Initial development and validation of a mitochondrial disease quality of life scale

por Elson, J.L., Cadogan, M., Apabhai, S., Whittaker, R.G., Phillips, A., Trennell, M.I., Horvath, R., Taylor, R.W., McFarland, R., McColl, E., Turnbull, D.M., Gorman, G.S.
Publicado 2013

Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease

por Boczonadi, V., King, M. S., Smith, A. C., Olahova, M., Bansagi, B., Roos, A., Eyassu, F., Borchers, C., Ramesh, V., Lochmüller, H., Polvikoski, T., Whittaker, R. G., Pyle, A., Griffin, H., Taylor, R. W., Chinnery, P. F., Robinson, A. J., Kunji, E. R. S., Horvath, R.
Publicado 2019

Multi-system neurological disease is common in patients with OPA1 mutations

por Yu-Wai-Man, P., Griffiths, P.G., Gorman, G.S., Lourenco, C.M., Wright, A.F., Auer-Grumbach, M., Toscano, A., Musumeci, O., Valentino, M.L., Caporali, L., Lamperti, C., Tallaksen, C.M., Duffey, P., Miller, J., Whittaker, R.G., Baker, M.R., Jackson, M.J., Clarke, M.P., Dhillon, B., Czermin, B., Stewart, J.D., Hudson, G., Reynier, P., Bonneau, D., Marques, W., Lenaers, G., McFarland, R., Taylor, R.W., Turnbull, D.M., Votruba, M., Zeviani, M., Carelli, V., Bindoff, L.A., Horvath, R., Amati-Bonneau, P., Chinnery, P.F.
Publicado 2010