Article
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.
Journal of medical genetics - 19 Apr 2024
Atasu Burcu, Simón-Sánchez Javier, Hanagasi Hasmet, Bilgic Basar, Hauser Ann-Kathrin, Guven Gamze, Heutink Peter, Gasser Thomas, Lohmann Ebba
Abstract excerpt
BACKGROUND: Dystonia is one of the most common movement disorders. To date, the genetic causes of dystonia in populations of European descent have been extensively studied. However, other populations, particularly those from the Middle East, have not been adequately studied. The purpose of this study is to discover the genetic basis of dystonia in a clinically and genetically well-characterised dystonia cohort...
Topics
- Animals
- Humans
- Dystonia
- Dystonic Disorders
- Genetic Testing
- Turkey
- Molecular Biology
- Mutation
- DNA-Binding Proteins
- Apoptosis Regulatory Proteins