R. Pitceathly

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

V. Mootha, S. Pearce, C. Powell, 2020, medRxiv.

Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports

Gareth Jones, A. Salama, M. Harber, 2020, BMC Nephrology.

Interventions for dysphagia in long-term, progressive muscle disease.

M. Rose, K. Jones, T. Hughes, 2016, The Cochrane database of systematic reviews.

Corneal confocal microscopy: A novel means to detect nerve fibre damage in idiopathic small fibre neuropathy

Nathan Efron, David Gow, Rayaz A. Malik, 2009, Experimental Neurology.

Copper deficiency: an unusual case of myelopathy with neuropathy

R. Pitceathly, J. Sussman, O. Jumma, 2008, Annals of clinical biochemistry.

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

A. Singleton, J. Hardy, D. Trabzuni, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Interventions for dysphagia in long-term, progressive muscle disease.

M. Rose, K. Jones, T. Hughes, 2016, The Cochrane database of systematic reviews.

A dizzy and disorientated DJ

S. Rinaldi, R. Pitceathly, M. E. Roberts, 2011, Practical Neurology.