Reversible Infantile Respiratory Chain Deficiency is a Unique, Genetically Heterogenous Mitochondrial Disease

Por Uusimaa, J, Jungbluth, H, Fratter, C, Crisponi, G, Feng, L, Zeviani, M, Hughes, I, Treacy, EP, Birks, J, Brown, GK, Sewry, CA, McDermott, M, Muntoni, F, Poulton, J
Publicado no J Med Genet (2011)

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

Por Papandreou, A., Rahman, S., Fratter, C., Ng, J., Meyer, E., Carr, L. J., Champion, M., Clarke, A., Gissen, P., Hemingway, C., Hussain, N., Jayawant, S., King, M. D., Lynch, B. J., Mewasingh, L., Patel, J., Prabhakar, P., Neergheen, V., Pope, S., Heales, S. J. R., Poulton, J., Kurian, Manju A.
Publicado no J Inherit Metab Dis (2018)

Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

Por Papandreou, A., Rahman, S., Fratter, C., Ng, J., Meyer, E., Carr, L. J., Champion, M., Clarke, A., Gissen, P., Hemingway, C., Hussain, N., Jayawant, S., King, M. D., Lynch, B. J., Mewasingh, L., Patel, J., Prabhakar, P., Neergheen, V., Pope, S., Heales, S. J. R., Poulton, J., Kurian, Manju A.
Publicado no J Inherit Metab Dis (2018)

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

Por Fratter, C., Raman, P., Alston, C.L., Blakely, E.L., Craig, K., Smith, C., Evans, J., Seller, A., Czermin, B., Hanna, M.G., Poulton, J., Brierley, C., Staunton, T.G., Turnpenny, P.D., Schaefer, A.M., Chinnery, P.F., Horvath, R., Turnbull, D.M., Gorman, G.S., Taylor, R.W.
Publicado em 2011

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

Por 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.
Publicado em 2010