Pogoda, Michaela; Hilke, Franz-Joachim; Lohmann, Ebba; Sturm, Marc; Lenz, Florian; Matthes, Jakob; Muyas Remolar, Francesc, 1992-; Ossowski, Stephan; Hoischen, Alexander; Faust, Ulrike; Sepahi, Ilnaz; Casadei, Nicolas; Poths, Sven; Riess, Olaf; Schroeder, Christopher; Grundmann, Kathrin
(Frontiers, 2019)
Background: This study's aim was to investigate a large cohort of dystonia patients for pathogenic and rare variants in the ATM gene, making use of a new, cost-efficient enrichment technology for NGS-based screening. ...