Expanding the phenotypic spectrum of BCS1L ‐related mitochondrial disease

Author:

Hikmat Omar12ORCID,Isohanni Pirjo34ORCID,Keshavan Nandaki56,Ferla Matteo P.7,Fassone Elisa5,Abbott Mary‐Alice8,Bellusci Marcello910,Darin Niklas11,Dimmock David12,Ghezzi Daniele1314ORCID,Houlden Henry15,Invernizzi Federica13,Kamarus Jaman Nazreen B.6,Kurian Manju A.16,Morava Eva1718ORCID,Naess Karin1920,Ortigoza‐Escobar Juan Darío2122,Parikh Sumit23,Pennisi Alessandra24,Barcia Giulia24,Tylleskär Karin B.1,Brackman Damien1,Wortmann Saskia B.2526,Taylor Jenny C.7,Bindoff Laurence A.227,Fellman Vineta32829,Rahman Shamima56ORCID

Affiliation:

1. Department of Paediatrics and Adolescent Medicine Haukeland University Hospital Bergen 5021 Norway

2. Department of Clinical Medicine (K1) University of Bergen Norway

3. Children's Hospital University of Helsinki and Helsinki University Hospital Helsinki Finland

4. Stem Cells and Metabolism Research Program Faculty of Medicine University of Helsinki Helsinki Finland

5. Mitochondrial Research Group UCL Great Ormond Street Institute of Child Health London UK

6. Metabolic Unit Great Ormond Street Hospital for Children NHS Foundation Trust London UK

7. NIHR Oxford Biomedical Research Centre Wellcome Centre for Human Genetics University of Oxford Oxford UK

8. Medical Genetics Department of Pediatrics UMass Chan Medical School Baystate USA

9. Reference Center for Hereditary Metabolic Disorders ‐ MetabERN ‘12 de Octubre’ University Hospital Madrid Spain

10. Instituto de Investigación Hospital 12 de Octubre (imas12) Madrid Spain

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

12. Rady Children’s Institute for Genomic Medicine San Diego California USA

13. Unit of Medical Genetics and Neurogenetics Fondazione IRCCS Istituto Neurologico Carlo Besta Milan 20126 Italy

14. Department of Pathophysiology and Transplantation University of Milan Milan Italy

15. Department of Molecular Neuroscience UCL Queen Square Institute of Neurology London United Kingdom

16. Neurogenetics Group Developmental Neurosciences Zayed Centre for Research into Rare Diseases in Children UCL Great Ormond Street Institute of Child Health London UK

17. Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA

18. Metabolic Center University Hospitals Leuven Leuven 3000 Belgium

19. Centre for Inherited Metabolic Diseases Karolinska University Hospital Stockholm Sweden

20. Department of Medical Biochemistry and Biophysics Karolinska Institutet Stockholm Sweden

21. Movement Disorders Unit Institut de Recerca Sant Joan de Déu CIBERER‐ISCIII Barcelona Spain

22. European Reference Network for Rare Neurological Diseases (ERN‐RND) Barcelona Spain

23. Neuroscience Institute Cleveland Clinic Cleveland OH USA

24. Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL) Necker ‐ Enfants Malades Hospital Paris France

25. University Children’s Hospital Paracelsus Medical University Salzburg Austria

26. Radboud Center for Mitochondrial Medicine (RCMM) Amalia Children’s Hospital, Radboudumc Nijmegen The Netherlands

27. Neuro‐SysMed Center of Excellence for Clinical Research in Neurological Diseases Department of Neurology Haukeland University Hospital Bergen 5021 Norway

28. Folkhälsan Research Center Helsinki Finland

29. Department of Clinical Sciences Lund University Paediatrics Sweden

Funder

Wellcome

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

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