The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice

Vural, Atay; Simsir, Gulsah; Tekgul, Seyma; Kocoglu, Cemile; Akcimen, Fulya; Kartal, Ece; Sen, Nesli; Lahut, Suna; Omur, Ozgur; Saner, Nazan; Gul, Tugce; Bayraktar, Elif; Palvadeau, Robin; Tunca, Ceren; Cetinkaya, Caroline; Eken, Asli; Sahbaz, Irmak; Koc, Muge; Cakmak, Ozgur; Hanagasi, Hasmet; Bilgic, Basar; Eraksoy, Mefkure; GÜNDÜZ, AYŞEGÜL; APAYDIN, HÜLYA; KIZILTAN, GÜNEŞ; Ozekmekci, Sibel; SİVA, AKSEL; Altintas, Ayşe; KAYA GÜLEÇ, ZEYNEP; Parman, Yesim; Oflazer, Piraye; Deymeer, Feza; Durmus, Hacer; Sahin, Erdi; Cakar, Arman; Tufekcioglu, Zeynep; Tekturk, Pinar; Corbali, M.; Tireli, Hulya; AKDAL, GÜLDEN; YİŞ, ULUÇ; Hiz, Semra; Sengun, Ihsan; Bora, Elcin; Serdaroglu, Gul; Ozbek, Sevda; AĞAN YILDIRIM, KADRİYE; GÜNAL, DİLEK; Us, Onder; Kurt, Semiha; AKSOY, DÜRDANE; Tokcaer, Ayse; ELMAS, MUHSİN; GÜLTEKİN, MURAT; Kumandas, Sefer; ACER, HAMİT; Ozcora, Gul; Yayla, Vildan; Soysal, Aysun; Genc, Gencer; Gulluoglu, Halil; Kotan, Dilcan; Ayas, Zeynep; Sahin, Huseyin; Tan, Ersin; Topcu, Meral; Topcuoglu, Esen; Akbostanci, Cenk; KOÇ, AYŞE; Ertan, Sibel; ELİBOL, BÜLENT; Basak, A.

doi:10.1002/mds.28518

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice

Vural A., Simsir G., Tekgul S., Kocoglu C., Akcimen F., Kartal E., ...Daha Fazla

MOVEMENT DISORDERS, cilt.36, sa.7, ss.1676-1688, 2021 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 36 Sayı: 7
Basım Tarihi: 2021
Doi Numarası: 10.1002/mds.28518
Dergi Adı: MOVEMENT DISORDERS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE
Sayfa Sayıları: ss.1676-1688
Anahtar Kelimeler: ataxia, genetics, heterogeneity, whole&#8208, exome sequencing, Turkey, DOMINANT CEREBELLAR ATAXIAS, SPINOCEREBELLAR ATAXIAS, FEATURES
İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

Background The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European populations.