-
Williamson, SL, Gold, WA, Pelka, GJ, Tam, PPL, Gibson, J, Christodoulouâ, 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
-
Neul, JL, Kaufmann, WE, Glaze, DG, Christodoulou, J, Clarke, AJ, Bahi-Buisson, N, Leonard, H, Bailey, MES, Schanen, NC, Zappella, M, et al.
Rett syndrome: revised diagnostic criteria and nomenclature..
Ann Neurol
68(6)
:
944 -950
2010
view publication
-
Chung, S-K, Vanbellinghen, J-F, Mullins, JGL, Robinson, A, Hantke, J, Hammond, CL, Gilbert, DF, Freilinger, M, Ryan, M, Kruer, MC, et al.
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia..
J Neurosci
30(28)
:
9612 -9620
2010
view publication
-
Riley, LG, Cooper, S, Hickey, P, Rudinger-Thirion, J, McKenzie, M, Compton, A, Lim, SC, Thorburn, D, Ryan, MT, Giegé, R, et al.
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome..
Am J Hum Genet
87(1)
:
52 -59
2010
view publication