chung E, Weston PSJ, Pavisic IM, Ryan NS, Barker S, Rossor MN, Polke JM, Frost C, Mead S, Blennow K, Zetterberg H, Fox NC. O'Connor A, et al. Among authors: polke jm. Mol Psychiatry. 2021 Oct;26(10):5967-5976. doi: 10.1038/s41380-020-0838-x. Epub 2020 Jul 14. Mol Psychiatry. 2021. PMID: 32665603 Free PMC article.
91 results