Research output per year
Research output per year
Research output
- 3 Article
Search results
-
2013
SURF1 deficiency: a multi-centre natural history study
Wedatilake, Y., Brown, R. M., McFarland, R., Yaplito-Lee, J., Morris, A. A. M., Champion, M., Jardine, P. E., Clarke, A., Thorburn, D. R., Taylor, R. W., Land, J. M., Forrest, K., Dobbie, A., Simmons, L., Aasheim, E. T., Ketteridge, D., Hanrahan, D., Chakrapani, A., Brown, G. K. & Rahman, S., 5 Jul 2013, In: Orphanet Journal of Rare Diseases. 8, 13 p., 96.Research output: Contribution to journal › Article › peer-review
Open Access109 Citations (Scopus) -
2012
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease
Pitceathly, R. D. S., Murphy, S. M., Cottenie, E., Chalasani, A., Sweeney, M. G., Woodward, C., Mudanohwo, E. E., Hargreaves, I., Heales, S., Land, J., Holton, J. L., Houlden, H., Blake, J., Champion, M., Flinter, F., Robb, S. A., Page, R., Palace, J., Crowe, C. & Longman, C. & 4 others, , Sept 2012, In: Neurology. 79, 11, p. 1145-1154 10 p.Research output: Contribution to journal › Article › peer-review
89 Citations (Scopus) -
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
Wortmann, S. B., Champion, M., van den Heuvel, L., Barth, H., Trutnau, B., Craig, K., Lammens, M., Schreuder, M. F., Taylor, R. W., Smeitink, J. A. M., Wevers, R. A., Rodenburg, R. J. & Morava, E., Oct 2012, In: EUROPEAN JOURNAL OF MEDICAL GENETICS. 55, 10, p. 552-556 5 p.Research output: Contribution to journal › Article › peer-review
25 Citations (Scopus)