-
Tucker, EJ, Hershman, SG, Köhrer, C, Belcher-Timme, CA, Patel, J, Goldberger, OA, Christodoulou, J, Silberstein, JM, McKenzie, M, Ryan, MT, et al.
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation..
Cell Metab
14(3)
:
428 -434
2011
view publication
-
Alodaib, A, Carpenter, K, Wiley, V, Sim, K, Christodoulou, J, Wilcken, B.
An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples..
Ann Clin Biochem
48(Pt 5)
:
468 -470
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
-
Williamson, SL, Gold, WA, Pelka, GJ, Tam, PPL, Gibson, J, Christodoulou⁎, J.
Mitochondrial abnormalities in the Mecp2tm1Tam mouse model of Rett syndrome.
Mitochondrion
11(4)
:
662 -663
2011
view publication
-
Ho, G, Yonezawa, A, Masuda, S, Inui, K-I, Sim, KG, Carpenter, K, Olsen, RKJ, Mitchell, JJ, Rhead, WJ, Peters, G, et al.
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B..
Hum Mutat
32(1)
:
E1976 -E1984
2011
view publication