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DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia |
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| Authors: | Joanne Ng MD PhD Elisenda Cortès-Saladelafont MD Lucia Abela MD Pichet Termsarasab MD Kshitij Mankad FRCR Sniya Sudhakar FRCR Kathleen M. Gorman MD Simon J.R. Heales PhD Simon Pope PhD Lorenzo Biassoni MSc FRCP FEBNM Barbara Csányi MD John Cain FRCR PhD Karl Rakshi MBChB Helen Coutts MD Sandeep Jayawant MD FRCPCH Rosalind Jefferson MBBS PhD Deborah Hughes MSc Àngels García-Cazorla MD PhD Detelina Grozeva PhD F. Lucy Raymond MD PhD Belén Pérez-Dueñas MD PhD Christian De Goede MD Toni S. Pearson MD Esther Meyer PhD Manju A. Kurian MD PhD |
| Affiliation: | 1. Molecular Neurosciences, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom Gene Transfer Technology Group, UCL Institute for Women's Health, London, United Kingdom;2. Molecular Neurosciences, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom;3. Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, USA;4. Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom;5. Molecular Neurosciences, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom;6. Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom;7. Department of Nuclear Medicine and Imaging, Lancashire Teaching Hospitals, NHS Foundation Trust, Preston, United Kingdom;8. Department of Paediatrics, East Lancashire Hospital NHS Trust, Lancashire, United Kingdom;9. Department of Paediatric Neurology, John Radcliffe Hospital, Oxford University, NHS Foundation Trust, London, United Kingdom;10. Department of Paediatrics, Royal Berkshire Hospital, NHS Foundation Trust, Reading, United Kingdom;11. Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, Queen Square, London, United Kingdom;12. Department of Neurology, Neurometabolic Unit and CIBERER Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain;13. Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom UK10K Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom;14. Molecular Neurosciences, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom Hospital Vall d'Hebron, Institut de Recerca (VHIR), Barcelona, Spain;15. Department of Paediatric Neurology, Royal Preston Hospital, Lancashire Teaching Hospitals, NHS Foundation Trust, London, United Kingdom;16. Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, USA Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA |
| Abstract: | |
| Keywords: | auxilin DNAJC6 dopamine dystonia parkinsonism |