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Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF. Pfeffer G, et al. Among authors: mccarthy a. Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10. Brain. 2014. PMID: 24727571 Free PMC article.
Closing the tau loop: the missing tau mutation.
McCarthy A, Lonergan R, Olszewska DA, O'Dowd S, Cummins G, Magennis B, Fallon EM, Pender N, Huey ED, Cosentino S, O'Rourke K, Kelly BD, O'Connell M, Delon I, Farrell M, Spillantini MG, Rowland LP, Fahn S, Craig P, Hutton M, Lynch T. McCarthy A, et al. Brain. 2015 Oct;138(Pt 10):3100-9. doi: 10.1093/brain/awv234. Epub 2015 Aug 21. Brain. 2015. PMID: 26297556 Free PMC article.
On the Emergence of Tremor in Prodromal Parkinson's Disease.
Fearon C, Lees AJ, McKinley JJ, McCarthy A, Smyth S, Farrell M, Lynch T. Fearon C, et al. Among authors: mccarthy a. J Parkinsons Dis. 2021;11(1):261-269. doi: 10.3233/JPD-202322. J Parkinsons Dis. 2021. PMID: 33325397 Free article.
Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.
Ogaki K, Koga S, Heckman MG, Fiesel FC, Ando M, Labbé C, Lorenzo-Betancor O, Moussaud-Lamodière EL, Soto-Ortolaza AI, Walton RL, Strongosky AJ, Uitti RJ, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Puschmann A, Nishioka K, Funayama M, Hattori N, Parisi JE, Petersen RC, Graff-Radford NR, Boeve BF, Springer W, Wszolek ZK, Dickson DW, Ross OA. Ogaki K, et al. Among authors: mccarthy a. Neurology. 2015 Dec 8;85(23):2016-25. doi: 10.1212/WNL.0000000000002170. Epub 2015 Nov 11. Neurology. 2015. PMID: 26561290 Free PMC article.
Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.
Labbé C, Ogaki K, Lorenzo-Betancor O, Soto-Ortolaza AI, Walton RL, Rayaprolu S, Fujioka S, Murray ME, Heckman MG, Puschmann A, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Sanotsky Y, Rektorová I, McLean PJ, Rademakers R, Ertekin-Taner N, Hassan A, Ahlskog JE, Boeve BF, Petersen RC, Maraganore DM, Adler CH, Ferman TJ, Parisi JE, Graff-Radford NR, Uitti RJ, Wszolek ZK, Dickson DW, Ross OA. Labbé C, et al. Among authors: mccarthy a. Neurology. 2015 Nov 10;85(19):1680-6. doi: 10.1212/WNL.0000000000001946. Epub 2015 Sep 2. Neurology. 2015. PMID: 26333800 Free PMC article.
Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson's Disease Locus.
Labbé C, Ogaki K, Lorenzo-Betancor O, Carrasquillo MM, Heckman MG, McCarthy A, Soto-Ortolaza AI, Walton RL, Lynch T, Siuda J, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Dickson DW, Uitti RJ, Wszolek ZK, Ross OA. Labbé C, et al. Among authors: mccarthy a. PLoS One. 2015 Jun 19;10(6):e0128586. doi: 10.1371/journal.pone.0128586. eCollection 2015. PLoS One. 2015. PMID: 26090850 Free PMC article.
1,578 results