-
Ryder, B, Moore, F, Mitchell, A, Thompson, S, Christodoulou, J, Balasubramaniam, S.
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet..
40:
77 -83
2018
view publication
-
Maas, RR, Iwanicka-Pronicka, K, Kalkan Ucar, S, Alhaddad, B, AlSayed, M, Al-Owain, MA, Al-Zaidan, HI, Balasubramaniam, S, Barić, I, Bubshait, DK, et al.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases..
Ann Neurol
82(6)
:
1004 -1015
2017
view publication
-
Parikh, S, Goldstein, A, Karaa, A, Koenig, MK, Anselm, I, Brunel-Guitton, C, Christodoulou, J, Cohen, BH, Dimmock, D, Enns, GM, et al.
Response to Newman et al..
Genet Med
19(12)
:
2017
view publication
-
Parikh, S, Goldstein, A, Karaa, A, Koenig, MK, Anselm, I, Brunel-Guitton, C, Christodoulou, J, Cohen, BH, Dimmock, D, Enns, GM, et al.
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society..
Genet Med
19(12)
:
2017
view publication
-
Nafisinia, M, Sobreira, N, Riley, L, Gold, W, Uhlenberg, B, Weiß, C, Boehm, C, Prelog, K, Ouvrier, R, Christodoulou, J.
Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease..
Eur J Hum Genet
25(10)
:
1134 -1141
2017
view publication