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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2007 1
2009 1
2010 1
2011 3
2012 6
2013 6
2014 5
2015 7
2016 5
2017 3
2018 4
2019 4
2020 7
2021 8
2022 2
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53 results
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Page 1
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN). Pipis M, et al. Among authors: polke jm. Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. Brain. 2020. PMID: 33415332 Free PMC article.
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Horga A, Manole A, Mitchell AL, Bugiardini E, Hargreaves IP, Mowafi W, Bettencourt C, Blakely EL, He L, Polke JM, Woodward CE, Dalla Rosa I, Shah S, Pittman AM, Quinlivan R, Reilly MM, Taylor RW, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A, Houlden H. Horga A, et al. Among authors: polke jm. Mol Biol Rep. 2021 Mar;48(3):2093-2104. doi: 10.1007/s11033-021-06188-1. Epub 2021 Mar 19. Mol Biol Rep. 2021. PMID: 33742325
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.
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.
A novel presenilin 1 duplication mutation (Ile168dup) causing Alzheimer's disease associated with myoclonus, seizures and pyramidal features.
O'Connor A, Abel E, Fraser MR, Ryan NS, Jiménez DA, Koriath C, Chávez-Gutiérrez L, Ansorge O, Mummery CJ, Lashley T, Rossor MN, Polke JM, Mead S, Fox NC. O'Connor A, et al. Among authors: polke jm. Neurobiol Aging. 2021 Jul;103:137.e1-137.e5. doi: 10.1016/j.neurobiolaging.2021.01.032. Epub 2021 Feb 5. Neurobiol Aging. 2021. PMID: 33648786
A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene.
Olszewska DA, Fearon C, McGuigan C, McVeigh TP, Houlden H, Polke JM, Lawlor B, Coen R, Hutchinson M, Hutton M, Beausang A, Delon I, Brett F, Sevastou I, Seto-Salvia N, de Silva R, Lynch T. Olszewska DA, et al. Among authors: polke jm. Neurobiol Aging. 2021 Oct;106:343.e1-343.e8. doi: 10.1016/j.neurobiolaging.2021.05.010. Epub 2021 May 23. Neurobiol Aging. 2021. PMID: 34274155 Free article.
Severe cognitive impairment in a patient with CMT2A.
Tomaselli PJ, Kapoor M, Cortese A, Polke JM, Rossor AM, Reilly MM. Tomaselli PJ, et al. Among authors: polke jm. J Peripher Nerv Syst. 2018 Jun;23(2):147-148. doi: 10.1111/jns.12260. Epub 2018 Mar 26. J Peripher Nerv Syst. 2018. PMID: 29520876 No abstract available.
53 results