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Page 1
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.
Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M. Rademakers R, et al. Among authors: dickson d. Lancet Neurol. 2007 Oct;6(10):857-68. doi: 10.1016/S1474-4422(07)70221-1. Lancet Neurol. 2007. PMID: 17826340
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.
Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M. Baker M, et al. Among authors: dickson d. Nature. 2006 Aug 24;442(7105):916-9. doi: 10.1038/nature05016. Epub 2006 Jul 16. Nature. 2006. PMID: 16862116
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. Among authors: dickson d. 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
Temporal order of clinical and biomarker changes in familial frontotemporal dementia.
Staffaroni AM, Quintana M, Wendelberger B, Heuer HW, Russell LL, Cobigo Y, Wolf A, Goh SM, Petrucelli L, Gendron TF, Heller C, Clark AL, Taylor JC, Wise A, Ong E, Forsberg L, Brushaber D, Rojas JC, VandeVrede L, Ljubenkov P, Kramer J, Casaletto KB, Appleby B, Bordelon Y, Botha H, Dickerson BC, Domoto-Reilly K, Fields JA, Foroud T, Gavrilova R, Geschwind D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grossman M, Hall MGH, Hsiung GY, Huey ED, Irwin D, Jones DT, Kantarci K, Kaufer D, Knopman D, Kremers W, Lago AL, Lapid MI, Litvan I, Lucente D, Mackenzie IR, Mendez MF, Mester C, Miller BL, Onyike CU, Rademakers R, Ramanan VK, Ramos EM, Rao M, Rascovsky K, Rankin KP, Roberson ED, Savica R, Tartaglia MC, Weintraub S, Wong B, Cash DM, Bouzigues A, Swift IJ, Peakman G, Bocchetta M, Todd EG, Convery RS, Rowe JB, Borroni B, Galimberti D, Tiraboschi P, Masellis M, Finger E, van Swieten JC, Seelaar H, Jiskoot LC, Sorbi S, Butler CR, Graff C, Gerhard A, Langheinrich T, Laforce R, Sanchez-Valle R, de Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Le Ber I, Levin J, Danek A, Otto M, Pasquier F, Santana I, Kornak J, Boeve BF, Rosen HJ, Rohrer JD, Boxer AL; Frontotempor… See abstract for full author list ➔ Staffaroni AM, et al. Nat Med. 2022 Oct;28(10):2194-2206. doi: 10.1038/s41591-022-01942-9. Epub 2022 Sep 22. Nat Med. 2022. PMID: 36138153 Free PMC article.
Comprehensive cross-sectional and longitudinal analyses of plasma neurofilament light across FTD spectrum disorders.
Gendron TF, Heckman MG, White LJ, Veire AM, Pedraza O, Burch AR, Bozoki AC, Dickerson BC, Domoto-Reilly K, Foroud T, Forsberg LK, Galasko DR, Ghoshal N, Graff-Radford NR, Grossman M, Heuer HW, Huey ED, Hsiung GR, Irwin DJ, Kaufer DI, Leger GC, Litvan I, Masdeu JC, Mendez MF, Onyike CU, Pascual B, Ritter A, Roberson ED, Rojas JC, Tartaglia MC, Wszolek ZK, Rosen H, Boeve BF, Boxer AL; ALLFTD consortium; Petrucelli L. Gendron TF, et al. Cell Rep Med. 2022 Apr 19;3(4):100607. doi: 10.1016/j.xcrm.2022.100607. eCollection 2022 Apr 19. Cell Rep Med. 2022. PMID: 35492244 Free PMC article.
The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy.
Hogg M, Grujic ZM, Baker M, Demirci S, Guillozet AL, Sweet AP, Herzog LL, Weintraub S, Mesulam MM, LaPointe NE, Gamblin TC, Berry RW, Binder LI, de Silva R, Lees A, Espinoza M, Davies P, Grover A, Sahara N, Ishizawa T, Dickson D, Yen SH, Hutton M, Bigio EH. Hogg M, et al. Among authors: dickson d. Acta Neuropathol. 2003 Oct;106(4):323-36. doi: 10.1007/s00401-003-0734-x. Epub 2003 Jul 19. Acta Neuropathol. 2003. PMID: 12883828
An immunohistochemical study of cases of sporadic and inherited frontotemporal lobar degeneration using 3R- and 4R-specific tau monoclonal antibodies.
de Silva R, Lashley T, Strand C, Shiarli AM, Shi J, Tian J, Bailey KL, Davies P, Bigio EH, Arima K, Iseki E, Murayama S, Kretzschmar H, Neumann M, Lippa C, Halliday G, MacKenzie J, Ravid R, Dickson D, Wszolek Z, Iwatsubo T, Pickering-Brown SM, Holton J, Lees A, Revesz T, Mann DM. de Silva R, et al. Among authors: dickson d. Acta Neuropathol. 2006 Apr;111(4):329-40. doi: 10.1007/s00401-006-0048-x. Epub 2006 Mar 22. Acta Neuropathol. 2006. PMID: 16552612
2,513 results