-
Rius, R, Cowley, MJ, Riley, L, Puttick, C, Thorburn, DR, Christodoulou, J.
Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon..
Genet Med
21(12)
:
2823 -2826
2019
view publication
-
Rius, R, Van Bergen, NJ, Compton, AG, Riley, LG, Kava, MP, Balasubramaniam, S, Amor, DJ, Fanjul-Fernandez, M, Cowley, MJ, Fahey, MC, et al.
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants..
J Clin Med
8(11)
:
2019
view publication
-
Kang, Y, Anderson, AJ, Jackson, TD, Palmer, CS, De Souza, DP, Fujihara, KM, Stait, T, Frazier, AE, Clemons, NJ, Tull, D, et al.
Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome..
Elife
8:
2019
view publication
-
Lake, NJ, Formosa, LE, Stroud, DA, Ryan, MT, Calvo, SE, Mootha, VK, Morar, B, Procopis, PG, Christodoulou, J, Compton, AG, et al.
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant..
Hum Mutat
40(7)
:
893 -898
2019
view publication
-
Frazier, AE, Thorburn, DR, Compton, AG.
Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology..
J Biol Chem
294(14)
:
5386 -5395
2019
view publication