Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia-like Syndrome Without Bone Involvement


GUERREIRO R. J. , Lohmann E., BRAS J. M. , GIBBS J. R. , Rohrer J. D. , Gurunlian N., ...Daha Fazla

JAMA NEUROLOGY, cilt.70, sa.1, ss.78-84, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 70 Konu: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1001/jamaneurol.2013.579
  • Dergi Adı: JAMA NEUROLOGY
  • Sayfa Sayıları: ss.78-84

Özet

Objective: To identify new genes and risk factors associated with frontotemporal dementia (FTD). Several genes and loci have been associated with different forms of FTD, but a large number of families with dementia do not harbor mutations in these genes.