Blakely, Emma L.

Mitochondrial DNA mutations and human disease

Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 676

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance

Hudson, G., Amati-Bonneau, P., Blakely, E. L., Stewart, J. D., He, L., Schaefer, A. M., Griffiths, P. G., Ahlqvist, K., Suomalainen, A., Reynier, P., et al. (2008) · Brain

Mitochondrial Function and PathologyHereditary Neurological Disorders

Cited by 428

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Swalwell, H., Blakely, E. L., Sutton, R., Tonska, K., Elstner, M., He, L., Taivassalo, T., Burns, D. K., Turnbull, D. M., Haller, R. G., et al. (2008) · European Journal of Human Genetics

Mitochondrial Function and PathologyGenomics and Rare Diseases

Cited by 34

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits

Craig, K., Young, M. J., Blakely, E. L., Longley, M. J., Turnbull, D. M., Copeland, W. C., & Taylor, R. W. (2012) · Mitochondrion

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 24