Frontotemporal lobar degeneration proteinopathies have disparate microscopic patterns of white and grey matter pathology.
Acta Neuropathologica Communications
Giannini, Lucia A A LAA; Peterson, Claire C; Ohm, Daniel D; Xie, Sharon X SX; McMillan, Corey T CT; Raskovsky, Katya K; Massimo, Lauren L; Suh, EunRah E; Van Deerlin, Vivianna M VM; Wolk, David A DA; Trojanowski, John Q JQ; Lee, Edward B EB; Grossman, Murray M; Irwin, David J DJ
Patient-derived frontotemporal lobar degeneration brain extracts induce formation and spreading of TDP-43 pathology in vivo.
Nature Communications
Porta, Sílvia S; Xu, Yan Y; Restrepo, Clark R CR; Kwong, Linda K LK; Zhang, Bin B; Brown, Hannah J HJ; Lee, Edward B EB; Trojanowski, John Q JQ; Lee, Virginia M-Y VM
Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis.
Journal Of Neurology, Neurosurgery, And Psychiatry
Irwin, David J DJ; McMillan, Corey T CT; Brettschneider, Johannes J; Libon, David J DJ; Powers, John J; Rascovsky, Katya K; Toledo, Jon B JB; Boller, Ashley A; Bekisz, Jonathan J; Chandrasekaran, Keerthi K; Wood, Elisabeth McCarty EM; Shaw, Leslie M LM; Woo, John H JH; Cook, Philip A PA; Wolk, David A DA; Arnold, Steven E SE; Van Deerlin, Vivianna M VM; McCluskey, Leo F LF; Elman, Lauren L; Lee, Virginia M-Y VM; Trojanowski, John Q JQ; Grossman, Murray M
Publication Date: 2013-02
Variant appearance in text: GRN: 348A>C; Ser116Ser
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.
Archives Of Neurology
Chen-Plotkin, Alice S AS; Martinez-Lage, Maria M; Sleiman, Patrick M A PM; Hu, William W; Greene, Robert R; Wood, Elisabeth McCarty EM; Bing, Shaoxu S; Grossman, Murray M; Schellenberg, Gerard D GD; Hatanpaa, Kimmo J KJ; Weiner, Myron F MF; White, Charles L CL; Brooks, William S WS; Halliday, Glenda M GM; Kril, Jillian J JJ; Gearing, Marla M; Beach, Thomas G TG; Graff-Radford, Neill R NR; Dickson, Dennis W DW; Rademakers, Rosa R; Boeve, Bradley F BF; Pickering-Brown, Stuart M SM; Snowden, Julie J; van Swieten, John C JC; Heutink, Peter P; Seelaar, Harro H; Murrell, Jill R JR; Ghetti, Bernardino B; Spina, Salvatore S; Grafman, Jordan J; Kaye, Jeffrey A JA; Woltjer, Randall L RL; Mesulam, Marsel M; Bigio, Eileen E; Lladó, Albert A; Miller, Bruce L BL; Alzualde, Ainhoa A; Moreno, Fermin F; Rohrer, Jonathan D JD; Mackenzie, Ian R A IR; Feldman, Howard H HH; Hamilton, Ronald L RL; Cruts, Marc M; Engelborghs, Sebastiaan S; De Deyn, Peter P PP; Van Broeckhoven, Christine C; Bird, Thomas D TD; Cairns, Nigel J NJ; Goate, Allison A; Frosch, Matthew P MP; Riederer, Peter F PF; Bogdanovic, Nenad N; Lee, Virginia M Y VM; Trojanowski, John Q JQ; Van Deerlin, Vivianna M VM
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
Nature Genetics
Van Deerlin, Vivianna M VM; Sleiman, Patrick M A PM; Martinez-Lage, Maria M; Chen-Plotkin, Alice A; Wang, Li-San LS; Graff-Radford, Neill R NR; Dickson, Dennis W DW; Rademakers, Rosa R; Boeve, Bradley F BF; Grossman, Murray M; Arnold, Steven E SE; Mann, David M A DM; Pickering-Brown, Stuart M SM; Seelaar, Harro H; Heutink, Peter P; van Swieten, John C JC; Murrell, Jill R JR; Ghetti, Bernardino B; Spina, Salvatore S; Grafman, Jordan J; Hodges, John J; Spillantini, Maria Grazia MG; Gilman, Sid S; Lieberman, Andrew P AP; Kaye, Jeffrey A JA; Woltjer, Randall L RL; Bigio, Eileen H EH; Mesulam, Marsel M; Al-Sarraj, Safa S; Troakes, Claire C; Rosenberg, Roger N RN; White, Charles L CL; Ferrer, Isidro I; Lladó, Albert A; Neumann, Manuela M; Kretzschmar, Hans A HA; Hulette, Christine Marie CM; Welsh-Bohmer, Kathleen A KA; Miller, Bruce L BL; Alzualde, Ainhoa A; Lopez de Munain, Adolfo A; McKee, Ann C AC; Gearing, Marla M; Levey, Allan I AI; Lah, James J JJ; Hardy, John J; Rohrer, Jonathan D JD; Lashley, Tammaryn T; Mackenzie, Ian R A IR; Feldman, Howard H HH; Hamilton, Ronald L RL; Dekosky, Steven T ST; van der Zee, Julie J; Kumar-Singh, Samir S; Van Broeckhoven, Christine C; Mayeux, Richard R; Vonsattel, Jean Paul G JP; Troncoso, Juan C JC; Kril, Jillian J JJ; Kwok, John B J JB; Halliday, Glenda M GM; Bird, Thomas D TD; Ince, Paul G PG; Shaw, Pamela J PJ; Cairns, Nigel J NJ; Morris, John C JC; McLean, Catriona Ann CA; DeCarli, Charles C; Ellis, William G WG; Freeman, Stefanie H SH; Frosch, Matthew P MP; Growdon, John H JH; Perl, Daniel P DP; Sano, Mary M; Bennett, David A DA; Schneider, Julie A JA; Beach, Thomas G TG; Reiman, Eric M EM; Woodruff, Bryan K BK; Cummings, Jeffrey J; Vinters, Harry V HV; Miller, Carol A CA; Chui, Helena C HC; Alafuzoff, Irina I; Hartikainen, Päivi P; Seilhean, Danielle D; Galasko, Douglas D; Masliah, Eliezer E; Cotman, Carl W CW; Tuñón, M Teresa MT; Martínez, M Cristina Caballero MC; Munoz, David G DG; Carroll, Steven L SL; Marson, Daniel D; Riederer, Peter F PF; Bogdanovic, Nenad N; Schellenberg, Gerard D GD; Hakonarson, Hakon H; Trojanowski, John Q JQ; Lee, Virginia M-Y VM
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Archives Of Neurology
Yu, Chang-En CE; Bird, Thomas D TD; Bekris, Lynn M LM; Montine, Thomas J TJ; Leverenz, James B JB; Steinbart, Ellen E; Galloway, Nichole M NM; Feldman, Howard H; Woltjer, Randall R; Miller, Carol A CA; Wood, Elisabeth McCarty EM; Grossman, Murray M; McCluskey, Leo L; Clark, Christopher M CM; Neumann, Manuela M; Danek, Adrian A; Galasko, Douglas R DR; Arnold, Steven E SE; Chen-Plotkin, Alice A; Karydas, Anna A; Miller, Bruce L BL; Trojanowski, John Q JQ; Lee, Virginia M-Y VM; Schellenberg, Gerard D GD; Van Deerlin, Vivianna M VM
Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.
Acta Neuropathologica
Chen-Plotkin, Alice S AS; Xiao, Jiping J; Geser, Felix F; Martinez-Lage, Maria M; Grossman, Murray M; Unger, Travis T; Wood, Elisabeth M EM; Van Deerlin, Vivianna M VM; Trojanowski, John Q JQ; Lee, Virginia M-Y VM
Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration.
Human Molecular Genetics
Chen-Plotkin, Alice S AS; Geser, Felix F; Plotkin, Joshua B JB; Clark, Chris M CM; Kwong, Linda K LK; Yuan, Wuxing W; Grossman, Murray M; Van Deerlin, Vivianna M VM; Trojanowski, John Q JQ; Lee, Virginia M-Y VM