-
Neul, JL, Kaufmann, WE, Glaze, DG, Christodoulou, J, Clarke, AJ, BahiāBuisson, N, Leonard, H, Bailey, MES, Schanen, NC, Zappella, M, et al. Rett syndrome: Revised diagnostic criteria and nomenclature.
Annals of Neurology
68(6)
:
944 -950
2010
view publication
-
Williamson, SL, Giudici, L, Kilstrup-Nielsen, C, Gold, W, Pelka, GJ, Tam, PPL, Grimm, A, Prodi, D, Landsberger, N, Christodoulou, J. A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.
Human Genetics
131(2)
:
187 -200
2011
view publication
-
Christodoulou, J, Hoare, J, Hammond, J, Ip, WC, Wilcken, B. Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features.
The Journal of Pediatrics
126(1)
:
65 -68
1995
view publication
-
Stormon, MO, De Greef, E, Christodoulou, J, Dorney, S, Shun, A, McCaughan, G, O'Loughlin, EV, Jermyn, V. MITOCHONDRIAL RESPIRATORY CHAIN HEPATOPATHIES: ROLE OF LIVER TRANSPLANTATION. A CASE SERIES OF 5 PATIENTS.
Transplantation
86(2S)
:
617
2008
view publication
-
Bijarnia, S, Wiley, V, Carpenter, K, Christodoulou, J, Ellaway, CJ, Wilcken, B. Glutaric aciduria type I: outcome following detection by newborn screening.
Journal of Inherited Metabolic Disease
31(4)
:
503 -507
2008
view publication