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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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2014
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Article
Online Zugang: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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