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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
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Brown, AL, Sadras, T, Engler, GA, Tunningley, R, Kofler, J, Leo, PJ, Cheah, J, Laskowski, A, Frazier, A, Stroud, D, et al.
An ENU Mutagenesis Screen of FLT3-ITD Knock-in Mice Identifies Novel Gene Mutations That Lead to an Exacerbated Myeloproliferative Neoplasm.
Blood
124(21)
:
3591
2014
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