Triplex real-time PCR–an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells

Por Rygiel, Karolina A., Grady, John P., Taylor, Robert W., Tuppen, Helen A. L., Turnbull, Doug M.
Publicado no Sci Rep (2015)

Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle

Por Grady, John P., Murphy, Julie L., Blakely, Emma L., Haller, Ronald G., Taylor, Robert W., Turnbull, Doug M., Tuppen, Helen A. L.
Publicado no PLoS One (2014)

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy

Por Lehmann, Diana, Schubert, Kathrin, Joshi, Pushpa R, Hardy, Steven A, Tuppen, Helen A L, Baty, Karen, Blakely, Emma L, Bamberg, Christian, Zierz, Stephan, Deschauer, Marcus, Taylor, Robert W
Publicado no Eur J Hum Genet (2015)

Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations

Por Greggains, Gareth D., Lister, Lisa M., Tuppen, Helen A. L., Zhang, Qi, Needham, Louise H., Prathalingam, Nilendran, Hyslop, Louise A., Craven, Lyndsey, Polanski, Zbigniew, Murdoch, Alison P., Turnbull, Douglass M., Herbert, Mary
Publicado no Sci Rep (2014)

Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing

Por Greaves, Laura C., Nooteboom, Marco, Elson, Joanna L., Tuppen, Helen A. L., Taylor, Geoffrey A., Commane, Daniel M., Arasaradnam, Ramesh P., Khrapko, Konstantin, Taylor, Robert W., Kirkwood, Thomas B. L., Mathers, John C., Turnbull, Douglass M.
Publicado em 2014

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression

Por Gorman, Grainne S., Blakely, Emma L., Hornig-Do, Hue-Tran, Tuppen, Helen A.L., Greaves, Laura C., He, Langping, Baker, Angela, Falkous, Gavin, Newman, Jane, Trenell, Michael I., Lecky, Bryan, Petty, Richard K., Turnbull, Doug M., McFarland, Robert, Taylor, Robert W.
Publicado no Clin Sci (Lond) (2015)

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

Por Tuppen, Helen A. L., Hogan, Vanessa E., He, Langping, Blakely, Emma L., Worgan, Lisa, Al-Dosary, Mazhor, Saretzki, Gabriele, Alston, Charlotte L., Morris, Andrew A., Clarke, Michael, Jones, Simon, Devlin, Anita M., Mansour, Sahar, Chrzanowska-Lightowlers, Zofia M. A., Thorburn, David R., McFarland, Robert, Taylor, Robert W.
Publicado em 2010

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

Por Kemp, John P., Smith, Paul M., Pyle, Angela, Neeve, Vivienne C. M., Tuppen, Helen A. L., Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Lochmüller, Hanns, McFarland, Robert, Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M.A., Lightowlers, Robert N., Taylor, Robert W., Horvath, Rita
Publicado em 2011

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Por Horvath, Rita, Kemp, John P., Tuppen, Helen A. L., Hudson, Gavin, Oldfors, Anders, Marie, Suely K. N., Moslemi, Ali-Reza, Servidei, Serenella, Holme, Elisabeth, Shanske, Sara, Kollberg, Gittan, Jayakar, Parul, Pyle, Angela, Marks, Harold M., Holinski-Feder, Elke, Scavina, Mena, Walter, Maggie C., Çoku, Jorida, Günther-Scholz, Andrea, Smith, Paul M., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Hirano, Michio, Lochmüller, Hanns, Taylor, Robert W., Chinnery, Patrick F., Tulinius, Mar, DiMauro, Salvatore
Publicado em 2009