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Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

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Title: Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Authors: Zech M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.; Institute for Advanced Study, Technical University of Munich, Garching 85748, Germany.; Bavarian Genomes Network for Rare Disorders, Munich 81675, Germany., Dzinovic I; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany., Skorvanek M; Department of Neurology, P.J. Safarik University, Kosice 4001, Slovakia.; Department of Neurology, University Hospital of L. Pasteur, Kosice 4001, Slovakia., Harrer P; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany., Necpal J; Department of Neurology, Zvolen Hospital, Zvolen 96001, Slovakia.; Parkinsonism and Movement Disorders Treatment Center, Zvolen Hospital, Zvolen 96001, Slovakia., Kopajtich R; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany., Kittke V; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany., Tilch E; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany., Zhao C; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany., Tsoma E; Department of Family Medicine and Outpatient Care, Regional Clinical Center of Neurosurgery and Neurology, Uzhhorod National University, Uzhhorod 88000, Ukraine., Sorrentino U; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.; Department of Women's and Children's Health, Clinical Genetics Unit, University of Padova, Padua 35128, Italy., Indelicato E; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.; Department of Neurology, Center for Rare Movement Disorders Innsbruck, Medical University of Innsbruck, Innsbruck 6020, Austria., Stehr A; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany., Saparov A; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany., Abela L; Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zurich 8008, Switzerland., Adamovicova M; Department of Paediatric Neurology, Thomayer University Hospital, Prague 12108, Czech Republic., Afenjar A; Clinical Genetics Unit, Reference Center for Cerebellar Malformations and Congenital Diseases, Armand-Trousseau Hospital, APHP, Sorbonne University, Paris 75013, France., Assmann B; Center for Pediatric and Adolescent Medicine, Clinic I, University Hospital Heidelberg, Heidelberg University, Heidelberg 69120, Germany., Baloghova J; Faculty of Medicine, Department of Dermatovenerology, P. J. Safarik University, Kosice 4001, Slovakia.; Department of Dermatovenerology, University Hospital of L. Pasteur, Kosice 4001, Slovakia., Baumann M; Division of Pediatric Neurology, Department of Pediatrics I, Medical University of Innsbruck, Innsbruck 6020, Austria., Berutti R; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.; Center for Advanced Studies, Research and Development in Sardinia, NGS Bioinformatics, Pula 09010, Italy., Brezna Z; Parkinsonism and Movement Disorders Treatment Center, Zvolen Hospital, Zvolen 96001, Slovakia., Brugger M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Bavarian Genomes Network for Rare Disorders, Munich 81675, Germany.; Department of Obstetrics and Gynecology, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany., Brunet T; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Bavarian Genomes Network for Rare Disorders, Munich 81675, Germany.; Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-Universität, Munich 80337, Germany., Cogne B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes 44000, France., Colangelo I; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy., Conboy E; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Distelmaier F; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf 40225, Germany.; Department of General Pediatrics, West German Center for Child and Adolescent Health, Düsseldorf 40225, Germany., Eckenweiler M; Faculty of Medicine, Department of Neuropediatrics and Muscle Disorders, University Medical Center, University of Freiburg, Freiburg 79110, Germany., Garavaglia B; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy., Geerlof A; Institute of Structural Biology, Helmholtz Center Munich, Munich 85764, Germany., Graf E; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Bavarian Genomes Network for Rare Disorders, Munich 81675, Germany., Hackenberg A; Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zurich 8008, Switzerland., Harvanova D; Faculty of Medicine, Associated Tissue Bank, P. J. Safarik University and L. Pasteur University Hospital in Kosice, Kosice 4001, Slovakia., Haslinger B; Department of Neurology, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany., Havrankova P; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine Charles University and General University Hospital in Prague, Prague 12108, Czech Republic., Hoffmann GF; Center for Pediatric and Adolescent Medicine, Clinic I, University Hospital Heidelberg, Heidelberg University, Heidelberg 69120, Germany., Janzarik WG; Faculty of Medicine, Department of Neuropediatrics and Muscle Disorders, University Medical Center, University of Freiburg, Freiburg 79110, Germany., Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris 75013, France., Kolnikova M; Faculty of Medicine, Department of Pediatric Neurology, Comenius University, University Hospital Bratislava and National Institute of Children's Diseases, Bratislava 83340, Slovakia., Kolokotronis K; Institute of Medical Genetics, University of Zurich, Zurich 8952, Switzerland., Kosutzka Z; Faculty of Medicine, Second Department of Neurology, Comenius University, University Hospital Bratislava, Bratislava 83340, Slovakia., Koy A; Faculty of Medicine and University Hospital Cologne, Department of Pediatrics, University of Cologne, Cologne 50937, Germany.; Faculty of Medicine and University Hospital Cologne, Center for Rare Diseases, University of Cologne, Cologne 50937, Germany., Krenn M; Department of Neurology, Medical University of Vienna, Vienna 1090, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna 1090, Austria., Krygier M; Department of Developmental Neurology, Medical University of Gdansk, Gdansk 80210, Poland., Kusikova K; Faculty of Medicine, Department of Pediatric Neurology, Comenius University, University Hospital Bratislava and National Institute of Children's Diseases, Bratislava 83340, Slovakia., Maier O; Division of Child Neurology, Department of Pediatrics, Children's Hospital, St. Gallen 9000, Switzerland., Meitinger T; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Bavarian Genomes Network for Rare Disorders, Munich 81675, Germany., Mertes C; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Bavarian Genomes Network for Rare Disorders, Munich 81675, Germany.; School of Computation, Information and Technology, Technical University of Munich, Garching 85748, Germany.; Munich Data Science Institute, Technical University of Munich, Garching 85748, Germany., Milenkovic I; Department of Neurology, Medical University of Vienna, Vienna 1090, Austria., Monfrini E; Department of Pathophysiology and Transplantation, Dino Ferrari Center, Neuroscience Section, University of Milan, Milan 20122, Italy.; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan 20122, Italy., Santos Dias Mourao A; Institute of Structural Biology, Helmholtz Center Munich, Munich 85764, Germany., Musacchio T; Department of Neurology, University Hospital of Würzburg, Wurzburg 97080, Germany.; Center for Rare Diseases, University Hospital of Würzburg, Wurzburg 97080, Germany., Nizon M; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes 44000, France., Ostrozovicova M; Department of Neurology, P.J. Safarik University, Kosice 4001, Slovakia.; Department of Neurology, University Hospital of L. Pasteur, Kosice 4001, Slovakia., Pavlov M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany., Prihodova I; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine Charles University and General University Hospital in Prague, Prague 12108, Czech Republic., Rektorova I; Brain and Mind Research Program, CEITEC, Masaryk University, Brno 62500, Czech Republic.; First Department of Neurology, St. Anne's University Hospital and Faculty of Medicine, Masaryk University, Brno 62500, Czech Republic., Romito LM; Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy., Rybanska B; Faculty of Medicine, Department of Pediatric Neurology, Comenius University, University Hospital Bratislava and National Institute of Children's Diseases, Bratislava 83340, Slovakia., Sadr-Nabavi A; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.; Faculty of Medicine, Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad 9177948564, Iran.; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad 9177948564, Iran.; Faculty of Medicine, Department of Neurology, Mashhad University of Medical Sciences, Qaem Medical Center, Mashhad 9177948564, Iran.; Academic Center for Education, Culture and Research (ACECR)-Khorasan Razavi, Mashhad 9177948564, Iran., Schwenger S; kbo-Kinderzentrum München, Munich 81377, Germany., Shoeibi A; Faculty of Medicine, Department of Neurology, Mashhad University of Medical Sciences, Qaem Medical Center, Mashhad 9177948564, Iran., Sitzberger A; Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-Universität, Munich 80337, Germany., Smirnov D; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany., Svantnerova J; Faculty of Medicine, Second Department of Neurology, Comenius University, University Hospital Bratislava, Bratislava 83340, Slovakia., Tautanova R; Department of Neurosurgery, Medical Centre Hospital of the President's Affairs Administration of the Republic of Kazakhstan, Astana E495, Kazakhstan., Toelle SP; Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zurich 8008, Switzerland., Ulmanova O; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine Charles University and General University Hospital in Prague, Prague 12108, Czech Republic., Vetrini F; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Vill K; Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-Universität, Munich 80337, Germany., Wagner M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.; Bavarian Genomes Network for Rare Disorders, Munich 81675, Germany.; Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-Universität, Munich 80337, Germany., Weise D; Department of Neurology, Asklepios Fachklinikum Stadtroda, Stadtroda 07646, Germany.; Department of Neurology, University of Leipzig, Leipzig 04103, Germany., Zorzi G; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy., Di Fonzo A; Department of Pathophysiology and Transplantation, Dino Ferrari Center, Neuroscience Section, University of Milan, Milan 20122, Italy.; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan 20122, Italy., Oexle K; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany., Berweck S; Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-Universität, Munich 80337, Germany.; Specialist Center for Pediatric Neurology, Neurorehabilitation and Epileptology, Schön Clinic, Vogtareuth 83569, Germany., Mall V; kbo-Kinderzentrum München, Munich 81377, Germany.; Chair of Social Pediatrics, Technical University of Munich, Munich 80333, Germany., Boesch S; Department of Neurology, Center for Rare Movement Disorders Innsbruck, Medical University of Innsbruck, Innsbruck 6020, Austria., Schormair B; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany., Prokisch H; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.; DZKJ, Deutsches Zentrum Für Kinder- und Jugendgesundheit, Munich 80333, Germany., Jech R; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine Charles University and General University Hospital in Prague, Prague 12108, Czech Republic., Winkelmann J; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.; Bavarian Genomes Network for Rare Disorders, Munich 81675, Germany.; DZPG, Deutsches Zentrum Für Psychische Gesundheit, Munich 80333, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich 81377, Germany.
Source: Brain : a journal of neurology [Brain] 2025 Aug 01; Vol. 148 (8), pp. 2827-2846.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
An: 39937650
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Items – Name: Title
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  Data: Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Zech+M%22">Zech M</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.; Institute for Advanced Study, Technical University of Munich, Garching 85748, Germany.; Bavarian Genomes Network for Rare Disorders, Munich 81675, 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 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.<br /><searchLink fieldCode="AU" term="%22Skorvanek+M%22">Skorvanek M</searchLink>; Department of Neurology, P.J. Safarik University, Kosice 4001, Slovakia.; Department of Neurology, University Hospital of L. Pasteur, Kosice 4001, Slovakia.<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 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.<br /><searchLink fieldCode="AU" term="%22Necpal+J%22">Necpal J</searchLink>; Department of Neurology, Zvolen Hospital, Zvolen 96001, Slovakia.; Parkinsonism and Movement Disorders Treatment Center, Zvolen Hospital, Zvolen 96001, Slovakia.<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 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, 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 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.<br /><searchLink fieldCode="AU" term="%22Tilch+E%22">Tilch E</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, 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 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.<br /><searchLink fieldCode="AU" term="%22Tsoma+E%22">Tsoma E</searchLink>; Department of Family Medicine and Outpatient Care, Regional Clinical Center of Neurosurgery and Neurology, Uzhhorod National University, Uzhhorod 88000, Ukraine.<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 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.; Department of Women's and Children's Health, Clinical Genetics Unit, University of Padova, Padua 35128, Italy.<br /><searchLink fieldCode="AU" term="%22Indelicato+E%22">Indelicato E</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.; Department of Neurology, Center for Rare Movement Disorders Innsbruck, Medical University of Innsbruck, Innsbruck 6020, Austria.<br /><searchLink fieldCode="AU" term="%22Stehr+A%22">Stehr A</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, 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 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.<br /><searchLink fieldCode="AU" term="%22Abela+L%22">Abela L</searchLink>; Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zurich 8008, Switzerland.<br /><searchLink fieldCode="AU" term="%22Adamovicova+M%22">Adamovicova M</searchLink>; Department of Paediatric Neurology, Thomayer University Hospital, Prague 12108, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Afenjar+A%22">Afenjar A</searchLink>; Clinical Genetics Unit, Reference Center for Cerebellar Malformations and Congenital Diseases, Armand-Trousseau Hospital, APHP, Sorbonne University, Paris 75013, France.<br /><searchLink fieldCode="AU" term="%22Assmann+B%22">Assmann B</searchLink>; Center for Pediatric and Adolescent Medicine, Clinic I, University Hospital Heidelberg, Heidelberg University, Heidelberg 69120, Germany.<br /><searchLink fieldCode="AU" term="%22Baloghova+J%22">Baloghova J</searchLink>; Faculty of Medicine, Department of Dermatovenerology, P. J. Safarik University, Kosice 4001, Slovakia.; Department of Dermatovenerology, University Hospital of L. Pasteur, Kosice 4001, Slovakia.<br /><searchLink fieldCode="AU" term="%22Baumann+M%22">Baumann M</searchLink>; Division of Pediatric Neurology, Department of Pediatrics I, Medical University of Innsbruck, Innsbruck 6020, Austria.<br /><searchLink fieldCode="AU" term="%22Berutti+R%22">Berutti R</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.; Center for Advanced Studies, Research and Development in Sardinia, NGS Bioinformatics, Pula 09010, Italy.<br /><searchLink fieldCode="AU" term="%22Brezna+Z%22">Brezna Z</searchLink>; Parkinsonism and Movement Disorders Treatment Center, Zvolen Hospital, Zvolen 96001, Slovakia.<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 81675, Germany.; Bavarian Genomes Network for Rare Disorders, Munich 81675, Germany.; Department of Obstetrics and Gynecology, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, 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 81675, Germany.; Bavarian Genomes Network for Rare Disorders, Munich 81675, Germany.; Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-Universität, Munich 80337, Germany.<br /><searchLink fieldCode="AU" term="%22Cogne+B%22">Cogne B</searchLink>; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Colangelo+I%22">Colangelo I</searchLink>; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy.<br /><searchLink fieldCode="AU" term="%22Conboy+E%22">Conboy E</searchLink>; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.<br /><searchLink fieldCode="AU" term="%22Distelmaier+F%22">Distelmaier F</searchLink>; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf 40225, Germany.; Department of General Pediatrics, West German Center for Child and Adolescent Health, Düsseldorf 40225, Germany.<br /><searchLink fieldCode="AU" term="%22Eckenweiler+M%22">Eckenweiler M</searchLink>; Faculty of Medicine, Department of Neuropediatrics and Muscle Disorders, University Medical Center, University of Freiburg, Freiburg 79110, Germany.<br /><searchLink fieldCode="AU" term="%22Garavaglia+B%22">Garavaglia B</searchLink>; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy.<br /><searchLink fieldCode="AU" term="%22Geerlof+A%22">Geerlof A</searchLink>; Institute of Structural Biology, Helmholtz Center Munich, Munich 85764, 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 81675, Germany.; Bavarian Genomes Network for Rare Disorders, Munich 81675, Germany.<br /><searchLink fieldCode="AU" term="%22Hackenberg+A%22">Hackenberg A</searchLink>; Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zurich 8008, Switzerland.<br /><searchLink fieldCode="AU" term="%22Harvanova+D%22">Harvanova D</searchLink>; Faculty of Medicine, Associated Tissue Bank, P. J. Safarik University and L. Pasteur University Hospital in Kosice, Kosice 4001, Slovakia.<br /><searchLink fieldCode="AU" term="%22Haslinger+B%22">Haslinger B</searchLink>; Department of Neurology, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.<br /><searchLink fieldCode="AU" term="%22Havrankova+P%22">Havrankova P</searchLink>; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine Charles University and General University Hospital in Prague, Prague 12108, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Hoffmann+GF%22">Hoffmann GF</searchLink>; Center for Pediatric and Adolescent Medicine, Clinic I, University Hospital Heidelberg, Heidelberg University, Heidelberg 69120, Germany.<br /><searchLink fieldCode="AU" term="%22Janzarik+WG%22">Janzarik WG</searchLink>; Faculty of Medicine, Department of Neuropediatrics and Muscle Disorders, University Medical Center, University of Freiburg, Freiburg 79110, Germany.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Department of Genetics, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris 75013, France.<br /><searchLink fieldCode="AU" term="%22Kolnikova+M%22">Kolnikova M</searchLink>; Faculty of Medicine, Department of Pediatric Neurology, Comenius University, University Hospital Bratislava and National Institute of Children's Diseases, Bratislava 83340, Slovakia.<br /><searchLink fieldCode="AU" term="%22Kolokotronis+K%22">Kolokotronis K</searchLink>; Institute of Medical Genetics, University of Zurich, Zurich 8952, Switzerland.<br /><searchLink fieldCode="AU" term="%22Kosutzka+Z%22">Kosutzka Z</searchLink>; Faculty of Medicine, Second Department of Neurology, Comenius University, University Hospital Bratislava, Bratislava 83340, Slovakia.<br /><searchLink fieldCode="AU" term="%22Koy+A%22">Koy A</searchLink>; Faculty of Medicine and University Hospital Cologne, Department of Pediatrics, University of Cologne, Cologne 50937, Germany.; Faculty of Medicine and University Hospital Cologne, Center for Rare Diseases, University of Cologne, Cologne 50937, Germany.<br /><searchLink fieldCode="AU" term="%22Krenn+M%22">Krenn M</searchLink>; Department of Neurology, Medical University of Vienna, Vienna 1090, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna 1090, Austria.<br /><searchLink fieldCode="AU" term="%22Krygier+M%22">Krygier M</searchLink>; Department of Developmental Neurology, Medical University of Gdansk, Gdansk 80210, Poland.<br /><searchLink fieldCode="AU" term="%22Kusikova+K%22">Kusikova K</searchLink>; Faculty of Medicine, Department of Pediatric Neurology, Comenius University, University Hospital Bratislava and National Institute of Children's Diseases, Bratislava 83340, Slovakia.<br /><searchLink fieldCode="AU" term="%22Maier+O%22">Maier O</searchLink>; Division of Child Neurology, Department of Pediatrics, Children's Hospital, St. Gallen 9000, Switzerland.<br /><searchLink fieldCode="AU" term="%22Meitinger+T%22">Meitinger T</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Bavarian Genomes Network for Rare Disorders, Munich 81675, Germany.<br /><searchLink fieldCode="AU" term="%22Mertes+C%22">Mertes C</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Bavarian Genomes Network for Rare Disorders, Munich 81675, Germany.; School of Computation, Information and Technology, Technical University of Munich, Garching 85748, Germany.; Munich Data Science Institute, Technical University of Munich, Garching 85748, Germany.<br /><searchLink fieldCode="AU" term="%22Milenkovic+I%22">Milenkovic I</searchLink>; Department of Neurology, Medical University of Vienna, Vienna 1090, Austria.<br /><searchLink fieldCode="AU" term="%22Monfrini+E%22">Monfrini E</searchLink>; Department of Pathophysiology and Transplantation, Dino Ferrari Center, Neuroscience Section, University of Milan, Milan 20122, Italy.; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan 20122, Italy.<br /><searchLink fieldCode="AU" term="%22Santos+Dias+Mourao+A%22">Santos Dias Mourao A</searchLink>; Institute of Structural Biology, Helmholtz Center Munich, Munich 85764, Germany.<br /><searchLink fieldCode="AU" term="%22Musacchio+T%22">Musacchio T</searchLink>; Department of Neurology, University Hospital of Würzburg, Wurzburg 97080, Germany.; Center for Rare Diseases, University Hospital of Würzburg, Wurzburg 97080, Germany.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Ostrozovicova+M%22">Ostrozovicova M</searchLink>; Department of Neurology, P.J. Safarik University, Kosice 4001, Slovakia.; Department of Neurology, University Hospital of L. Pasteur, Kosice 4001, Slovakia.<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 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.<br /><searchLink fieldCode="AU" term="%22Prihodova+I%22">Prihodova I</searchLink>; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine Charles University and General University Hospital in Prague, Prague 12108, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Rektorova+I%22">Rektorova I</searchLink>; Brain and Mind Research Program, CEITEC, Masaryk University, Brno 62500, Czech Republic.; First Department of Neurology, St. Anne's University Hospital and Faculty of Medicine, Masaryk University, Brno 62500, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Romito+LM%22">Romito LM</searchLink>; Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy.<br /><searchLink fieldCode="AU" term="%22Rybanska+B%22">Rybanska B</searchLink>; Faculty of Medicine, Department of Pediatric Neurology, Comenius University, University Hospital Bratislava and National Institute of Children's Diseases, Bratislava 83340, Slovakia.<br /><searchLink fieldCode="AU" term="%22Sadr-Nabavi+A%22">Sadr-Nabavi A</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.; Faculty of Medicine, Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad 9177948564, Iran.; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad 9177948564, Iran.; Faculty of Medicine, Department of Neurology, Mashhad University of Medical Sciences, Qaem Medical Center, Mashhad 9177948564, Iran.; Academic Center for Education, Culture and Research (ACECR)-Khorasan Razavi, Mashhad 9177948564, Iran.<br /><searchLink fieldCode="AU" term="%22Schwenger+S%22">Schwenger S</searchLink>; kbo-Kinderzentrum München, Munich 81377, Germany.<br /><searchLink fieldCode="AU" term="%22Shoeibi+A%22">Shoeibi A</searchLink>; Faculty of Medicine, Department of Neurology, Mashhad University of Medical Sciences, Qaem Medical Center, Mashhad 9177948564, Iran.<br /><searchLink fieldCode="AU" term="%22Sitzberger+A%22">Sitzberger A</searchLink>; Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-Universität, Munich 80337, Germany.<br /><searchLink fieldCode="AU" term="%22Smirnov+D%22">Smirnov D</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.<br /><searchLink fieldCode="AU" term="%22Svantnerova+J%22">Svantnerova J</searchLink>; Faculty of Medicine, Second Department of Neurology, Comenius University, University Hospital Bratislava, Bratislava 83340, Slovakia.<br /><searchLink fieldCode="AU" term="%22Tautanova+R%22">Tautanova R</searchLink>; Department of Neurosurgery, Medical Centre Hospital of the President's Affairs Administration of the Republic of Kazakhstan, Astana E495, Kazakhstan.<br /><searchLink fieldCode="AU" term="%22Toelle+SP%22">Toelle SP</searchLink>; Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zurich 8008, Switzerland.<br /><searchLink fieldCode="AU" term="%22Ulmanova+O%22">Ulmanova O</searchLink>; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine Charles University and General University Hospital in Prague, Prague 12108, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Vetrini+F%22">Vetrini F</searchLink>; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.<br /><searchLink fieldCode="AU" term="%22Vill+K%22">Vill K</searchLink>; Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-Universität, Munich 80337, Germany.<br /><searchLink fieldCode="AU" term="%22Wagner+M%22">Wagner M</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.; Bavarian Genomes Network for Rare Disorders, Munich 81675, Germany.; Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-Universität, Munich 80337, Germany.<br /><searchLink fieldCode="AU" term="%22Weise+D%22">Weise D</searchLink>; Department of Neurology, Asklepios Fachklinikum Stadtroda, Stadtroda 07646, Germany.; Department of Neurology, University of Leipzig, Leipzig 04103, Germany.<br /><searchLink fieldCode="AU" term="%22Zorzi+G%22">Zorzi G</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Fonzo+A%22">Di Fonzo A</searchLink>; Department of Pathophysiology and Transplantation, Dino Ferrari Center, Neuroscience Section, University of Milan, Milan 20122, Italy.; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan 20122, Italy.<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 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.<br /><searchLink fieldCode="AU" term="%22Berweck+S%22">Berweck S</searchLink>; Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-Universität, Munich 80337, Germany.; Specialist Center for Pediatric Neurology, Neurorehabilitation and Epileptology, Schön Clinic, Vogtareuth 83569, Germany.<br /><searchLink fieldCode="AU" term="%22Mall+V%22">Mall V</searchLink>; kbo-Kinderzentrum München, Munich 81377, Germany.; Chair of Social Pediatrics, Technical University of Munich, Munich 80333, Germany.<br /><searchLink fieldCode="AU" term="%22Boesch+S%22">Boesch S</searchLink>; Department of Neurology, Center for Rare Movement Disorders Innsbruck, Medical University of Innsbruck, Innsbruck 6020, Austria.<br /><searchLink fieldCode="AU" term="%22Schormair+B%22">Schormair B</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, 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 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.; DZKJ, Deutsches Zentrum Für Kinder- und Jugendgesundheit, Munich 80333, Germany.<br /><searchLink fieldCode="AU" term="%22Jech+R%22">Jech R</searchLink>; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine Charles University and General University Hospital in Prague, Prague 12108, Czech Republic.<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 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany.; Bavarian Genomes Network for Rare Disorders, Munich 81675, Germany.; DZPG, Deutsches Zentrum Für Psychische Gesundheit, Munich 80333, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich 81377, Germany.
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  Data: <searchLink fieldCode="JN" term="%220372537%22">Brain : a journal of neurology</searchLink> [Brain] 2025 Aug 01; Vol. 148 (8), pp. 2827-2846.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0372537 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2156 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200068950%22">00068950 </searchLink><i>NLM ISO Abbreviation: </i>Brain <i>Subsets: </i>MEDLINE
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        Value: 10.1093/brain/awaf059
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      – TitleFull: Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
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          Dates:
            – D: 01
              M: 08
              Text: 2025 Aug 01
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1460-2156
          Numbering:
            – Type: volume
              Value: 148
            – Type: issue
              Value: 8
          Titles:
            – TitleFull: Brain : a journal of neurology
              Type: main
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