OPA1 in multiple mitochondrial DNA deletion disorders

by Stewart, J.D, Hudson, G., Yu-, Blakeley, E.L, He, L., Horvath, R., Maddison, P., Wright, A., Griffiths, P.G, Turnbull, D.M, Taylor, R.W, Chinnery, P.F
Published 2008

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

by Stewart, J. D., Tennant, S., Powell, H., Pyle, A., Blakely, E. L., He, L., Hudson, G., Roberts, M., du Plessis, D., Gow, D., Mewasingh, L .D, Hanna, M. G., Omer, S., Morris, A. A., Roxburgh, R., Livingston, J. H., McFarland, R., Turnbull, D. M., Chinnery, P .F, Taylor, R .W
Published 2009

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

by Fratter, C., Gorman, G. S., Stewart, J. D., Buddles, M., Smith, C., Evans, J., Seller, A., Poulton, J., Roberts, M., Hanna, M. G., Rahman, S., Omer, S. E., Klopstock, T., Schoser, B., Kornblum, C., Czermin, B., Lecky, B., Blakely, E. L., Craig, K., Chinnery, P. F., Turnbull, D. M., Horvath, R., Taylor, R. W.
Published 2010

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

by Yu-, 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.
Published 2010