-
Ho, G, Christodoulou, J.
Phenylketonuria: translating research into novel therapies..
Transl Pediatr
3(2)
:
49 -62
2014
view publication
-
Menezes, MJ, Riley, LG, Christodoulou, J.
Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine..
Biochim Biophys Acta
1840(4)
:
1368 -1379
2014
view publication
-
Gold, WA, Williamson, SL, Kaur, S, Hargreaves, IP, Land, JM, Pelka, GJ, Tam, PPL, Christodoulou, J.
Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): implications for the disease phenotype..
Mitochondrion
15:
10 -17
2014
view publication
-
Lim, SC, Smith, KR, Stroud, DA, Compton, AG, Tucker, EJ, Dasvarma, A, Gandolfo, LC, Marum, JE, McKenzie, M, Peters, HL, et al.
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome..
Am J Hum Genet
94(2)
:
209 -222
2014
view publication
-
Miller, DK, Menezes, MJ, Simons, C, Riley, LG, Cooper, ST, Grimmond, SM, Thorburn, DR, Christodoulou, J, Taft, RJ.
Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient..
PLoS One
9(8)
:
e104879
2014
view publication