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

di 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
Pubblicato in J Med Genet (2011)

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

di 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.
Pubblicato in J Inherit Metab Dis (2018)

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

di 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.
Pubblicato in J Inherit Metab Dis (2018)

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

di 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.
Pubblicazione 2011

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

di 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.
Pubblicazione 2010