Genetic and Clinical Features of Progranulin-Associated Frontotemporal Lobar Degeneration

OBJECTIVE: To assess the relative frequency of unique mutations and their associated characteristics in 97 individuals with mutations in progranulin (GRN), an important cause of frontotemporal lobar degeneration (FTLD). PARTICIPANTS AND DESIGN: A 46-site International Frontotemporal Lobar Degenerati...

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Hlavní autoři: Chen-Plotkin, Alice S., Martinez-Lage, Maria, Sleiman, Patrick M. A., Hu, William, Greene, Robert, Wood, Elisabeth McCarty, Bing, Shaoxu, Grossman, Murray, Schellenberg, Gerard D., Hatanpaa, Kimmo J., Weiner, Myron F., White, Charles L., Brooks, William S., Halliday, Glenda M., Kril, Jillian J., Gearing, Marla, Beach, Thomas G., Graff-Radford, Neill R., Dickson, Dennis W., Rademakers, Rosa, Boeve, Bradley F., Pickering-Brown, Stuart M., Snowden, Julie, van Swieten, John C., Heutink, Peter, Seelaar, Harro, Murrell, Jill R., Ghetti, Bernardino, Spina, Salvatore, Grafman, Jordan, Kaye, Jeffrey A., Woltjer, Randall L., Mesulam, Marsel, Bigio, Eileen, Lladó, Albert, Miller, Bruce L., Alzualde, Ainhoa, Moreno, Fermin, Rohrer, Jonathan D., Mackenzie, Ian R. A., Feldman, Howard H., Hamilton, Ronald L., Cruts, Marc, Engelborghs, Sebastiaan, De Deyn, Peter P., Van Broeckhoven, Christine, Bird, Thomas D., Cairns, Nigel J., Goate, Allison, Frosch, Matthew P., Riederer, Peter F., Bogdanovic, Nenad, Lee, Virginia M. Y., Trojanowski, John Q., Van Deerlin, Vivianna M.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3160280/
https://ncbi.nlm.nih.gov/pubmed/21482928
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2011.53
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