Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

Frontotemporal lobar degeneration with TAR DNA binding protein 43 inclusions (FTLD-TDP) is the most common pathology associated with frontotemporal dementia (FTD). Repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) and mutations in progranulin (GRN) are the major known genetic causes...

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Publicado no:Acta Neuropathol
Main Authors: Pottier, Cyril, Bieniek, Kevin F., Finch, NiCole, van de Vorst, Maartje, Baker, Matt, Perkersen, Ralph, Brown, Patricia, Ravenscroft, Thomas, van Blitterswijk, Marka, Nicholson, Alexandra M., DeTure, Michael, Knopman, David S., Josephs, Keith A., Parisi, Joseph E., Petersen, Ronald, Boylan, Kevin B., Boeve, Bradley F., Graff-Radford, Neill R., Veltman, Joris A., Gilissen, Christian, Murray, Melissa, Dicksonand, Dennis W., Rademakers, Rosa
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4470809/
https://ncbi.nlm.nih.gov/pubmed/25943890
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-015-1436-x
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