-
Van Bergen, NJ, Guo, Y, Rankin, J, Paczia, N, Becker-Kettern, J, Kremer, LS, Pyle, A, Conrotte, J-F, Ellaway, C, Procopis, P, et al.
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses..
Brain
142(1)
:
50 -58
2019
view publication
-
Stutterd, CA, Lake, NJ, Peters, H, Lockhart, PJ, Taft, RJ, van der Knaap, MS, Vanderver, A, Thorburn, DR, Simons, C, Leventer, RJ.
Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations..
JIMD Rep
43:
63 -70
2019
view publication
-
Forbes, JM, Thorburn, DR.
Mitochondrial dysfunction in diabetic kidney disease..
Nat Rev Nephrol
14(5)
:
291 -312
2018
view publication
-
Lake, NJ, Webb, BD, Stroud, DA, Richman, TR, Ruzzenente, B, Compton, AG, Mountford, HS, Pulman, J, Zangarelli, C, Rio, M, et al.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome..
Am J Hum Genet
102(4)
:
713
2018
view publication
-
Wali, JA, Galic, S, Tan, CY, Gurzov, EN, Frazier, AE, Connor, T, Ge, J, Pappas, EG, Stroud, D, Varanasi, LC, et al.
Loss of BIM increases mitochondrial oxygen consumption and lipid oxidation, reduces adiposity and improves insulin sensitivity in mice..
Cell Death Differ
25(1)
:
217 -225
2018
view publication