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Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

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Title: Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.
Authors: 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., Brugger M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, 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., 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., 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., Lösecke S; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany., Derderian K; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, 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., Kopajtich R; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Prokisch H; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Deutsches Zentrum für Kinder- und Jugendgesundheit, Munich, Germany., Iuso A; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Mazurkiewicz-Bełdzińska M; Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland., Weiss D; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ludwig C; Bavarian Center for Biomolecular Mass Spectrometry (BayBioMS), Technical University of Munich, Freising, Germany., Abele M; Bavarian Center for Biomolecular Mass Spectrometry (BayBioMS), Technical University of Munich, Freising, Germany., Mergner J; Bavarian Center for Biomolecular Mass Spectrometry at the University hospital rechts der Isar, Technical University of Munich, Munich, Germany., 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, Deutsche Zentrum für Psychische Gesundheit, Munich, Germany.; Munich Cluster for Systems Neurology, Munich, Germany., Brunet T; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany., Schinwelski M; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdańsk, Gdansk, Poland.; Neurocentrum-Miwomed Sp. z o.o, Gdańsk, Poland., Graf E; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany., Kloth-Stachnau K; Amedes MVZ für Humangenetik Hamburg GmbH, Hamburg, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Krygier M; Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland., 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 Jul 09. Date of Electronic Publication: 2026 Jul 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
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  Data: <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="%22Brugger+M%22">Brugger M</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, 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.<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="%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="%22Lösecke+S%22">Lösecke S</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Derderian+K%22">Derderian K</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, 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="%22Kopajtich+R%22">Kopajtich R</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="%22Prokisch+H%22">Prokisch H</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Deutsches Zentrum für Kinder- und Jugendgesundheit, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Iuso+A%22">Iuso 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.<br /><searchLink fieldCode="AU" term="%22Mazurkiewicz-Bełdzińska+M%22">Mazurkiewicz-Bełdzińska M</searchLink>; Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland.<br /><searchLink fieldCode="AU" term="%22Weiss+D%22">Weiss D</searchLink>; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Ludwig+C%22">Ludwig C</searchLink>; Bavarian Center for Biomolecular Mass Spectrometry (BayBioMS), Technical University of Munich, Freising, Germany.<br /><searchLink fieldCode="AU" term="%22Abele+M%22">Abele M</searchLink>; Bavarian Center for Biomolecular Mass Spectrometry (BayBioMS), Technical University of Munich, Freising, Germany.<br /><searchLink fieldCode="AU" term="%22Mergner+J%22">Mergner J</searchLink>; Bavarian Center for Biomolecular Mass Spectrometry at the University hospital rechts der Isar, Technical University of Munich, Munich, Germany.<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, Deutsche Zentrum für Psychische Gesundheit, Munich, Germany.; Munich Cluster for Systems Neurology, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Brunet+T%22">Brunet T</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Schinwelski+M%22">Schinwelski M</searchLink>; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdańsk, Gdansk, Poland.; Neurocentrum-Miwomed Sp. z o.o, Gdańsk, Poland.<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.<br /><searchLink fieldCode="AU" term="%22Kloth-Stachnau+K%22">Kloth-Stachnau K</searchLink>; Amedes MVZ für Humangenetik Hamburg GmbH, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Herget+T%22">Herget T</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Krygier+M%22">Krygier M</searchLink>; Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland.<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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