-
Ellaway, C, North, K, Arbuckle, S, Christodoulou, J. Complex I deficiency in association with structural abnormalities of the diaphragm and brain.
Journal of Inherited Metabolic Disease
21(1)
:
72 -73
1998
view publication
-
Menezes, MP, Ryan, MM, Thorburn, D, Christodoulou, JC, North, KN, Ouvrier, RA. P3.27 Childhood mitochondrial neuropathies: Clinical, electrophysiological and histopathological characteristics.
Neuromuscular Disorders
21(9-10)
:
690
2011
view publication
-
Krishnaraj, R, Haase, F, Coorey, B, Luca, EJ, Wong, I, Boyling, A, Ellaway, C, Christodoulou, J, Gold, WA. Genome‐wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets.
Human Mutation
40(12)
:
2184 -2196
2019
view publication
-
van der Knaap, MS, Bugiani, M, Mendes, MI, Riley, LG, Smith, DEC, Rudinger-Thirion, J, Frugier, M, Breur, M, Crawford, J, van Gaalen, J, et al. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy..
Neurology
92(11)
:
e1225 -e1237
2019
view publication
-
Morales-Briceño, H, Chang, FCF, Wong, C, Mallawaarachchi, A, Wolfe, N, Pellegrino da Silva, R, Hakonarson, H, Sandaradura, SA, Guo, Y, Christodoulou, J, et al. Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency..
Neurology
92(2)
:
94 -97
2019
view publication