A new F-box protein 7 gene mutation causing typical Parkinson's disease

Lohmann, Ebba; COQUEL, Anne-Sophie; HONORE, Aurelie; Gurvit, İBRAHİM; Hanagasi, HAŞMET; Emre, Murat; LEUTENEGGER, Anne; DROUET, Valerie; SAHBATOU, Mourad; Guven, ZEYNEP; Erginel-Unaltuna, Nihan; DELEUZE, Jean-Francois; LESAGE, Suzanne; BRICE, Alexis

doi:10.1002/mds.26266

A new F-box protein 7 gene mutation causing typical Parkinson's disease

Lohmann E., COQUEL A., HONORE A., Gurvit H., Hanagasi H. A., Emre M., ...Daha Fazla

MOVEMENT DISORDERS, cilt.30, sa.8, ss.1130-1133, 2015 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 30 Sayı: 8
Basım Tarihi: 2015
Doi Numarası: 10.1002/mds.26266
Dergi Adı: MOVEMENT DISORDERS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1130-1133
Anahtar Kelimeler: FBXO7 gene, Parkinson disease, autosomal-recessive, phenotype, Turkey, WHITE-MATTER LESIONS, FBXO7
İstanbul Üniversitesi Adresli: Evet

Özet

BackgroundRecessive mutations in the F-box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian-pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations.