-
Ng, YS, Bindoff, LA, Gorman, GS, Klopstock, T, Kornblum, C, Mancuso, M, McFarland, R, Sue, CM, Suomalainen, A, Taylor, RW, et al.
Mitochondrial disease in adults: recent advances and future promise..
Lancet Neurol
20(7)
:
573 -584
2021
view publication
-
Rius, R, Compton, AG, Baker, NL, Welch, AE, Coman, D, Kava, MP, Minoche, AE, Cowley, MJ, Thorburn, DR, Christodoulou, J.
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases..
Genes (Basel)
12(4)
:
2021
view publication
-
Barcia, G, Pandithan, D, Ruzzenente, B, Assouline, Z, Pennisi, A, Ormieres, C, Besmond, C, Roux, C-J, Boddaert, N, Desguerre, I, et al.
Biallelic IARS2 mutations presenting as sideroblastic anemia..
Haematologica
106(4)
:
1220 -1225
2021
view publication
-
Jackson, TD, Hock, DH, Fujihara, KM, Palmer, CS, Frazier, AE, Low, YC, Kang, Y, Ang, C-S, Clemons, NJ, Thorburn, DR, et al.
The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism..
Mol Biol Cell
32(6)
:
475 -491
2021
view publication
-
Wintjes, LTM, Kava, M, van den Brandt, FA, van den Brand, MAM, Lapina, O, Bliksrud, YT, Kulseth, MA, Amundsen, SS, Selberg, TR, Ybema-Antoine, M, et al.
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction..
Hum Mutat
42(2)
:
135 -141
2021
view publication