GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

Author:

Foley A. Reghan1ORCID,Zou Yaqun1,Dunford James E.2,Rooney Jachinta1,Chandra Goutam3,Xiong Hui4,Straub Volker5,Voit Thomas6,Romero Norma78,Donkervoort Sandra1,Hu Ying1,Markello Thomas9,Horn Adam3,Qebibo Leila10,Dastgir Jahannaz111,Meilleur Katherine G.112,Finkel Richard S.1314,Fan Yanbin4,Mamchaoui Kamel7,Duguez Stephanie715,Nelson Isabelle7,Laporte Jocelyn16ORCID,Santi Mariarita17,Malfatti Edoardo71819,Maisonobe Thierry20,Touraine Philippe21,Hirano Michio22,Hughes Imelda23,Bushby Kate5,Oppermann Udo22425,Böhm Johann16ORCID,Jaiswal Jyoti K.326ORCID,Stojkovic Tanya27,Bönnemann Carsten G.1ORCID

Affiliation:

1. Neuromuscular and Neurogenetic Disorders of Childhood Section National Institute of Neurological Disorders and Stroke, National Institutes of Health Bethesda Maryland USA

2. Botnar Research Centre, National Institute for Health Research Biomedical Research Centre Oxford University of Oxford Oxford United Kingdom

3. Children's National Health System Center for Genetic Medicine Research Washington District of Columbia USA

4. Department of Pediatrics Peking University First Hospital Beijing China

5. Institute of Genetic Medicine International Centre for Life Newcastle upon Tyne United Kingdom

6. Great Ormond Street Hospital Biomedical Research Centre Great Ormond Street Institute of Child Health, University College London London United Kingdom

7. National Institute of Health and Medical Research U974, Sorbonne University Institute of Myology, APHP Paris France

8. Neuromuscular Morphology Unit Institute of Myology, Pitié‐Salpêtrière Hospital Paris France

9. National Institutes of Health Undiagnosed Diseases Program National Human Genome Research Institute Bethesda Maryland USA

10. Unit of Medical Genetics and Oncogenetics University Hospital Fes Morocco

11. Department of Pediatric Neurology Goryeb Children's Hospital Morristown New Jersey USA

12. Biogen Cambridge Massachusetts USA

13. Division of Neurology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

14. Translational Neuroscience Program St. Jude Children’s Research Hospital Memphis Tennessee USA

15. School of Biomedical Sciences Ulster University Derry United Kingdom

16. Institute of Genetics and Molecular and Cellular Biology, National Institute of Health and Medical Research U1258, National Center for Scientific Research UMR7104 University of Strasbourg Illkirch France

17. Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

18. U1179 University of Versailles Saint‐Quentin‐en‐Yvelines‐National Institute of Health and Medical Research Paris‐Saclay University Versailles France

19. Neurology Department, Reference Center for Neuromuscular Diseases North/East/Ile de France Raymond‐Poincaré University Hospital Garches France

20. Department of Clinical Neurophysiology Pitié‐Salpêtrière Hospital Paris France

21. Department of Endocrinology and Reproductive Medicine, Faculty of Medicine, Sorbonne University, Pitié‐Salpêtrière Hospital, APHP Reference Center for Rare Endocrine Diseases of Growth and Development and Reference Center for Rare Gynecologic Disorders Paris France

22. Department of Neurology, H. Houston Merritt Neuromuscular Research Center Columbia University Medical Center New York New York USA

23. Department of Paediatric Neurology Royal Manchester Children's Hospital Manchester United Kingdom

24. Structural Genomics Consortium University of Oxford Oxford United Kingdom

25. Freiburg Institute of Advanced Studies University of Freiburg Freiburg Germany

26. Department of Genomics and Precision Medicine George Washington University School of Medicine and Health Sciences Washington District of Columbia USA

27. Faculty of Medicine, Sorbonne University, Pitié‐Salpêtrière Hospital, APHP Reference Center for Neuromuscular Diseases North/East/Ile de France Paris France

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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