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
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