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Annals of Neurology|November 5, 2022
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal LesionsPhilip Harrer, Audrey Schalk, Masaru Shimura, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 9, 2026
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omicsUgo Sorrentino, Melanie Brugger, Alice Saparov, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 10, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4Philip Harrer, Volker Kittke, Alice Saparov, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 24, 2023
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation DysfunctionPhilip Harrer, Matej Škorvánek, Volker Kittke, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 1, 2025
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in DystoniaUgo Sorrentino, Martin Pavlov, Nazanin Mirza-Schreiber, et al.
Ebiomedicine|June 29, 2026
Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental featuresElisa Peirano, Laura O'Regan, Philip Harrer, et al.
Annals of Neurology|February 2, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia CohortAlice Saparov, Ivana Dzinovic, Theresa Brunet, et al.
Brain : a Journal of Neurology|February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystoniaMichael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
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