R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study

IMPORTANCE: The R47H variant in the triggering receptor expressed on myeloid cells 2 gene (TREM2), a modulator of the immune response of microglia, is a strong genetic risk factor for Alzheimer disease (AD) and possibly other neurodegenerative disorders. OBJECTIVE: To investigate a large family with...

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Publicat a:JAMA Neurol
Autors principals: Korvatska, Olena, Leverenz, James B., Jayadev, Suman, McMillan, Pamela, Kurtz, Irina, Guo, Xindi, Rumbaugh, Malia, Matsushita, Mark, Girirajan, Santhosh, Dorschner, Michael O., Kiianitsa, Kostantin, Yu, Chang-En, Brkanac, Zoran, Garden, Gwenn A., Raskind, Wendy H., Bird, Thomas D.
Format: Artigo
Idioma:Inglês
Publicat: 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4825672/
https://ncbi.nlm.nih.gov/pubmed/26076170
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2015.0979
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