Compound heterozygousFXNmutations and clinical outcome in friedreich ataxia

Author:

Galea Charles A.12,Huq Aamira2,Lockhart Paul J.23,Tai Geneieve2,Corben Louise A.234,Yiu Eppie M.235,Gurrin Lyle C.6,Lynch David R.7,Gelbard Sarah7,Durr Alexandra8910,Pousset Francoise11,Parkinson Michael12,Labrum Robyn13,Giunti Paola1213,Perlman Susan L.14,Delatycki Martin B.23415,Evans-Galea Marguerite V.23

Affiliation:

1. Medicinal Chemistry and Drug Delivery, Disposition and Dynamics (D4), Monash Institute of Pharmaceutical Sciences; Monash University; Parkville Victoria Australia

2. Bruce Lefroy Centre; Murdoch Childrens Research Institute; Parkville Victoria Australia

3. Department of Paediatrics; The University of Melbourne, Royal Children's Hospital; Parkville Victoria Australia

4. School of Psychological Sciences; Monash University; Clayton Victoria Australia

5. Department of Neurology; Royal Children's Hospital; Parkville Victoria Australia

6. Center for Epidemiology and Biostatistics, Melbourne School of Population and Global Health; The University of Melbourne; Melbourne Victoria Australia

7. Departments of Neurology and Pediatrics; University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia; Philadelphia PA

8. APHP, Department of Genetics and Cytogenetics; Groupe Hospitalier Pitié-Salpêtrière; Paris France

9. Institut du Cerveau et de la Moelle épinière (ICM); Pitié-Salpêtrière University Hospital; Paris France

10. Inserm U 1127, CNRS UMR 7225; Sorbonne Universités, UPMC Université Paris 06 UMR S_1127, ICM; F-75013 France

11. APHP, Cardiology Department; AP-HP Pitie-Salpétrière Hospital; Paris France

12. Department of Molecular Neuroscience; University College London Institute of Neurology; London United Kingdom

13. Department of Neurogenetics; University College London Hospital, Institute of Neurology; London United Kingdom

14. Ataxia Center and Huntington Disease Center of Excellence, Department of Neurology; David Geffen School of Medicine at the University of California at Los Angeles; CA

15. Clinical Genetics, Austin Health; Heidelberg Victoria Australia

Funder

National Health and Medical Council of Australia

Friedreich Ataxia Research Alliance USA

Friedreich Ataxia Research Association Australasia

Multiple Sclerosis Research Australia

Victorian Government Operational Infrastructure Support Program

European Union Seventh Framework Program

National Institute for Health Research University College London Hospitals Biomedical Research Center

Publisher

Wiley

Subject

Clinical Neurology,Neurology

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