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Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.

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Title: Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.
Authors: Peirano E; Department of Biomedical Sciences, University of Padova, Padova, Italy., O'Regan L; School of Biochemistry and Biomedical Sciences, Faculty of Health and Life Sciences, University of Bristol, Bristol, BS8 1TD, UK., Harrer P; School of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Dzinovic I; School of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Chegkazi MS; Randall Centre of Cell and Molecular Biophysics, Faculty of Life Sciences and Medicine, King's College London, London, UK., Havrankova P; Department of Neurology, 1st Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic., Brunet T; School of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Capolino R; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy., Cesario C; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Ferro S; Department of Biomedical Sciences, University of Padova, Padova, Italy., Hammar E; Division of Genetic Medicine, Geneva University Hospitals, Geneva, 1205, Switzerland., Hà-Vinh Leuchter R; Division of Development and Growth, Department of Paediatrics, Gynaecology and Obstetrics, Geneva University Hospitals and University of Geneva, Switzerland., Indelicato E; Centre for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Jacob M; School of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Kunc L; Department of Neurology, 1st Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic., Margot H; Genetic Medicine Service, Department of Diagnostics, Centre for Medical Genomics, Geneva University Hospitals, Geneva, Switzerland., Marin O; Department of Biomedical Sciences, University of Padova, Padova, Italy., Mazurkiewicz-Bełdzińska M; Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland., Mencacci NE; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Orec L; Division of Paediatric Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Poschmann M; Schön Klinik München Harlaching, Munich, Germany., Sitzberger A; Division of Paediatric Neurology and Developmental Medicine and LMU Centre for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-Universität, Munich, Germany., Sorrentino U; School of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Spanjaard M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Wagner M; School of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Division of Paediatric Neurology and Developmental Medicine and LMU Centre for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-Universität, Munich, Germany., Krygier M; Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland., Boesch S; Centre 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., 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., Gilbert DL; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, 45221, USA., Jech R; Department of Neurology, 1st Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic., Dodding M; School of Biochemistry and Biomedical Sciences, Faculty of Health and Life Sciences, University of Bristol, Bristol, BS8 1TD, UK., Steiner RA; Department of Biomedical Sciences, University of Padova, Padova, Italy; Randall Centre of Cell and Molecular Biophysics, Faculty of Life Sciences and Medicine, King's College London, London, UK., Zech M; School of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute for Advanced Study, Technical University of Munich, Garching, Germany. Electronic address: michael.zech@mri.tum.de.
Source: EBioMedicine [EBioMedicine] 2026 Jul; Vol. 129, pp. 106358. Date of Electronic Publication: 2026 Jun 29.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.
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  Data: <searchLink fieldCode="AU" term="%22Peirano+E%22">Peirano E</searchLink>; Department of Biomedical Sciences, University of Padova, Padova, Italy.<br /><searchLink fieldCode="AU" term="%22O'Regan+L%22">O'Regan L</searchLink>; School of Biochemistry and Biomedical Sciences, Faculty of Health and Life Sciences, University of Bristol, Bristol, BS8 1TD, UK.<br /><searchLink fieldCode="AU" term="%22Harrer+P%22">Harrer P</searchLink>; School of Medicine and Health, Institute of Human Genetics, 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>; School of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Chegkazi+MS%22">Chegkazi MS</searchLink>; Randall Centre of Cell and Molecular Biophysics, Faculty of Life Sciences and Medicine, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Havrankova+P%22">Havrankova P</searchLink>; Department of Neurology, 1st Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Brunet+T%22">Brunet T</searchLink>; School of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Capolino+R%22">Capolino R</searchLink>; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Cesario+C%22">Cesario C</searchLink>; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Ferro+S%22">Ferro S</searchLink>; Department of Biomedical Sciences, University of Padova, Padova, Italy.<br /><searchLink fieldCode="AU" term="%22Hammar+E%22">Hammar E</searchLink>; Division of Genetic Medicine, Geneva University Hospitals, Geneva, 1205, Switzerland.<br /><searchLink fieldCode="AU" term="%22Hà-Vinh+Leuchter+R%22">Hà-Vinh Leuchter R</searchLink>; Division of Development and Growth, Department of Paediatrics, Gynaecology and Obstetrics, Geneva University Hospitals and University of Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Indelicato+E%22">Indelicato E</searchLink>; Centre for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Jacob+M%22">Jacob M</searchLink>; School of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Kunc+L%22">Kunc L</searchLink>; Department of Neurology, 1st Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Margot+H%22">Margot H</searchLink>; Genetic Medicine Service, Department of Diagnostics, Centre for Medical Genomics, Geneva University Hospitals, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Marin+O%22">Marin O</searchLink>; Department of Biomedical Sciences, University of Padova, Padova, Italy.<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="%22Mencacci+NE%22">Mencacci NE</searchLink>; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Novelli+A%22">Novelli A</searchLink>; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Orec+L%22">Orec L</searchLink>; Division of Paediatric Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Poschmann+M%22">Poschmann M</searchLink>; Schön Klinik München Harlaching, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Sitzberger+A%22">Sitzberger A</searchLink>; Division of Paediatric Neurology and Developmental Medicine and LMU Centre for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-Universität, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Sorrentino+U%22">Sorrentino U</searchLink>; School of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Spanjaard+M%22">Spanjaard M</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Wagner+M%22">Wagner M</searchLink>; School of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Division of Paediatric Neurology and Developmental Medicine and LMU Centre for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-Universität, Munich, 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="%22Boesch+S%22">Boesch S</searchLink>; Centre for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Necpal+J%22">Necpal J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Skorvanek+M%22">Skorvanek M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Gilbert+DL%22">Gilbert DL</searchLink>; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, 45221, USA.<br /><searchLink fieldCode="AU" term="%22Jech+R%22">Jech R</searchLink>; Department of Neurology, 1st Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Dodding+M%22">Dodding M</searchLink>; School of Biochemistry and Biomedical Sciences, Faculty of Health and Life Sciences, University of Bristol, Bristol, BS8 1TD, UK.<br /><searchLink fieldCode="AU" term="%22Steiner+RA%22">Steiner RA</searchLink>; Department of Biomedical Sciences, University of Padova, Padova, Italy; Randall Centre of Cell and Molecular Biophysics, Faculty of Life Sciences and Medicine, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Zech+M%22">Zech M</searchLink>; School of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute for Advanced Study, Technical University of Munich, Garching, Germany. Electronic address: michael.zech@mri.tum.de.
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  Data: <searchLink fieldCode="JN" term="%22101647039%22">EBioMedicine</searchLink> [EBioMedicine] 2026 Jul; Vol. 129, pp. 106358. <i>Date of Electronic Publication: </i>2026 Jun 29.
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