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

GUERREIRO, Rita; Lohmann, Ebba; BRAS, Jose; GIBBS, Jesse; Rohrer, Jonathan; Gurunlian, Nicole; Dursun, Burcu; Bilgic, Başar; Hanagasi, Haşmet; Gurvit, İbrahim; Emre, Murat; SINGLETON, Andrew; Hardy, John

doi:10.1001/jamaneurol.2013.579

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., ...More

JAMA NEUROLOGY, vol.70, no.1, pp.78-84, 2013 (SCI-Expanded)

Publication Type: Article / Article
Volume: 70 Issue: 1
Publication Date: 2013
Doi Number: 10.1001/jamaneurol.2013.579
Journal Name: JAMA NEUROLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.78-84
Istanbul University Affiliated: Yes

Abstract

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.