Article
Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia.
Neurobiology of aging - 1 Feb 2014
Ruiz Agustín, Dols-Icardo Oriol, Bullido María J, Pastor Pau, Rodríguez-Rodríguez Eloy, López de Munain Adolfo, de Pancorbo Marian M, Pérez-Tur Jordi, Alvarez Victoria, Antonell Anna, López-Arrieta Jesús, Hernández Isabel, Tárraga Lluís, Boada Mercè, Lleó Alberto, Blesa Rafael, Frank-García Ana, Sastre Isabel, Razquin Cristina, Ortega-Cubero Sara, Lorenzo Elena, Sánchez-Juan Pascual, Combarros Onofre, Moreno Fermín, Gorostidi Ana, Elcoroaristizabal Xabier, Baquero Miquel, Coto Eliecer, Sánchez-Valle Raquel, Clarimón Jordi
Abstract excerpt
A non-synonymous genetic rare variant, rs75932628-T (p.R47H), in the TREM2 gene has recently been reported to be a strong genetic risk factor for Alzheimer's disease (AD). Also, rare recessive mutations have been associated with frontotemporal dementia (FTD). We aimed to investigate the role of p.R47H variant in AD and FTD through a multi-center study comprising 3172 AD and 682 FTD patients and 2169 healthy...
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