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

অনুযায়ী Rygiel, Karolina A., Grady, John P., Taylor, Robert W., Tuppen, Helen A. L., Turnbull, Doug M.
প্রকাশিত Sci Rep (2015)

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

অনুযায়ী Grady, John P., Murphy, Julie L., Blakely, Emma L., Haller, Ronald G., Taylor, Robert W., Turnbull, Doug M., Tuppen, Helen A. L.
প্রকাশিত PLoS One (2014)

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

অনুযায়ী 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
প্রকাশিত Eur J Hum Genet (2015)

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

অনুযায়ী 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
প্রকাশিত Sci Rep (2014)

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

অনুযায়ী 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.
প্রকাশিত 2014

Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level

অনুযায়ী Lehmann, Diana, Tuppen, Helen A L, Campbell, Georgia E, Alston, Charlotte L, Lawless, Conor, Rosa, Hannah S, Rocha, Mariana C, Reeve, Amy K, Nicholls, Thomas J, Deschauer, Marcus, Zierz, Stephan, Taylor, Robert W, Turnbull, Doug M, Vincent, Amy E
প্রকাশিত Nucleic Acids Res (2019)

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

অনুযায়ী 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.
প্রকাশিত Clin Sci (Lond) (2015)

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

অনুযায়ী 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.
প্রকাশিত 2010

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

অনুযায়ী 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
প্রকাশিত 2011

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

অনুযায়ী 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
প্রকাশিত 2009