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CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
Dobson-Stone C, Hallupp M, Shahheydari H, Ragagnin AMG, Chatterton Z, Carew-Jones F, Shepherd CE, Stefen H, Paric E, Fath T, Thompson EM, Blumbergs P, Short CL, Field CD, Panegyres PK, Hecker J, Nicholson G, Shaw AD, Fullerton JM, Luty AA, Schofield PR, Brooks WS, Rajan N, Bennett MF, Bahlo M, Landers JE, Piguet O, Hodges JR, Halliday GM, Topp SD, Smith BN, Shaw CE, McCann E, Fifita JA, Williams KL, Atkin JD, Blair IP, Kwok JB. Dobson-Stone C, et al. Among authors: thompson em. Brain. 2020 Mar 1;143(3):783-799. doi: 10.1093/brain/awaa039. Brain. 2020. PMID: 32185393 Free PMC article.
The causes of sporadic and 'senile' chorea.
Warren JD, Firgaira F, Thompson EM, Kneebone CS, Blumbergs PC, Thompson PD. Warren JD, et al. Among authors: thompson pd, thompson em. Aust N Z J Med. 1998 Aug;28(4):429-31. doi: 10.1111/j.1445-5994.1998.tb02075.x. Aust N Z J Med. 1998. PMID: 9777108
Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis.
Dobson-Stone C, Luty AA, Thompson EM, Blumbergs P, Brooks WS, Short CL, Field CD, Panegyres PK, Hecker J, Solski JA, Blair IP, Fullerton JM, Halliday GM, Schofield PR, Kwok JB. Dobson-Stone C, et al. Among authors: thompson em. Acta Neuropathol. 2013 Apr;125(4):523-33. doi: 10.1007/s00401-013-1078-9. Epub 2013 Jan 22. Acta Neuropathol. 2013. PMID: 23338750 Free PMC article.
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients.
Dobson-Stone C, Hallupp M, Loy CT, Thompson EM, Haan E, Sue CM, Panegyres PK, Razquin C, Seijo-Martínez M, Rene R, Gascon J, Campdelacreu J, Schmoll B, Volk AE, Brooks WS, Schofield PR, Pastor P, Kwok JB. Dobson-Stone C, et al. Among authors: thompson em. PLoS One. 2013;8(2):e56899. doi: 10.1371/journal.pone.0056899. Epub 2013 Feb 20. PLoS One. 2013. PMID: 23437264 Free PMC article.
Frontotemporal dementia and its subtypes: a genome-wide association study.
Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, Hernández I, Ruiz A, Boada M, Borroni B, Padovani A, Cruchaga C, Cairns NJ, Benussi L, Binetti G, Ghidoni R, Forloni G, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Waldö ML, Nilsson K, Nilsson C, Mackenzie IR, Hsiung GY, Mann DM, Grafman J, Morris CM, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED, Wassermann EM, Baborie A, Jaros E, Tierney MC, Pastor P, Razquin C, Ortega-Cubero S, Alonso E, Perneczky R, Diehl-Schmid J, Alexopoulos P, Kurz A, Rainero I, Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F, Giaccone G, Rowe JB, Schlachetzki JC, Uphill J, Collinge J, Mead S, Danek A, Van Deerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Deschamps W, Van Langenhove T, Cruts M, Van Broeckhoven C, Cappa SF, Le Ber I, Hannequin D, Golfier V, Vercelletto M, Brice A, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pichler S, Gu W, Rossor MN, Fox NC, Warren JD, Sp… See abstract for full author list ➔ Ferrari R, et al. Among authors: thompson e. Lancet Neurol. 2014 Jul;13(7):686-99. doi: 10.1016/S1474-4422(14)70065-1. Lancet Neurol. 2014. PMID: 24943344 Free PMC article.
Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.
Ferrari R, Wang Y, Vandrovcova J, Guelfi S, Witeolar A, Karch CM, Schork AJ, Fan CC, Brewer JB; International FTD-Genomics Consortium (IFGC),; International Parkinson's Disease Genomics Consortium (IPDGC),; International Genomics of Alzheimer's Project (IGAP),; Momeni P, Schellenberg GD, Dillon WP, Sugrue LP, Hess CP, Yokoyama JS, Bonham LW, Rabinovici GD, Miller BL, Andreassen OA, Dale AM, Hardy J, Desikan RS. Ferrari R, et al. J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):152-164. doi: 10.1136/jnnp-2016-314411. Epub 2016 Nov 29. J Neurol Neurosurg Psychiatry. 2017. PMID: 27899424 Free PMC article.
Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.
Broce I, Karch CM, Wen N, Fan CC, Wang Y, Tan CH, Kouri N, Ross OA, Höglinger GU, Muller U, Hardy J; International FTD-Genomics Consortium; Momeni P, Hess CP, Dillon WP, Miller ZA, Bonham LW, Rabinovici GD, Rosen HJ, Schellenberg GD, Franke A, Karlsen TH, Veldink JH, Ferrari R, Yokoyama JS, Miller BL, Andreassen OA, Dale AM, Desikan RS, Sugrue LP. Broce I, et al. PLoS Med. 2018 Jan 9;15(1):e1002487. doi: 10.1371/journal.pmed.1002487. eCollection 2018 Jan. PLoS Med. 2018. PMID: 29315334 Free PMC article.
315 results