-
Swalwell, H, Kirby, DM, Blakely, EL, Mitchell, A, Salemi, R, Sugiana, C, Compton, AG, Tucker, EJ, Ke, B-X, Lamont, PJ, et al.
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations..
Eur J Hum Genet
19(7)
:
769 -775
2011
view publication
-
Riley, L, Cooper, S, Hickey, P, Rudinger-Thirion, J, McKenzie, M, Compton, A, Thorburn, D, Ryan, M, Giegé, R, Bahlo, M, et al.
A YARS2 mutation is a novel cause of mitochondrial myopathy lactic acidosis and sideroblastic anemia (MLASA) syndrome.
Mitochondrion
11(4)
:
670 -671
2011
view publication
-
Van Hove⁎, J, Rice, C, Friederich, M, Smet, J, Wong, L-J, Landsverk, M, Dimmock, D, Thorburn, D, Van Coster, R.
An new mutation m.3928G>C p.V208L in ND1 causes Leigh disease.
Mitochondrion
11(4)
:
670
2011
view publication
-
Loesch, DZ, Godler, DE, Evans, A, Bui, QM, Gehling, F, Kotschet, KE, Trost, N, Storey, E, Stimpson, P, Kinsella, G, et al.
Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism..
Genet Med
13(5)
:
392 -399
2011
view publication
-
Taylor, RW, Swalwell, H, Kirby, DM, Blakely, EL, Mitchell, A, Salemi, R, Sugiana, C, Compton, AG, Tucker, EJ, Ke, B-X, et al.
P59 Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.
Neuromuscular Disorders
21:
s23
2011
view publication