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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. Brain. 2020 Mar 1;143(3):783-799. doi: 10.1093/brain/awaa039. Brain. 2020. PMID: 32185393 Free PMC article.
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. 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.
Consensus neuropathological diagnosis of common dementia syndromes: testing and standardising the use of multiple diagnostic criteria.
Halliday G, Ng T, Rodriguez M, Harding A, Blumbergs P, Evans W, Fabian V, Fryer J, Gonzales M, Harper C, Kalnins R, Masters CL, McLean C, Milder DG, Pamphlett R, Scott G, Tannenberg A, Kril J. Halliday G, et al. Acta Neuropathol. 2002 Jul;104(1):72-8. doi: 10.1007/s00401-002-0529-5. Epub 2002 Mar 22. Acta Neuropathol. 2002. PMID: 12070667
Identical twins with Alzheimer's disease.
Kilpatrick C, Burns R, Blumbergs PC. Kilpatrick C, et al. Among authors: blumbergs pc. J Neurol Neurosurg Psychiatry. 1983 May;46(5):421-5. doi: 10.1136/jnnp.46.5.421. J Neurol Neurosurg Psychiatry. 1983. PMID: 6101177 Free PMC article.
241 results