Genetic bases and phenotypes of autosomal recessive Parkinson disease in a Turkish population

Lohmann, E.; Dursun, B.; LESAGE, S.; Hanagasi, HAŞMET; Sevinc, G.; HONORE, A.; Bilgic, BAŞAR; Gurvit, İBRAHİM; Dogu, O.; Kaleagasi, H.; Babacan, G.; Yazici, J.; Erginel-Unaltuna, Nihan; BRICE, A.; Emre, M.

doi:10.1111/j.1468-1331.2011.03639.x

Genetic bases and phenotypes of autosomal recessive Parkinson disease in a Turkish population

Lohmann E., Dursun B., LESAGE S., Hanagasi H. A., Sevinc G., HONORE A., ...Daha Fazla

EUROPEAN JOURNAL OF NEUROLOGY, cilt.19, sa.5, ss.769-775, 2012 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 19 Sayı: 5
Basım Tarihi: 2012
Doi Numarası: 10.1111/j.1468-1331.2011.03639.x
Dergi Adı: EUROPEAN JOURNAL OF NEUROLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.769-775
Anahtar Kelimeler: autosomal recessive PD, consanguinity, early-onset PD, mutation, Parkin gene, Parkinson disease (PD), PINK1, Turkey, EARLY-ONSET, MUTATION ANALYSIS, POINT MUTATIONS, PINK1, PARK7
İstanbul Üniversitesi Adresli: Evet

Özet

Background and purpose: To evaluate the phenotype and the frequencies of mutations in PRKN, DJ1 and PINK1 genes in patients with Parkinson disease (PD) in Turkey.