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

Cyril Pottier, Kevin F. Bieniek, NiCole Finch, Maartje van de Vorst, Matt Baker, Ralph Perkersen, Patricia Brown, Thomas Ravenscroft, Marka van Blitterswijk, Alexandra M. Nicholson, Michael DeTure, David S. Knopman, Keith A. Josephs, Joseph E. Parisi, Ronald C. Petersen, Kevin B. Boylan, Bradley F. Boeve, Neill R. Graff-Radford, Joris A. Veltman, Christian GilissenMelissa E. Murray, Dennis W. Dickson, Rosa Rademakers*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)77-92
JournalActa Neuropathologica
Issue number1
Publication statusPublished - Jul 2015


  • Whole-genome sequencing
  • OPTN
  • TBK1
  • Oligogenic mechanism

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