Authors: Kirby, DM Kahler, SG Freckmann, ML Reddihough, D Thorburn, DR

Citation: Dm. Kirby et al., Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families, ANN NEUROL, 48(1), 2000, pp. 102-104

Authors: Kirby, DM Crawford, M Cleary, MA Dahl, HHM Dennett, X Thorburn, DR

Citation: Dm. Kirby et al., Respiratory chain complex I deficiency - An underdiagnosed energy generation disorder, NEUROLOGY, 52(6), 1999, pp. 1255-1264

Authors: Bruno, C Kirby, DM Koga, Y Garavaglia, B Duran, G Santorelli, FM Shield, LK Xia, WL Shanske, S Goldstein, JD Iwanaga, R Akita, Y Carrara, F Davis, A Zeviani, M Thorburn, DR DiMauro, S

Citation: C. Bruno et al., The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy, J PEDIAT, 135(2), 1999, pp. 197-202

Authors: Mowat, D Kirby, DM Kamath, KR Kan, A Thorburn, DR Christodoulou, J

Citation: D. Mowat et al., Respiratory chain complex in deficiency with pruritus: A novel vitamin responsive clinical feature, J PEDIAT, 134(3), 1999, pp. 352-354

Authors: Kirby, DM Milovac, T Thorburn, DR

Citation: Dm. Kirby et al., A false-positive diagnosis for the common MELAS (A3243G) mutation caused by a novel variant (A3426G) in the ND1 gene of mitochondria DNA, MOL DIAGN, 3(4), 1998, pp. 211-216