Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome

Author:

van Hasselt Peter1,Barić Ivo2,Burlina Alberto3,Darin Niklas4,Hörster Friederike5,Coker Mahmut6,Kalkan Ucar Sema6,Krumina Zita7,Naess Karin8,Ngu Lock9,Pronicka Ewa10,Riordan Gilian11,Santer Rene12,Wassmer Evangeline13,Zschocke Johannes14,Schiff Manuel15,de Meirleir Linda16,Alowain Mohammed17,Smeitink Jan18,Morava Eva19,Kozicz Tamas20,Wevers Ron21,Wolf Nicole22,Willemsen Michel23,Wortmann Saskia18

Affiliation:

1. Department of Metabolic Diseases, Wilhelmina Children's Hospital Utrecht, University Medical Center Utrecht, Utrecht, The Netherlands

2. Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb, Croatia

3. Division of Inherited Metabolic Diseases, Department of Pediatrics, University Hospital of Padua, Padua, Italy

4. Department of Pediatrics, University of Gothenburg, The Queen Silvia's Children Hospital, Gothenburg, Sweden

5. Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children's Hospital Heidelberg, Heidelberg, Germany

6. Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey

7. Medical Genetics Clinic, Children's University Hospital, Riga, Latvia

8. Department of Pediatric Neurology, Karolinska University Hospital, Stockholm, Sweden

9. Division of Clinical Genetics, Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia

10. Department of Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland

11. Department of Pediatric Neurology, Red Cross War Memorial Children's Hospital and University of Cape Town, South Africa

12. Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

13. Birmingham Children's Hospital, Birmingham, United Kingdom

14. Division of Human Genetics, Innsbruck Medical University, Innsbruck, Austria

15. Reference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, INSERM U1141 and Université Paris-Diderot, Sorbonne Paris Cité, Paris, France

16. Pediatric Neurology and Metabolic Diseases, Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel (VUB), Brussels, Belgium

17. Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

18. Department of Pediatrics, Radboudumc Amalia Children's Hospital, Nijmegen, The Netherlands

19. Hayward Genetics Center and Department of Pediatrics, Tulane University Medical School, New Orleans, LA, United States

20. Department of Anatomy, Radboudumc, Nijmegen, The Netherlands

21. Department of Laboratory Medicine, Laboratory of Genetic, Endocrine and Metabolic Diseases (LGEM), Radboudumc, Nijmegen, The Netherlands

22. Department of Child Neurology, VU University Medical Center, and Neuroscience Campus Amsterdam, Amsterdam, The Netherlands

23. Department of Neurology, Radboudumc, Nijmegen, The Netherlands

Publisher

Georg Thieme Verlag KG

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

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