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Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, van Swieten JC, Murrell JR, Ghetti B, Spina S, Grafman J, Hodges J, Spillantini MG, Gilman S, Lieberman AP, Kaye JA, Woltjer RL, Bigio EH, Mesulam M, Al-Sarraj S, Troakes C, Rosenberg RN, White CL 3rd, Ferrer I, Lladó A, Neumann M, Kretzschmar HA, Hulette CM, Welsh-Bohmer KA, Miller BL, Alzualde A, Lopez de Munain A, McKee AC, Gearing M, Levey AI, Lah JJ, Hardy J, Rohrer JD, Lashley T, Mackenzie IR, Feldman HH, Hamilton RL, Dekosky ST, van der Zee J, Kumar-Singh S, Van Broeckhoven C, Mayeux R, Vonsattel JP, Troncoso JC, Kril JJ, Kwok JB, Halliday GM, Bird TD, Ince PG, Shaw PJ, Cairns NJ, Morris JC, McLean CA, DeCarli C, Ellis WG, Freeman SH, Frosch MP, Growdon JH, Perl DP, Sano M, Bennett DA, Schneider JA, Beach TG, Reiman EM, Woodruff BK, Cummings J, Vinters HV, Miller CA, Chui HC, Alafuzoff I, Hartikainen P, Seilhean D, Galasko D, Masliah E, Cotman CW, Tuñón MT, Martínez MC, Munoz DG, Carroll SL, Marson D, Riederer PF, Bogdanovic N, Schellenberg GD, Hakonarson H, Trojanowski JQ, Lee V… See abstract for full author list ➔ Van Deerlin VM, et al. Nat Genet. 2010 Mar;42(3):234-9. doi: 10.1038/ng.536. Epub 2010 Feb 14. Nat Genet. 2010. PMID: 20154673 Free PMC article.
Alliance A071401: Phase II Trial of Focal Adhesion Kinase Inhibition in Meningiomas With Somatic NF2 Mutations.
Brastianos PK, Twohy EL, Gerstner ER, Kaufmann TJ, Iafrate AJ, Lennerz J, Jeyapalan S, Piccioni DE, Monga V, Fadul CE, Schiff D, Taylor JW, Chowdhary SA, Bettegowda C, Ansstas G, De La Fuente M, Anderson MD, Shonka N, Damek D, Carrillo J, Kunschner-Ronan LJ, Chaudhary R, Jaeckle KA, Senecal FM, Kaley T, Morrison T, Thomas AA, Welch MR, Iwamoto F, Cachia D, Cohen AL, Vora S, Knopp M, Dunn IF, Kumthekar P, Sarkaria J, Geyer S, Carrero XW, Martinez-Lage M, Cahill DP, Brown PD, Giannini C, Santagata S, Barker FG 2nd, Galanis E. Brastianos PK, et al. J Clin Oncol. 2023 Jan 20;41(3):618-628. doi: 10.1200/JCO.21.02371. Epub 2022 Oct 26. J Clin Oncol. 2023. PMID: 36288512 Free PMC article. Clinical Trial.
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.
Van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, Clay D, Wood EM, Chen-Plotkin AS, Martinez-Lage M, Steinbart E, McCluskey L, Grossman M, Neumann M, Wu IL, Yang WS, Kalb R, Galasko DR, Montine TJ, Trojanowski JQ, Lee VM, Schellenberg GD, Yu CE. Van Deerlin VM, et al. Lancet Neurol. 2008 May;7(5):409-16. doi: 10.1016/S1474-4422(08)70071-1. Epub 2008 Apr 7. Lancet Neurol. 2008. PMID: 18396105 Free PMC article.
Clinical and pathological continuum of multisystem TDP-43 proteinopathies.
Geser F, Martinez-Lage M, Robinson J, Uryu K, Neumann M, Brandmeir NJ, Xie SX, Kwong LK, Elman L, McCluskey L, Clark CM, Malunda J, Miller BL, Zimmerman EA, Qian J, Van Deerlin V, Grossman M, Lee VM, Trojanowski JQ. Geser F, et al. Arch Neurol. 2009 Feb;66(2):180-9. doi: 10.1001/archneurol.2008.558. Arch Neurol. 2009. PMID: 19204154 Free PMC article.
Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.
Chen-Plotkin AS, Xiao J, Geser F, Martinez-Lage M, Grossman M, Unger T, Wood EM, Van Deerlin VM, Trojanowski JQ, Lee VM. Chen-Plotkin AS, et al. Acta Neuropathol. 2010 Jan;119(1):111-22. doi: 10.1007/s00401-009-0576-2. Epub 2009 Aug 2. Acta Neuropathol. 2010. PMID: 19649643 Free PMC article.
116 results