NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Author:

Van Bergen Nicole J12,Guo Yiran3,Rankin Julia45,Paczia Nicole6,Becker-Kettern Julia6,Kremer Laura S78,Pyle Angela9,Conrotte Jean-François6,Ellaway Carolyn101112,Procopis Peter1213,Prelog Kristina14,Homfray Tessa15,Baptista Júlia45,Baple Emma45,Wakeling Matthew4,Massey Sean1,Kay Daniel P6,Shukla Anju16,Girisha Katta M16,Lewis Leslie E S17,Santra Saikat18,Power Rachel19,Daubeney Piers1920,Montoya Julio21,Ruiz-Pesini Eduardo21,Kovacs-Nagy Reka722,Pritsch Martin23,Ahting Uwe7,Thorburn David R1224,Prokisch Holger78,Taylor Robert W9,Christodoulou John12101124,Linster Carole L6,Ellard Sian45,Hakonarson Hakon3

Affiliation:

1. Murdoch Children’s Research Institute, Royal Children’s Hospital, Parkville, Melbourne, Australia

2. Department of Paediatrics, University of Melbourne, Parkville, Melbourne, Australia

3. Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, PA USA

4. University of Exeter Medical School, Exeter, UK

5. Royal Devon Exeter NHS Foundation Trust, Exeter, UK

6. Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg

7. Institute of Human Genetics, Technische Universität München, Munich, Germany

8. Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany

9. Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK

10. Western Sydney Genetics Program, Children’s Hospital at Westmead, Sydney, Australia

11. Discipline of Genetic Medicine, University of Sydney, Sydney, Australia

12. Neurology Department, Children’s Hospital at Westmead, Sydney, Australia

13. Discipline of Child and Adolescent Health, University of Sydney, Australia

14. Medical Imaging Department, Children’s Hospital at Westmead, Sydney, Australia

15. Royal Brompton and St George’s University Hospital, London, UK

16. Department of Medical Genetics, Kasturba Medical College and Hospital, Manipal Academy of Higher Education, Manipal, India

17. Department of Paediatrics, Kasturba Medical College and Hospital, Manipal Academy of Higher Education, Manipal, India

18. Birmingham Children’s Hospital, Birmingham, UK

19. Royal Brompton Hospital, London, UK

20. National Heart and Lung Institute, Imperial College, London, UK

21. Departamento de Bioquimica y Biologia Molecular y Celular- CIBER de Enfermedades Raras (CIBERER)-Instituto de Investigación Sanitaria de Aragón (IISAragon), Universidad Zaragoza, Zaragoza, Spain

22. Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary

23. Department of Pediatric Neurology, DRK-Childrens-Hospital, Siegen, Germany

24. Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, Australia

Funder

Lions International Club Esch-sur-Alzette

Murdoch Children’s Research Institute

Victorian Government’s Operational Infrastructure Support Program

AFR-PhD

CORE

Fonds National de la Recherche Luxembourg

Children’s Hospital of Philadelphia

Aevi Genomic Medicine Inc

German Bundesministerium für Bildung und Forschung

BMBF

E-Rare project GENOMIT

EU Horizon2020 Collaborative Research Project SOUND

Instituto de Salud Carlos III

Departamento de Ciencia, Tecnología y Universidad del Gobierno de Aragón

Wellcome Centre for Mitochondrial Research

Medical Research Council

MRC

Centre for Translational Research in Neuromuscular Disease and Mitochondrial Disease Patient Cohort

Lily Foundation

UK NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children

Wellcome Trust Senior Investigator

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

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