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 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 2014

Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1

por Di Leo, Valeria, Lawless, Conor, Roussel, Marie-Pier, Gomes, Tiago B., Gorman, Gráinne S., Russell, Oliver M., Tuppen, Helen A.L., Duchesne, Elise, Vincent, Amy E.
Publicado 2023

Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis

por Rygiel, Karolina A., Tuppen, Helen A., Grady, John P., Vincent, Amy, Blakely, Emma L., Reeve, Amy K., Taylor, Robert W., Picard, Martin, Miller, James, Turnbull, Doug M.
Publicado 2016

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNA(Val) carrying the pathogenic C25U mutation

por Rorbach, Joanna, Yusoff, Abdul Aziz, Tuppen, Helen, Abg-Kamaludin, Dyg P., Chrzanowska-Lightowlers, Zofia M.A., Taylor, Robert W., Turnbull, Douglass M., McFarland, Robert, Lightowlers, Robert N.
Publicado 2008

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 2015

Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations

por Hornig-Do, Hue Tran, Montanari, Arianna, Rozanska, Agata, Tuppen, Helen A, Almalki, Abdulraheem A, Abg-Kamaludin, Dyg P, Frontali, Laura, Francisci, Silvia, Lightowlers, Robert N, Chrzanowska-Lightowlers, Zofia M
Publicado 2014

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 2014

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

por Craven, Lyndsey, Tuppen, Helen A, Greggains, Gareth D, Harbottle, Stephen J, Murphy, Julie L, Cree, Lynsey M, Murdoch, Alison P, Chinnery, Patrick F, Taylor, Robert W, Lightowlers, Robert N, Herbert, Mary, Turnbull, Douglass M
Publicado 2010

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 2014

Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations

por Perli, Elena, Fiorillo, Annarita, Giordano, Carla, Pisano, Annalinda, Montanari, Arianna, Grazioli, Paola, Campese, Antonio F., Di Micco, Patrizio, Tuppen, Helen A., Genovese, Ilaria, Poser, Elena, Preziuso, Carmela, Taylor, Robert W., Morea, Veronica, Colotti, Gianni, d'Amati, Giulia
Publicado 2016

Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level

por 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
Publicado 2019

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 2015

Pathological mechanisms underlying single large‐scale mitochondrial DNA deletions

por Rocha, Mariana C., Rosa, Hannah S., Grady, John P., Blakely, Emma L., He, Langping, Romain, Nadine, Haller, Ronald G., Newman, Jane, McFarland, Robert, Ng, Yi Shiau, Gorman, Grainne S., Schaefer, Andrew M., Tuppen, Helen A., Taylor, Robert W., Turnbull, Doug M.
Publicado 2018

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

por Perli, Elena, Giordano, Carla, Pisano, Annalinda, Montanari, Arianna, Campese, Antonio F, Reyes, Aurelio, Ghezzi, Daniele, Nasca, Alessia, Tuppen, Helen A, Orlandi, Maurizia, Di Micco, Patrizio, Poser, Elena, Taylor, Robert W, Colotti, Gianni, Francisci, Silvia, Morea, Veronica, Frontali, Laura, Zeviani, Massimo, d'Amati, Giulia
Publicado 2014

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 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 2011

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease

por Hyslop, Louise A., Blakeley, Paul, Craven, Lyndsey, Richardson, Jessica, Fogarty, Norah M.E., Fragouli, Elpida, Lamb, Mahdi, Wamaitha, Sissy E., Prathalingam, Nilendran, Zhang, Qi, O’Keefe, Hannah, Takeda, Yuko, Arizzi, Lucia, Alfarawati, Samer, Tuppen, Helen A., Irving, Laura, Kalleas, Dimitrios, Choudhary, Meenakshi, Wells, Dagan, Murdoch, Alison P, Turnbull, Douglass M., Niakan, Kathy K., Herbert, Mary
Publicado 2016

Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients...

por Abouhajar, Alaa, Alcock, Lisa, Bigirumurame, Theophile, Bradley, Penny, Brown, Laura, Campbell, Ian, Del Din, Sylvia, Faitg, Julie, Falkous, Gavin, Gorman, Gráinne S., Lakey, Rachel, McFarland, Robert, Newman, Jane, Rochester, Lynn, Ryan, Vicky, Smith, Hesther, Steel, Alison, Stefanetti, Renae J., Su, Huizhong, Taylor, Robert W., Thomas, Naomi J.P., Tuppen, Helen, Vincent, Amy E., Warren, Charlotte, Watson, Gillian
Publicado 2022

Correction: Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adu...

por Abouhajar, Alaa, Alcock, Lisa, Bigirumurame, Theophile, Bradley, Penny, Brown, Laura, Campbell, Ian, Del Din, Silvia, Faitg, Julie, Falkous, Gavin, Gorman, Grainne S., Lakey, Rachel, McFarland, Robert, Newman, Jane, Rochester, Lynn, Ryan, Vicky, Smith, Hesther, Steel, Alison, Stefanetti, Renae J., Su, Huizhong, Taylor, Robert W., Thomas, Naomi J. P., Tuppen, Helen, Vincent, Amy E., Warren, Charlotte, Watson, Gillian
Publicado 2022