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The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.
Xi Z, Zhang M, Bruni AC, Maletta RG, Colao R, Fratta P, Polke JM, Sweeney MG, Mudanohwo E, Nacmias B, Sorbi S, Tartaglia MC, Rainero I, Rubino E, Pinessi L, Galimberti D, Surace EI, McGoldrick P, McKeever P, Moreno D, Sato C, Liang Y, Keith J, Zinman L, Robertson J, Rogaeva E. Xi Z, et al. Among authors: mcgoldrick p. Acta Neuropathol. 2015 May;129(5):715-27. doi: 10.1007/s00401-015-1401-8. Epub 2015 Feb 26. Acta Neuropathol. 2015. PMID: 25716178 Free article.
Jump from pre-mutation to pathologic expansion in C9orf72.
Xi Z, van Blitterswijk M, Zhang M, McGoldrick P, McLean JR, Yunusova Y, Knock E, Moreno D, Sato C, McKeever PM, Schneider R, Keith J, Petrescu N, Fraser P, Tartaglia MC, Baker MC, Graff-Radford NR, Boylan KB, Dickson DW, Mackenzie IR, Rademakers R, Robertson J, Zinman L, Rogaeva E. Xi Z, et al. Among authors: mcgoldrick p. Am J Hum Genet. 2015 Jun 4;96(6):962-70. doi: 10.1016/j.ajhg.2015.04.016. Epub 2015 May 21. Am J Hum Genet. 2015. PMID: 26004200 Free PMC article.
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.
Zhang M, Ferrari R, Tartaglia MC, Keith J, Surace EI, Wolf U, Sato C, Grinberg M, Liang Y, Xi Z, Dupont K, McGoldrick P, Weichert A, McKeever PM, Schneider R, McCorkindale MD, Manzoni C, Rademakers R, Graff-Radford NR, Dickson DW, Parisi JE, Boeve BF, Petersen RC, Miller BL, Seeley WW, van Swieten JC, van Rooij J, Pijnenburg Y, van der Zee J, Van Broeckhoven C, Le Ber I, Van Deerlin V, Suh E, Rohrer JD, Mead S, Graff C, Öijerstedt L, Pickering-Brown S, Rollinson S, Rossi G, Tagliavini F, Brooks WS, Dobson-Stone C, Halliday GM, Hodges JR, Piguet O, Binetti G, Benussi L, Ghidoni R, Nacmias B, Sorbi S, Bruni AC, Galimberti D, Scarpini E, Rainero I, Rubino E, Clarimon J, Lleó A, Ruiz A, Hernández I, Pastor P, Diez-Fairen M, Borroni B, Pasquier F, Deramecourt V, Lebouvier T, Perneczky R, Diehl-Schmid J, Grafman J, Huey ED, Mayeux R, Nalls MA, Hernandez D, Singleton A, Momeni P, Zeng Z, Hardy J, Robertson J, Zinman L, Rogaeva E; International FTD-Genomics Consortium (IFGC). Zhang M, et al. Among authors: mcgoldrick p. Brain. 2018 Oct 1;141(10):2895-2907. doi: 10.1093/brain/awy238. Brain. 2018. PMID: 30252044 Free PMC article.
Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis.
Keith JL, Swinkin E, Gao A, Alminawi S, Zhang M, McGoldrick P, McKeever P, Robertson J, Rogaeva E, Zinman L. Keith JL, et al. Among authors: mcgoldrick p. Neurol Genet. 2020 Jan 13;6(1):e394. doi: 10.1212/NXG.0000000000000394. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042922 Free PMC article.
DNA methylation age acceleration is associated with ALS age of onset and survival.
Zhang M, McKeever PM, Xi Z, Moreno D, Sato C, Bergsma T, McGoldrick P, Keith J, Robertson J, Zinman L, Rogaeva E. Zhang M, et al. Among authors: mcgoldrick p. Acta Neuropathol. 2020 May;139(5):943-946. doi: 10.1007/s00401-020-02131-z. Epub 2020 Mar 7. Acta Neuropathol. 2020. PMID: 32146547 Free PMC article. No abstract available.
Rodent models of amyotrophic lateral sclerosis.
McGoldrick P, Joyce PI, Fisher EM, Greensmith L. McGoldrick P, et al. Biochim Biophys Acta. 2013 Sep;1832(9):1421-36. doi: 10.1016/j.bbadis.2013.03.012. Epub 2013 Mar 21. Biochim Biophys Acta. 2013. PMID: 23524377 Free article. Review.
79 results