-
Miller, DK, Menezes, MJ, Simons, C, Riley, LG, Cooper, ST, Grimmond, SM, Thorburn, DR, Christodoulou, J, Taft, RJ. Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient.
PLOS ONE
9(8)
:
e104879
2014
view publication
-
Guo, Y, Menezes, MJ, Menezes, MP, Liang, J, Li, D, Riley, LG, Clarke, NF, Andrews, PI, Tian, L, Webster, R, et al. Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.
Neuromuscular Disorders
25(3)
:
257 -261
2014
view publication
-
Biggin, A, Henke, R, Bennetts, B, Thorburn, DR, Christodoulou, J. Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.
Molecular Genetics and Metabolism
84(1)
:
61 -74
2004
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.
32:
117 -124
2016
view publication
-
Hershman, SG, Tucker, EJ, Köhrer, C, Belcher-Timme, CA, Patel, J, Goldberger, OA, Christodoulou, J, Silberstein, JM, McKenzie, M, Ryan, MT, et al. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
Mitochondrion
12(5)
:
583
2012
view publication