Article
TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy.
Acta neuropathologica - 1 Nov 2009
Gitcho Michael A, Bigio Eileen H, Mishra Manjari, Johnson Nancy, Weintraub Sandra, Mesulam Marsel, Rademakers Rosa, Chakraverty Sumi, Cruchaga Carlos, Morris John C, Goate Alison M, Cairns Nigel J
Abstract excerpt
Pathogenic mutations in the gene encoding TDP-43, TARDBP, have been reported in familial amyotrophic lateral sclerosis (FALS) and, more recently, in families with a heterogeneous clinical phenotype including both ALS and frontotemporal lobar degeneration (FTLD). In our previous study, sequencing analyses identified one variant in the 3'-untranslated region (3'-UTR) of the TARDBP gene in two affected members of...
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