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Parkinsonism & Related Disorders|August 16, 2021
Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case seriesIvana Dzinovic, Matej Škorvánek, Ján Necpál, et al.
Brain : a Journal of Neurology|April 19, 2021
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystoniaEdoardo Monfrini, Michael Zech, Dora Steel, et al.
Movement Disorders Clinical Practice|October 27, 2018
Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and TelangiectasiaJán Necpál, Michael Zech, Matej Škorvánek, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|September 30, 2024
Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG SyndromeAntonia M Stehr, Thomas Koeglsperger, Maureen Jacob, et al.
Molecular Psychiatry|August 20, 2025
De novo protein-coding gene variants in developmental stutteringElse Eising, Ivana Dzinovic, Arianna Vino, et al.
Parkinsonism & Related Disorders|July 25, 2022
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomesIvana Dzinovic, Sylvia Boesch, Matej Škorvánek, et al.
Current Neurology and Neuroscience Reports|June 11, 2008
Genetics of restless legs syndromeJuliane Winkelmann
Case Reports in Genetics|December 8, 2017
SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral AbnormalitiesMichael Zech, Katharina Poustka, Sylvia Boesch, et al.
Parkinsonism & Related Disorders|October 26, 2017
Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia)Angela Jochim, Yong Li, Michael Zech, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
CACNA1C-Related Channelopathy Presenting With Adult-Onset Combined Dystonia-Parkinsonism: A Novel Neurological PresentationDonatella Ottaviani, Ruggero Bacchin, Arlend Pjeçi, et al.
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