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

Atıf İçin Kopyala

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)

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.