The TREM2 variant p.R47H is a risk factor for sporadic amyotrophic lateral sclerosis

IMPORTANCE: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which microglia play a significant and active role. Recently, a rare missense variant (p.R47H) in the microglial activating gene TREM2 was found to increase the risk of several neurodegenerative diseases, includi...

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Hlavní autoři: Cady, Janet, Koval, Erica D., Benitez, Bruno A., Zaidman, Craig, Jockel-Balsarotti, Jennifer, Allred, Peggy, Baloh, Robert H., Ravits, John, Simpson, Ericka, Appel, Stanley H., Pestronk, Alan, Goate, Alison M., Miller, Timothy M., Cruchaga, Carlos, Harms, Matthew B.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2014
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4087113/
https://ncbi.nlm.nih.gov/pubmed/24535663
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2013.6237
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