-
Andzelm, MM, Balasubramaniam, S, Yang, E, Compton, AG, Millington, K, Zhu, J, Anselm, I, Rodan, LH, Thorburn, DR, Christodoulou, J, et al.
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder..
JIMD Rep
63(5)
:
391 -399
2022
view publication
-
Andzelm, MM, Balasubramaniam, S, Yang, E, Compton, AG, Millington, K, Zhu, J, Anselm, I, Rodan, LH, Thorburn, DR, Christodoulou, J, et al.
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder..
JIMD Rep
63(5)
:
391 -399
2022
view publication
-
Long, JC, Best, S, Nic Giolla Easpaig, B, Hatem, S, Fehlberg, Z, Christodoulou, J, Braithwaite, J.
Needs of people with rare diseases that can be supported by electronic resources: a scoping review..
BMJ Open
12(9)
:
e060394
2022
view publication
-
Van Bergen, NJ, Massey, S, Quigley, A, Rollo, B, Harris, AR, Kapsa, RMI, Christodoulou, J.
CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development..
Biochem Soc Trans
50(4)
:
1207 -1224
2022
view publication
-
Davis, RL, Kumar, KR, Puttick, C, Liang, C, Ahmad, KE, Edema-Hildebrand, F, Park, J-S, Minoche, AE, Gayevskiy, V, Mallawaarachchi, AC, et al.
Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis..
Neurology
99(7)
:
e730 -e742
2022
view publication