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, İBRAHİM; 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., ...Daha Fazla

JAMA NEUROLOGY, cilt.70, sa.1, ss.78-84, 2013 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 70 Sayı: 1
Basım Tarihi: 2013
Doi Numarası: 10.1001/jamaneurol.2013.579
Dergi Adı: JAMA NEUROLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.78-84
İstanbul Üniversitesi Adresli: Evet

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.