TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

Variants in transmembrane protein 106 B (TMEM106B) modify the disease penetrance of frontotemporal dementia (FTD) in carriers of progranulin (GRN) mutations. We investigated whether TMEM106B is also a genetic modifier of disease in carriers of chromosome 9 open reading frame 72 (C9ORF72) expansions....

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主要な著者: van Blitterswijk, Marka, Mullen, Bianca, Nicholson, Alexandra M., Bieniek, Kevin F., Heckman, Michael G., Baker, Matthew C., DeJesus-Hernandez, Mariely, Finch, NiCole A., Brown, Patricia H., Murray, Melissa E., Hsiung, Ging-Yuek R., Stewart, Heather, Karydas, Anna M., Finger, Elizabeth, Kertesz, Andrew, Bigio, Eileen H., Weintraub, Sandra, Mesulam, Marsel, Hatanpaa, Kimmo J., White, Charles L., Strong, Michael J., Beach, Thomas G., Wszolek, Zbigniew K., Lippa, Carol, Caselli, Richard, Petrucelli, Leonard, Josephs, Keith A., Parisi, Joseph E., Knopman, David S., Petersen, Ronald C., Mackenzie, Ian R., Seeley, William W., Grinberg, Lea T., Miller, Bruce L., Boylan, Kevin B., Graff-Radford, Neill R., Boeve, Bradley F., Dickson, Dennis W., Rademakers, Rosa
フォーマット: Artigo
言語:Inglês
出版事項: 2014
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Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3944829/
https://ncbi.nlm.nih.gov/pubmed/24385136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-013-1240-4
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