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Page 1
Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.
Joyce PI, Fratta P, Landman AS, Mcgoldrick P, Wackerhage H, Groves M, Busam BS, Galino J, Corrochano S, Beskina OA, Esapa C, Ryder E, Carter S, Stewart M, Codner G, Hilton H, Teboul L, Tucker J, Lionikas A, Estabel J, Ramirez-Solis R, White JK, Brandner S, Plagnol V, Bennet DL, Abramov AY, Greensmith L, Fisher EM, Acevedo-Arozena A. Joyce PI, et al. Among authors: mcgoldrick p. Hum Mol Genet. 2016 Jan 15;25(2):291-307. doi: 10.1093/hmg/ddv471. Epub 2015 Nov 24. Hum Mol Genet. 2016. PMID: 26604141 Free PMC article.
A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity.
Joyce PI, Mcgoldrick P, Saccon RA, Weber W, Fratta P, West SJ, Zhu N, Carter S, Phatak V, Stewart M, Simon M, Kumar S, Heise I, Bros-Facer V, Dick J, Corrochano S, Stanford MJ, Luong TV, Nolan PM, Meyer T, Brandner S, Bennett DL, Ozdinler PH, Greensmith L, Fisher EM, Acevedo-Arozena A. Joyce PI, et al. Among authors: mcgoldrick p. Hum Mol Genet. 2015 Apr 1;24(7):1883-97. doi: 10.1093/hmg/ddu605. Epub 2014 Dec 2. Hum Mol Genet. 2015. PMID: 25468678 Free PMC article.
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.
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.
Corrochano S, Männikkö R, Joyce PI, McGoldrick P, Wettstein J, Lassi G, Raja Rayan DL, Blanco G, Quinn C, Liavas A, Lionikas A, Amior N, Dick J, Healy EG, Stewart M, Carter S, Hutchinson M, Bentley L, Fratta P, Cortese A, Cox R, Brown SD, Tucci V, Wackerhage H, Amato AA, Greensmith L, Koltzenburg M, Hanna MG, Acevedo-Arozena A. Corrochano S, et al. Among authors: mcgoldrick p. Brain. 2014 Dec;137(Pt 12):3171-85. doi: 10.1093/brain/awu292. Epub 2014 Oct 27. Brain. 2014. PMID: 25348630 Free PMC article.
Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion.
Mitchell JC, McGoldrick P, Vance C, Hortobagyi T, Sreedharan J, Rogelj B, Tudor EL, Smith BN, Klasen C, Miller CC, Cooper JD, Greensmith L, Shaw CE. Mitchell JC, et al. Among authors: mcgoldrick p. Acta Neuropathol. 2013 Feb;125(2):273-88. doi: 10.1007/s00401-012-1043-z. Epub 2012 Sep 9. Acta Neuropathol. 2013. PMID: 22961620 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.
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.
97 results