-
Nafisinia, M, Guo, Y, Dang, X, Li, J, Chen, Y, Zhang, J, Lake, NJ, Gold, WA, Riley, LG, Thorburn, DR, et al.
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder..
JIMD Rep
32:
117 -124
2017
view publication
-
Balasubramaniam, S, Lewis, B, Mock, DM, Said, HM, Tarailo-Graovac, M, Mattman, A, van Karnebeek, CD, Thorburn, DR, Rodenburg, RJ, Christodoulou, J.
Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)..
JIMD Rep
33:
99 -107
2017
view publication
-
Nafisinia, M, Riley, LG, Gold, WA, Bhattacharya, K, Broderick, CR, Thorburn, DR, Simons, C, Christodoulou, J.
Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction..
PLoS One
12(6)
:
e0178125
2017
view publication
-
Gorman, GS, Chinnery, PF, DiMauro, S, Hirano, M, Koga, Y, McFarland, R, Suomalainen, A, Thorburn, DR, Zeviani, M, Turnbull, DM.
Mitochondrial diseases..
Nat Rev Dis Primers
2:
16080
2016
view publication
-
Stroud, DA, Surgenor, EE, Formosa, LE, Reljic, B, Frazier, AE, Dibley, MG, Osellame, LD, Stait, T, Beilharz, TH, Thorburn, DR, et al.
Accessory subunits are integral for assembly and function of human mitochondrial complex I..
Nature
538(7623)
:
123 -126
2016
view publication