Publications:

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

Publication Date: 2021-02-23

Variant appearance in text: GRN: 1058G>A; Ser353Asn

PubMed Link: 33622418

Variant Present in the following documents:

• Main text
• 40478_2021_Article_1129.pdf

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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

Publication Date: 2010-02

Variant appearance in text: GRN: 1058G>A

PubMed Link: 20142524

Variant Present in the following documents:

• Main text

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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

Publication Date: 2008-05-15

Variant appearance in text: GRN: 1058G>A

PubMed Link: 18223198

Variant Present in the following documents:

• Main text

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