-
Alodaib, A, Sobreira, N, Gold, WA, Riley, LG, Van Bergen, NJ, Wilson, MJ, Bennetts, B, Thorburn, DR, Boehm, C, Christodoulou, J.
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease..
Eur J Hum Genet
25(1)
:
79 -84
2017
view publication
-
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