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Wright, DJ, Renoir, T, Smith, ZM, Frazier, AE, Francis, PS, Thorburn, DR, McGee, SL, Hannan, AJ, Gray, LJ.
N-Acetylcysteine improves mitochondrial function and ameliorates behavioral deficits in the R6/1 mouse model of Huntington's disease..
Transl Psychiatry
5(1)
:
e492
2015
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Thorburn, DR.
Mitochondrial disorders in australasian children: from enzymes and metabolites to genes.
Pathology
47:
s29 -s30
2015
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van Dongen, S, Brown, RM, Brown, GK, Thorburn, DR, Boneh, A.
Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment..
JIMD Rep
15:
13 -27
2015
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Euro, L, Konovalova, S, Asin-Cayuela, J, Tulinius, M, Griffin, H, Horvath, R, Taylor, RW, Chinnery, PF, Schara, U, Thorburn, DR, et al.
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation..
Front Genet
6:
21
2015
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Brecht, M, Richardson, M, Taranath, A, Grist, S, Thorburn, D, Bratkovic, D.
Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia..
JIMD Rep
19:
95 -100
2015
view publication