Details

Role Team Leader / Senior Research Officer

Research area Clinical Sciences

Group Neuroscience

Top Publications

Marsh, APL, Yap, P, Tan, T, Pope, K, White, SM, Chong, B, Mcgillivray, G, Boys, A, Stephenson, SEM, Leventer, RJ, et al. A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. American Journal of Medical Genetics Part A 173(3) : 820 -823 2017
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Ong, SH, Zhang, DC, Sim, CH, Burton, M, Phelan, D, Stephenson, SEM, Wilson, GR, Newgreen, DF, Hannan, AJ, Lockhart, PJ, et al. 374. Developing Bone Marrow Transplant and Lentiviral Vectors to Treat Friedreich Ataxia. Molecular Therapy 24: s149 -s150 2016
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Yiu, EM, Tai, G, Peverill, RE, Lee, KJ, Croft, KD, Mori, TA, Scheiber-Mojdehkar, B, Sturm, B, Praschberger, M, Vogel, AP, et al. An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels. Journal of Neurology 262(5) : 1344 -1353 2015
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Evans-Galea, MV, HweeOng, S, Zhang, D, Burton, M, Sim, CH, Phelan, D, Stephenson, SEM, Wilson, GR, Newgreen, DF, Lockhart, PJ, et al. 395. Developing Bone Marrow Transplant and Lentiviral Vectors for Friedreich Ataxia. Molecular Therapy 23: s157 2015
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Wilson, GR, Sim, JCH, McLean, C, Giannandrea, M, Galea, CA, Riseley, JR, Stephenson, SEM, Fitzpatrick, E, Haas, SA, Pope, K, et al. Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology. American Journal of Human Genetics 95(6) : 729 -735 2014
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