Kishore R Kumar1,2,3,4, Andrea Cortese5,6, Susan E Tomlinson3,7, Stephanie Efthymiou5, Melina Ellis8, Danqing Zhu1, Marion Stoll1, Natalia Dominik5, Stephen Tisch7,9, Michel Tchan3,10, Kathy H C Wu9,11,12, Sophie Devery11, Penelope J Spring2, Simon Hawke3,13,14, Phillip Cremer3,15, Karl Ng3,15, Mary M Reilly5, Garth A Nicholson1,2,3,8, Henry Houlden5, Marina Kennerson1,3,8. 1. Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia. 2. Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia. 3. Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia. 4. Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia. 5. Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK. 6. Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. 7. Department of Neurology, St Vincent's Hospital, Darlinghurst, Sydney, Australia. 8. Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, Australia. 9. School of Medicine, University of New South Wales, Sydney, Australia. 10. Department of Genetic Medicine, Westmead Hospital, Westmead, NSW, 2145, Australia. 11. St Vincent's Clinical Genomics, St Vincent's Hospital, Sydney, Australia. 12. Discipline of Genetic Medicine, University of Sydney, Sydney, Australia. 13. Vascular Immunology Unit Department of Pathology, The University of Sydney, Sydney, NSW Australia. 14. Central West Neurology and Neurosurgery, Orange, NSW Australia. 15. Royal North Shore Hospital, Pacific Hwy, St Leonards, NSW 2065, Australia.
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