A genome-wide association study has identified a new genetic susceptibility factor for a subtype of frontotemporal lobar dementia characterized by TDP-43 inclusions. The work illustrates how high-quality phenotyping can increase power to detect risk alleles for rare heterogeneous diseases.
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Lambert, JC., Amouyel, P. Deciphering genetic susceptibility to frontotemporal lobar dementia. Nat Genet 42, 189–190 (2010). https://doi.org/10.1038/ng0310-189
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DOI: https://doi.org/10.1038/ng0310-189