Key Publications

Panosyan, F., Laura, M., Rossor, A., Pisciotta, C., Piscosquito, G., Burns, J., Li, J., Yum, S., Lewis, R., Day, J., et al (2017). Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology, 89(9), 927-935

Wojciechowski, E., Sman, A., Cornett, K., Raymond, J., Refshauge, K., Menezes, M., Burns, J., Cooper, S., North, K., Sandaradura, S., O'Grady, G. (2017). Gait patterns of children and adolescents with Charcot-Marie-Tooth disease. Gait and Posture

Harris, E., Bladen, C., Mayhew, A., James, M., Bettinson, K., Moore, U., Smith, F., Rufibach, L., Cnaan, A., Jones, K., et al (2016). The Clinical Outcome Study for dysferlinopathy: An international multicenter study. Neurology. Genetics, 2(4), 1-10

Cornett, K., Menezes, M., Bray, P., Halaki, M., Shy, R., Yum, S., Estilow, T., Moroni, I., Foscan, M., Pagliano, E., Burns, J., et al (2016). Phenotypic variability of childhood Charcot-Marie-Tooth disease. JAMA Neurology, 73(6), 645-651

Mulroy, E., Ghaoui, R., Hutchinson, D., Rodrigues, M., Lek, M., MacArthur, D., Cooper, S., Clarke, N., Roxburgh, R. (2017). A 'limb-girdle muscular dystrophy' responsive to asthma therapy. Practical Neurology, 17(4), 327-331.

Cooper, S. (2017). Ca2+ and mitochondrial ROS: Both hero and villain in membrane repair. Science Signaling, 10(495), 1-3.

Schofield, D., Alam, K., Douglas, L., Shrestha, R., MacArthur, D., Davis, M., Laing, N., Clarke, N., Burns, J., Cooper, S., Sandaradura, S., O'Grady, G., et al (2017). Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases. Genomic Medicine, 2(4), 1-7.

Piper, A., Ross, S., Redpath, G., Lemckert, F., Woolger, N., Bournazos, A., Greer, P., Sutton, R., Cooper, S. (2017). Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signalling. Cellular Signalling, 33, 30-40.

Gascoigne, M., Smith, M., Barton, B., Webster, R., Gill, D., Lah, S. (2018). Accelerated long-term forgetting and behavioural difficulties in children with epilepsy. Cortex.

Chen, K., Didsbury, M., van Zwieten, A., Howell, M., Kim, S., Tong, A., Howard, K., Nassar, N., Barton, B., Lah, S., Lorenzo, J., Strippoli, G., Teixeira-Pinto, A., Craig, J., Wong, G., et al (2018). Neurocognitive and Educational Outcomes in Children and Adolescents with CKD: A Systematic Review and Meta-Analysis. Clinical Journal of the American Society of Nephrology, 13(3), 387-397.

Ramanathan, S., Mohammad, S., Tantsis, E., Nguyen, T., Merheb, V., Fung, V., White, O., Broadley, S., Lechner-Scott, J., Vucic, S., Henderson, A., Barnett, M., Reddel, S., Brilot-Turville, F., Dale, R. (2018). Clinical course, therapeutic responses and outcomes in relapsing MOG antibody-associated demyelination. Journal of Neurology, Neurosurgery and Psychiatry, 89(2), 127-137.

Waak, M., Mohammad, S., Coman, D., Sinclair, K., Copeland, L., Silburn, P., Coyne, T., McGill, J., O’Regan, M., Selway, R., Dale, R., et al (2018). GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS. Journal of Neurology, Neurosurgery and Psychiatry, 89(2), 221-222.

Mohammad, S., Dale, R. (2018). Principles and approaches to the treatment of immune-mediated movement disorders. European Journal of Paediatric Neurology, 22(2), 292-300.

Graham, D., Gill, D., Dale, R., Tisdall, M. (2018). Seizure outcome after corpus callosotomy in a large paediatric series. Developmental Medicine and Child Neurology, 60(2), 199-206.

Weissert, R., Brilot-Turville, F. (2017). Editorial: Induction of central nervous system disease by the adaptive immune response. Frontiers in Immunology, 8(1218), 1-2.

Pilli, D., Zou, A., Tea, F., Dale, R., Brilot-Turville, F. (2017). Expanding Role of T Cells in Human Autoimmune Diseases of the Central Nervous System. Frontiers in Immunology, 8, 1-17.

Chen, K., Brilot-Turville, F., Dale, R., Lafferty, A., Andrews, P. (2017). Hashimoto's encephalopathy and anti-MOG antibody encephalitis: 50 years after Lord Brain's description. European Journal of Paediatric Neurology, 21(6), 898-901.