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

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)77-92
JournalActa Neuropathologica
Volume130
Issue number1
DOIs
Publication statusPublished - Jul 2015

Keywords

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

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