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Bruno, C, Kirby, DM, Koga, Y, Garavaglia, B, Duran, G, Santorelli, FM, Shield, LK, Xia, W, Shanske, S, Goldstein, JD, et al.
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy..
J Pediatr
135(2 Pt 1)
:
197 -202
1999
view publication
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Delatycki, MB, Camakaris, J, Brooks, H, Evans-Whipp, T, Thorburn, DR, Williamson, R, Forrest, SM.
Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia..
Ann Neurol
45(5)
:
673 -675
1999
view publication
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Kirby, DM, Crawford, M, Cleary, MA, Dahl, HH, Dennett, X, Thorburn, DR.
Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder..
Neurology
52(6)
:
1255 -1264
1999
view publication
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Mowat, D, Kirby, DM, Kamath, KR, Kan, A, Thorburn, DR, Christodoulou, J.
Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature..
J Pediatr
134(3)
:
352 -354
1999
view publication
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Kirby, DM, Milovac, T, Thorburn, DR.
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)
:
211 -215
1998
view publication