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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Article
Accesso online: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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