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Mutation within <i>TARDBP</i> leads to Frontotemporal Dementia without motor neuron disease

4 Aug 2009

Abstract excerpt

It has been recently demonstrated that the 43-kDa transactive response (TAR)-DNA-binding protein (TARDBP) is the neuropathological hallmark of Frontotemporal Dementia (FTD) with ubiquitin-positive and tau-negative inclusions. Large series of FTD patients without motor neuron disease have been previously analysed, but no TARDBP mutation was identified. The aim of the present study was to evaluate whether TARDBP...

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PMID: 19655382
DOI: 10.1002/humu.21100

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