Article
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes.
Parkinsonism & related disorders - 1 Sept 2022
Dzinovic Ivana, Boesch Sylvia, Škorvánek Matej, Necpál Ján, Švantnerová Jana, Pavelekova Petra, Havránková Petra, Tsoma Eugenia, Indelicato Elisabetta, Runkel Eva, Held Valentin, Weise David, Janzarik Wibke, Eckenweiler Matthias, Berweck Steffen, Mall Volker, Haslinger Bernhard, Jech Robert, Winkelmann Juliane, Zech Michael
Abstract excerpt
INTRODUCTION: Although shared genetic factors have been previously reported between dystonia and other neurologic conditions, no sequencing study exploring such links is available. In a large dystonic cohort, we aimed at analyzing the proportions of causative variants in genes associated with disease categories other than dystonia. METHODS: Gene findings related to whole-exome sequencing-derived diagnoses in 1100...
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