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Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants.
Staffaroni AM, Goh SM, Cobigo Y, Ong E, Lee SE, Casaletto KB, Wolf A, Forsberg LK, Ghoshal N, Graff-Radford NR, Grossman M, Heuer HW, Hsiung GR, Kantarci K, Knopman DS, Kremers WK, Mackenzie IR, Miller BL, Pedraza O, Rascovsky K, Tartaglia MC, Wszolek ZK, Kramer JH, Kornak J, Boeve BF, Boxer AL, Rosen HJ; ARTFL-LEFFTDS Longitudinal Frontotemporal Lobar Degeneration Consortium. Staffaroni AM, et al. JAMA Netw Open. 2020 Oct 1;3(10):e2022847. doi: 10.1001/jamanetworkopen.2020.22847. JAMA Netw Open. 2020. PMID: 33112398 Free PMC article.
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Pickering-Brown SM, Graff-Radford N, Uitti R, Dickson D, Wszolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL 3rd, Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R. Gass J, et al. Hum Mol Genet. 2006 Oct 15;15(20):2988-3001. doi: 10.1093/hmg/ddl241. Epub 2006 Sep 1. Hum Mol Genet. 2006. PMID: 16950801
801 results