Phenotypic continuum of NFU1 ‐related disorders

Author:

Kaiyrzhanov Rauan1ORCID,Zaki Maha S.2,Lau Tracy1ORCID,Sen Sambuddha3,Azizimalamiri Reza4,Zamani Mina5,Sayin Gözde Yeşil6,Hilander Taru7,Efthymiou Stephanie1,Chelban Viorica1ORCID,Brown Ruth8,Thompson Kyle9,Scarano Maria Irene10,Ganesh Jaya11,Koneev Kairgali12,Gülaçar Ismail Musab613,Person Richard14,Sadykova Dinara15,Maidyrov Yerdan12,Seifi Tahereh5,Zadagali Aizhan16,Bernard Geneviève171819,Allis Katrina14,Elloumi Houda Zghal14,Lindy Amanda14,Taghiabadi Ehsan20,Verma Sumit21ORCID,Logan Rachel22,Kirmse Brian23,Bai Renkui14,Khalaf Shaimaa M.24,Abdel‐Hamid Mohamed S.25,Sedaghat Alireza26,Shariati Gholamreza2728,Issa Mahmoud2ORCID,Zeighami Jawaher28,Elbendary Hasnaa M.2,Brown Garry8,Taylor Robert W.929,Galehdari Hamid5,Gleeson Joseph J.3031,Carroll Christopher J.7,Cowan James A.3,Moreno‐De‐Luca Andres32ORCID,Houlden Henry1,Maroofian Reza1

Affiliation:

1. Department of Neuromuscular Disorders UCL Queen Square Institute of Neurology London WC1N 3BG UK

2. Human Genetics and Genome Research Division, Clinical Genetics Department National Research Centre Cairo Egypt

3. Department of Chemistry and Biochemistry The Ohio State University 100 West 18th Avenue Columbus Ohio 43210 USA

4. Department of Paediatric Neurology, Golestan, Medical, Educational, and Research Center Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran

5. Department of Biology, Faculty of Science Shahid Chamran University of Ahvaz Ahvaz Iran

6. Department of Medical Genetics, Istanbul Faculty of Medicine Istanbul University Istanbul 34098 Turkey

7. Genetics Section, Molecular and Clinical Sciences St George's, University of London London UK

8. Oxford Medical Genetics Laboratories The Churchill Hospital Oxford OX3 7LJ UK

9. Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute Faculty of Medical Sciences Newcastle University Newcastle upon Tyne NE2 4HH UK

10. Division of Genetics, Cooper Health System Children's Regional Hospital Sheridan Pavilion Camden New Jersy 08103 USA

11. Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New York USA

12. Department of Neurology and Neurosurgery Asfendiyarov Kazakh National Medical University Almaty 050000 Kazakhstan

13. Department of Genetics Institute of Graduate Studies in Health Sciences, Istanbul University Istanbul 34098 Turkey

14. GeneDx Gaithersburg Maryland 20877 USA

15. Astana Medical University Nur‐Sultan Kazakhstan

16. L.N. Gumilyov Eurasian National University Nur‐Sultan Kazakhstan

17. Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics McGill University Montreal Canada

18. Division of Medical Genetics, Department Specialized Medicine McGill University Health Centre Montreal Canada

19. Child Health and Human Development Program Research Institute of the McGill University Health Centre Montreal Canada

20. Skin and Stem Cell Research Center, Tehran University of Medical Sciences Tehran Iran

21. Department of Neurology Emory University School of Medicine Georgia Atlanta USA

22. Division of Neurosciences Children's Healthcare of Atlanta Atlanta Georgia USA

23. Division of Genetics University of Mississippi Medical Center Jackson Mississippi USA

24. Pediatrics Department Assiut University Assiut Egypt

25. Medical Molecular Genetics Department Human Genetics and Genome Research Institute, National Research Centre Cairo Egypt

26. Health Research Institute, Diabetes Research Center Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran

27. Department of Medical Genetics, Faculty of Medicine Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran

28. Narges Medical Genetics and Prenatal Diagnosis Laboratory East Mihan Ave., Kianpars Ahvaz Iran

29. NHS Highly Specialised Service for Rare Mitochondrial Disorders Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne NE1 4LP UK

30. Department of Neurosciences University of California, San Diego La Jolla California 92093 USA

31. Rady Children's Institute for Genomic Medicine San Diego California 92025 USA

32. Department of Radiology Autism & Developmental Medicine Institute, Genomic Medicine Institute Geisinger Danville Pennsylvania 17822 USA

Funder

Medical Research Council

The Wellcome Trust DBT India Alliance

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

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