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C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population.
Abramycheva NY, Lysogorskaia EV, Stepanova MS, Zakharova MN, Kovrazhkina EA, Razinskaya OD, Smirnov AP, Maltsev AV, Ustyugov AA, Kukharsky MS, Khritankova IV, Bachurin SO, Cooper-Knock J, Buchman VL, Illarioshkin SN, Skvortsova VI, Ninkina N. Abramycheva NY, et al. Neurobiol Aging. 2015 Oct;36(10):2908.e5-9. doi: 10.1016/j.neurobiolaging.2015.07.004. Epub 2015 Jul 9. Neurobiol Aging. 2015. PMID: 26254955
A review of Mendelian randomization in amyotrophic lateral sclerosis.
Julian TH, Boddy S, Islam M, Kurz J, Whittaker KJ, Moll T, Harvey C, Zhang S, Snyder MP, McDermott C, Cooper-Knock J, Shaw PJ. Julian TH, et al. Brain. 2022 Apr 29;145(3):832-842. doi: 10.1093/brain/awab420. Brain. 2022. PMID: 34791088 Free PMC article. Review.
Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis.
Boddy S, Islam M, Moll T, Kurz J, Burrows D, McGown A, Bhargava A, Julian TH, Harvey C, Marshall JN, Hall BP, Allen SP, Kenna KP, Sanderson E, Zhang S, Ramesh T, Snyder MP, Shaw PJ, McDermott C, Cooper-Knock J. Boddy S, et al. Brain Commun. 2022 Mar 17;4(2):fcac069. doi: 10.1093/braincomms/fcac069. eCollection 2022. Brain Commun. 2022. PMID: 35441136 Free PMC article.
Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity.
Zhang S, Cooper-Knock J, Weimer AK, Shi M, Kozhaya L, Unutmaz D, Harvey C, Julian TH, Furini S, Frullanti E, Fava F, Renieri A, Gao P, Shen X, Timpanaro IS, Kenna KP, Baillie JK, Davis MM, Tsao PS, Snyder MP. Zhang S, et al. Cell Syst. 2022 Aug 17;13(8):598-614.e6. doi: 10.1016/j.cels.2022.05.007. Epub 2022 Jun 3. Cell Syst. 2022. PMID: 35690068 Free PMC article.
Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.
Cooper-Knock J, Julian TH, Feneberg E, Highley JR, Sidra M, Turner MR, Talbot K, Ansorge O, Allen SP, Moll T, Shelkovnikova T, Castelli L, Hautbergue GM, Hewitt C, Kirby J, Wharton SB, Mead RJ, Shaw PJ. Cooper-Knock J, et al. Brain Pathol. 2023 Jan;33(1):e13104. doi: 10.1111/bpa.13104. Epub 2022 Jul 24. Brain Pathol. 2023. PMID: 35871544 Free PMC article.
Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat.
Jones AR, Woollacott I, Shatunov A, Cooper-Knock J, Buchman V, Sproviero W, Smith B, Scott KM, Balendra R, Abel O, McGuffin P, Ellis CM, Shaw PJ, Morrison KE, Farmer A, Lewis CM, Leigh PN, Shaw CE, Powell JF, Al-Chalabi A. Jones AR, et al. Neurobiol Aging. 2013 Sep;34(9):2234.e1-7. doi: 10.1016/j.neurobiolaging.2013.03.003. Epub 2013 Apr 12. Neurobiol Aging. 2013. PMID: 23587638 Free PMC article.
Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.
Highley JR, Kirby J, Jansweijer JA, Webb PS, Hewamadduma CA, Heath PR, Higginbottom A, Raman R, Ferraiuolo L, Cooper-Knock J, McDermott CJ, Wharton SB, Shaw PJ, Ince PG. Highley JR, et al. Neuropathol Appl Neurobiol. 2014 Oct;40(6):670-85. doi: 10.1111/nan.12148. Neuropathol Appl Neurobiol. 2014. PMID: 24750229
90 results