Article
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
Human mutation - 1 Aug 2020
Tunca Ceren, Şeker Tuncay, Akçimen Fulya, Coşkun Cemre, Bayraktar Elif, Palvadeau Robin, Zor Seyit, Koçoğlu Cemile, Kartal Ece, Şen Nesli Ece, Hamzeiy Hamid, Özoğuz Erimiş Aslıhan, Norman Utku, Karakahya Oğuzhan, Olgun Gülden, Akgün Tahsin, Durmuş Hacer, Şahin Erdi, Çakar Arman, Başar Gürsoy Esra, Babacan Yıldız Gülsen, İşak Barış, Uluç Kayıhan, Hanağası Haşmet, Bilgiç Başar, Turgut Nilda, Aysal Fikret, Ertaş Mustafa, Boz Cavit, Kotan Dilcan, İdrisoğlu Halil, Soysal Aysun, Uzun Adatepe Nurten, Akalın Mehmet Ali, Koç Filiz, Tan Ersin, Oflazer Piraye, Deymeer Feza, Taştan Öznur, Çiçek A Ercüment, Kavak Erşen, Parman Yeşim, Başak A Nazlı
Abstract excerpt
The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS in the ethnically heterogeneous yet inbred Turkish population. Familial ALS (fALS) accounts for 20% of our cases. The rates of consanguinity are 30% in fALS and 23% in...
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