-
Compton, AG, Troedson, C, Wilson, M, Procopis, PG, Li, F-Y, Brundage, EK, Yamazaki, T, Thorburn, DR, Wong, L-JC.
Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.
Mitochondrion
11(1)
:
104 -107
2011
view publication
-
Tucker, EJ, Compton, AG, Calvo, SE, Thorburn, DR.
The molecular basis of human complex I deficiency.
IUBMB Life
63(9)
:
669 -677
2011
view publication
-
Tucker, EJ, Compton, AG, Thorburn, DR.
Recent Advances in the Genetics of Mitochondrial Encephalopathies.
Current Neurology and Neuroscience Reports
10(4)
:
277 -285
2010
view publication
-
Riley, LG, Cooper, S, Hickey, P, Rudinger-Thirion, J, McKenzie, M, Compton, A, Lim, SC, Thorburn, D, Ryan, MT, Giegé, R, et al.
Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome.
American Journal of Human Genetics
87(1)
:
52 -59
2010
view publication
-
Compton, AG, Albrecht, DE, Seto, JT, Cooper, ST, Ilkovski, B, Jones, KJ, Challis, D, Mowat, D, Ranscht, B, Bahlo, M, et al.
Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy.
American Journal of Human Genetics
83(6)
:
714 -724
2008
view publication