Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

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Title: Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.
Authors: 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.; Bavarian Genomes Network for Rare Disorders, Technical University of Munich, Munich, Germany.; Helmholtz Association - Munich School for Data Science (MUDS), 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., Brunet T; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Bavarian Genomes Network for Rare Disorders, Technical University of Munich, Munich, Germany., Yépez VA; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; OmicsDiscoveries GmbH, Planegg, Germany., Hölzlwimmer F; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany., Indelicato E; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Assmann B; Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Badmann S; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Bavarian Genomes Network for Rare Disorders, Technical University of Munich, Munich, Germany., Ballhausen D; Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Berweck S; Center of Child Neurology, Developmental Medicine, and Rehabilitation, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland., Brechtmann F; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; OmicsDiscoveries GmbH, Planegg, Germany., Brugger M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Bavarian Genomes Network for Rare Disorders, Technical University of Munich, Munich, Germany., Derderian K; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany., Distelmaier F; Departments of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, 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., Harvanova D; Associated Tissue Bank, Faculty of Medicine, P. J. Safarik University and L. Pasteur University Hospital in Kosice, Kosice, Slovakia., Havrankova P; Department of Neurology, First Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic., Jaroszynski AK; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany., Kolnikova M; Department of Pediatric Neurology, Faculty of Medicine, Comenius University, University Hospital Bratislava and National Institute of Children's Diseases, Bratislava, Slovakia., 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., Koy A; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Krygier M; Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland., Kunc L; Department of Neurology, First Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic., Kusikova K; Department of Pediatric Neurology, Faculty of Medicine, Comenius University, University Hospital Bratislava and National Institute of Children's Diseases, Bratislava, Slovakia., Maier O; Center of Child Neurology, Developmental Medicine, and Rehabilitation, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland., Mazurkiewicz-Bełdzińska M; Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland., Mertes C; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Bavarian Genomes Network for Rare Disorders, Technical University of Munich, Munich, Germany.; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; OmicsDiscoveries GmbH, Planegg, Germany., Oberlack A; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany., Roser T; 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, Germany., 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, Germany., 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., Stehr AM; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany., 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, Germany., Wagner M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Bavarian Genomes Network for Rare Disorders, Technical University of Munich, Munich, 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, 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., Boesch S; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Necpal J; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia.; Parkinsonism and Movement Disorders Treatment Center, Zvolen Hospital, Zvolen, Slovakia.; Department of Neurology, P.J. Safarik University, Kosice, Slovakia., Jech R; Department of Neurology, First Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic., 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.; Bavarian Genomes Network for Rare Disorders, Technical University of Munich, Munich, Germany.; DZPG, Deutsches Zentrum Für Psychische Gesundheit, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany., Graf E; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Bavarian Genomes Network for Rare Disorders, Technical University of Munich, Munich, Germany., Gagneur J; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Helmholtz Association - Munich School for Data Science (MUDS), Munich, Germany.; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany., Skorvanek M; Department of Neurology, P.J. Safarik University, Kosice, Slovakia.; Department of Clinical Neurosciences, P.J. Safarik University, Kosice, Slovakia.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia., 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.; Bavarian Genomes Network for Rare Disorders, Technical University of Munich, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.
Source: Annals of neurology [Ann Neurol] 2026 Jun; Vol. 99 (6), pp. 1363-1378. Date of Electronic Publication: 2026 Feb 02.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1531-8249
DOI:10.1002/ana.78171