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- 2019. Mitochondrial DNA depletion in sporadic inclusion body myositis. Neuromuscular Disorders. 242-246.
- 2014. Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLOS ONE.
- 2014. Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. Journal of Neurology. 358-362.
- 2014. Molecular pathogenesis of polymerase gamma-related neurodegeneration. Annals of Neurology. 66-81.
- 2013. Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations. Brain. 2393-2404.
- 2013. Progressive striatal necrosis associated with anti-NMDA receptor antibodies. BMC Neurology. 4 pages.
- 2012. Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene. Journal of Neurology. 292-296.
- 2012. Polymerase gamma (POLG) associated encephalopathy is characterised by neuronal mtDNA depletion and respiratory complex-I deficiency. European Journal of Neurology. 63-63.
- 2012. Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) caused by a novel mutation in DARS2. European Journal of Neurology. 728-728.