-
Kuchel, PW, Berthon, HA, Bubb, WA, McIntyre, LM, Nygh, NK, Thorburn, DR. 13C and 31P NMR studies of the pentose phosphate pathway in human erythrocytes..
Biomedica Biochimica Acta
49(2-3)
:
s105 -s110
1990
view publication
-
Coughlan, MT, Higgins, GC, Nguyen, T-V, Penfold, SA, Thallas-Bonke, V, Tan, SM, Ramm, G, Van Bergen, NJ, Henstridge, DC, Sourris, KC, et al. Deficiency in Apoptosis-Inducing Factor Recapitulates Chronic Kidney Disease via Aberrant Mitochondrial Homeostasis.
Diabetes
65(4)
:
1085 -1098
2016
view publication
-
Lieber, DS, Calvo, SE, Shanahan, K, Slate, NG, Liu, S, Hershman, SG, Gold, NB, Chapman, BA, Thorburn, DR, Berry, GT, et al. Targeted exome sequencing of suspected mitochondrial disorders.
Neurology
80(19)
:
1762 -1770
2013
view publication
-
Rojo, DC, Hamiwka, L, McMahon, JM, Dibbens, LM, Arsov, T, Suls, A, Stödberg, T, Kelley, K, Wirrell, E, Appleton, B, et al. De novo SCN1A mutations in migrating partial seizures of infancy.
Neurology
77(4)
:
380 -383
2011
view publication
-
Takakubo, F, Thorburn, DR, Hans-Henrik, , Dahl, M. A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1)..
Human Molecular Genetics
2(11)
:
1961 -1962
1993
view publication