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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
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  Data: Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.
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  Data: <searchLink fieldCode="AU" term="%22Harrer+P%22">Harrer P</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Kittke+V%22">Kittke V</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Saparov+A%22">Saparov A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Knaus+A%22">Knaus A</searchLink>; Institute of Genomics Statistics and Bioinformatics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Zeidler+S%22">Zeidler S</searchLink>; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Schot+R%22">Schot R</searchLink>; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kraft+F%22">Kraft F</searchLink>; Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Begemann+M%22">Begemann M</searchLink>; Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Koudijs+S%22">Koudijs S</searchLink>; Neurology Department, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Sorrentino+U%22">Sorrentino U</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Zhao+C%22">Zhao C</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Dzinovic+I%22">Dzinovic I</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Pavlov+M%22">Pavlov M</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Graf+E%22">Graf E</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Stehr+AM%22">Stehr AM</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Krawitz+PM%22">Krawitz PM</searchLink>; Institute of Genomics Statistics and Bioinformatics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Wilhelm+C%22">Wilhelm C</searchLink>; CeGaT und Praxis für Humangenetik Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Biskup+S%22">Biskup S</searchLink>; CeGaT und Praxis für Humangenetik Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Alsalloum+F%22">Alsalloum F</searchLink>; Specialist Centre for Paediatric Neurology, Neurorehabilitation and Epileptology, Schoen Clinic Vogtareuth, Vogtareuth, Germany.<br /><searchLink fieldCode="AU" term="%22Berweck+S%22">Berweck S</searchLink>; Center of child neurology, developmental medicine and rehabilitation, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland.<br /><searchLink fieldCode="AU" term="%22Winkelmann+J%22">Winkelmann J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Oexle+K%22">Oexle K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kurth+I%22">Kurth I</searchLink>; Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Korenke+GC%22">Korenke GC</searchLink>; Department of Neuropaediatric and Metabolic Diseases, University Children's Hospital Oldenburg, Oldenburg, Germany.<br /><searchLink fieldCode="AU" term="%22Zech+M%22">Zech M</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%228610688%22">Movement disorders : official journal of the Movement Disorder Society</searchLink> [Mov Disord] 2026 Apr 09. <i>Date of Electronic Publication: </i>2026 Apr 09.
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