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Rose, LVT, Rose, NT, Elder, JE, Thorburn, DR, Boneh, A.
Ophthalmologic presentation of oxidative phosphorylation diseases of childhood..
Pediatr Neurol
38(6)
:
395 -397
2008
view publication
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Sexton, AC, Sahhar, M, Thorburn, DR, Metcalfe, SA.
Impact of a genetic diagnosis of a mitochondrial disorder 5-17 years after the death of an affected child..
J Genet Couns
17(3)
:
261 -273
2008
view publication
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Hunter, M, Mackay, MT, Peters, H, Salemi, R, Thorburn, D.
401: Alpers Syndrome with POLG mutations: clinical, EEG and radiological features.
Journal of Clinical Neuroscience
15(3)
:
341
2008
view publication
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Wiltshire, E, Davidzon, G, DiMauro, S, Akman, HO, Sadleir, L, Haas, L, Zuccollo, J, McEwen, A, Thorburn, DR.
Juvenile Alpers disease..
Arch Neurol
65(1)
:
121 -124
2008
view publication
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McKenzie, M, Lazarou, M, Dunning, CJR, Sugiana, C, Thorburn, DR, Ryan, MT.
2 Mitochondrial and nuclear encoded subunit assembly into Complex I and assembly defects in mitochondrial disease.
Mitochondrion
7(6)
:
404
2007
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