DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia

Author:

Ng Joanne12,Cortès‐Saladelafont Elisenda1,Abela Lucia1,Termsarasab Pichet34ORCID,Mankad Kshitij5,Sudhakar Sniya5,Gorman Kathleen M.16,Heales Simon J.R.7,Pope Simon7,Biassoni Lorenzo5,Csányi Barbara1,Cain John8,Rakshi Karl9,Coutts Helen9,Jayawant Sandeep10,Jefferson Rosalind11,Hughes Deborah12,García‐Cazorla Àngels13,Grozeva Detelina1415,Raymond F. Lucy1415,Pérez‐Dueñas Belén116,De Goede Christian17,Pearson Toni S.318,Meyer Esther1,Kurian Manju A.16

Affiliation:

1. Molecular Neurosciences, Developmental Neurosciences Programme UCL Great Ormond Street Institute of Child Health London United Kingdom

2. Gene Transfer Technology Group UCL Institute for Women's Health London United Kingdom

3. Department of Neurology Icahn School of Medicine at Mount Sinai New York USA

4. Division of Neurology, Department of Medicine, Faculty of Medicine Ramathibodi Hospital Mahidol University Bangkok Thailand

5. Department of Radiology Great Ormond Street Hospital for Children NHS Foundation Trust London United Kingdom

6. Department of Neurology Great Ormond Street Hospital for Children NHS Foundation Trust London United Kingdom

7. Neurometabolic Unit National Hospital for Neurology and Neurosurgery London United Kingdom

8. Department of Nuclear Medicine and Imaging Lancashire Teaching Hospitals, NHS Foundation Trust Preston United Kingdom

9. Department of Paediatrics East Lancashire Hospital NHS Trust Lancashire United Kingdom

10. Department of Paediatric Neurology John Radcliffe Hospital, Oxford University, NHS Foundation Trust London United Kingdom

11. Department of Paediatrics Royal Berkshire Hospital, NHS Foundation Trust Reading United Kingdom

12. Molecular Neuroscience and Reta Lila Weston Laboratories Institute of Neurology Queen Square London United Kingdom

13. Department of Neurology Neurometabolic Unit and CIBERER Hospital Sant Joan de Déu, Esplugues de Llobregat Barcelona Spain

14. Medical Genetics Cambridge Institute for Medical Research, University of Cambridge Cambridge United Kingdom

15. UK10K Project, Wellcome Trust Sanger Institute Hinxton Cambridge United Kingdom

16. Hospital Vall d'Hebron, Institut de Recerca (VHIR) Barcelona Spain

17. Department of Paediatric Neurology Royal Preston Hospital, Lancashire Teaching Hospitals, NHS Foundation Trust London United Kingdom

18. Department of Neurology Washington University School of Medicine St. Louis Missouri USA

Funder

Dystonia Medical Research Foundation

Rosetrees Trust

Makerere University

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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