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An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD.
Bauer CS, Cohen RN, Sironi F, Livesey MR, Gillingwater TH, Highley JR, Fillingham DJ, Coldicott I, Smith EF, Gibson YB, Webster CP, Grierson AJ, Bendotti C, De Vos KJ. Bauer CS, et al. Among authors: highley jr. Acta Neuropathol. 2022 Sep;144(3):437-464. doi: 10.1007/s00401-022-02470-z. Epub 2022 Jul 25. Acta Neuropathol. 2022. PMID: 35876881 Free PMC article.
Combined fused in sarcoma-positive (FUS+) basophilic inclusion body disease and atypical tauopathy presenting with an amyotrophic lateral sclerosis/motor neurone disease (ALS/MND)-plus phenotype.
Wharton SB, Verber NS, Wagner BE, Highley JR, Fillingham DJ, Waller R, Strand K, Ince PG, Shaw PJ. Wharton SB, et al. Among authors: highley jr. Neuropathol Appl Neurobiol. 2019 Oct;45(6):586-596. doi: 10.1111/nan.12542. Epub 2019 Feb 19. Neuropathol Appl Neurobiol. 2019. PMID: 30659642 Free article.
A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis.
Cooper-Knock J, Green C, Altschuler G, Wei W, Bury JJ, Heath PR, Wyles M, Gelsthorpe C, Highley JR, Lorente-Pons A, Beck T, Doyle K, Otero K, Traynor B, Kirby J, Shaw PJ, Hide W. Cooper-Knock J, et al. Among authors: highley jr. Acta Neuropathol Commun. 2017 Mar 16;5(1):23. doi: 10.1186/s40478-017-0424-x. Acta Neuropathol Commun. 2017. PMID: 28302159 Free PMC article.
C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.
Cooper-Knock J, Frolov A, Highley JR, Charlesworth G, Kirby J, Milano A, Hartley J, Ince PG, McDermott CJ, Lashley T, Revesz T, Shaw PJ, Wood NW, Bandmann O. Cooper-Knock J, et al. Among authors: highley jr. Neurology. 2013 Aug 27;81(9):808-11. doi: 10.1212/WNL.0b013e3182a2cc38. Epub 2013 Jul 24. Neurology. 2013. PMID: 23884045 Free PMC article.
Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy.
Boyd PJ, Tu WY, Shorrock HK, Groen EJN, Carter RN, Powis RA, Thomson SR, Thomson D, Graham LC, Motyl AAL, Wishart TM, Highley JR, Morton NM, Becker T, Becker CG, Heath PR, Gillingwater TH. Boyd PJ, et al. Among authors: highley jr. PLoS Genet. 2017 Apr 20;13(4):e1006744. doi: 10.1371/journal.pgen.1006744. eCollection 2017 Apr. PLoS Genet. 2017. PMID: 28426667 Free PMC article.
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.
Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C, Baxter L, Forster G, Fox M, Bury J, Mok K, McDermott CJ, Traynor BJ, Kirby J, Wharton SB, Ince PG, Hardy J, Shaw PJ. Cooper-Knock J, et al. Among authors: highley jr. Brain. 2012 Mar;135(Pt 3):751-64. doi: 10.1093/brain/awr365. Brain. 2012. PMID: 22366792 Free PMC article.
TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.
Gallagher MD, Suh E, Grossman M, Elman L, McCluskey L, Van Swieten JC, Al-Sarraj S, Neumann M, Gelpi E, Ghetti B, Rohrer JD, Halliday G, Van Broeckhoven C, Seilhean D, Shaw PJ, Frosch MP, Alafuzoff I, Antonell A, Bogdanovic N, Brooks W, Cairns NJ, Cooper-Knock J, Cotman C, Cras P, Cruts M, De Deyn PP, DeCarli C, Dobson-Stone C, Engelborghs S, Fox N, Galasko D, Gearing M, Gijselinck I, Grafman J, Hartikainen P, Hatanpaa KJ, Highley JR, Hodges J, Hulette C, Ince PG, Jin LW, Kirby J, Kofler J, Kril J, Kwok JB, Levey A, Lieberman A, Llado A, Martin JJ, Masliah E, McDermott CJ, McKee A, McLean C, Mead S, Miller CA, Miller J, Munoz DG, Murrell J, Paulson H, Piguet O, Rossor M, Sanchez-Valle R, Sano M, Schneider J, Silbert LC, Spina S, van der Zee J, Van Langenhove T, Warren J, Wharton SB, White CL 3rd, Woltjer RL, Trojanowski JQ, Lee VM, Van Deerlin V, Chen-Plotkin AS. Gallagher MD, et al. Among authors: highley jr. Acta Neuropathol. 2014 Mar;127(3):407-18. doi: 10.1007/s00401-013-1239-x. Epub 2014 Jan 19. Acta Neuropathol. 2014. PMID: 24442578 Free PMC article.
57 results