Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

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Title: Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.
Authors: Harrer P; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Kittke V; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; DZPG, Deutsches Zentrum Für Psychische Gesundheit, Munich, Germany., Saparov A; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Helmholtz Association-Munich School for Data Science (MUDS), Munich, Germany., Knaus A; Institute of Genomics Statistics and Bioinformatics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany., Zeidler S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Schot R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Kraft F; Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany., Begemann M; Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany., Koudijs S; Neurology Department, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Sorrentino U; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Zhao C; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Dzinovic I; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Pavlov M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Graf E; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Stehr AM; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany., Krawitz PM; Institute of Genomics Statistics and Bioinformatics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany., Wilhelm C; CeGaT und Praxis für Humangenetik Tübingen, Tübingen, Germany., Biskup S; CeGaT und Praxis für Humangenetik Tübingen, Tübingen, Germany., Alsalloum F; Specialist Centre for Paediatric Neurology, Neurorehabilitation and Epileptology, Schoen Clinic Vogtareuth, Vogtareuth, Germany., Berweck S; Center of child neurology, developmental medicine and rehabilitation, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland., Winkelmann J; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; DZPG, Deutsches Zentrum Für Psychische Gesundheit, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany., Oexle K; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Neurogenetic Systems Analysis Group, Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany., Kurth I; Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany., Korenke GC; Department of Neuropaediatric and Metabolic Diseases, University Children's Hospital Oldenburg, Oldenburg, Germany., Zech M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.
Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2026 Apr 09. Date of Electronic Publication: 2026 Apr 09.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1531-8257
DOI:10.1002/mds.70297