Article
Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions.
Neurobiology of aging - 1 Nov 2014
Lattante Serena, Le Ber Isabelle, Galimberti Daniela, Serpente Maria, Rivaud-Péchoux Sophie, Camuzat Agnès, Clot Fabienne, Fenoglio Chiara, Scarpini Elio, Brice Alexis, Kabashi Edor
Abstract excerpt
TMEM106B was identified as a risk factor for frontotemporal lobar degeneration (FTD) with TAR DNA-binding protein 43 kDa inclusions. It has been reported that variants in this gene are genetic modifiers of the disease and that this association is stronger in patients carrying a GRN mutation or a pathogenic expansion in chromosome 9 open reading frame 72 (C9orf72) gene. Here, we investigated the contribution of...
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