Mitochondrial Diseases: Hope for the Future
Russell, Oliver M., Gorman, Gráinne S., Lightowlers, Robert N., Turnbull, Doug M.
Published in Cell (02.04.2020)
Published in Cell (02.04.2020)
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Journal Article
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
Gorman, Gráinne S., Schaefer, Andrew M., Ng, Yi, Gomez, Nicholas, Blakely, Emma L., Alston, Charlotte L., Feeney, Catherine, Horvath, Rita, Yu-Wai-Man, Patrick, Chinnery, Patrick F., Taylor, Robert W., Turnbull, Douglass M., McFarland, Robert
Published in Annals of neurology (01.05.2015)
Published in Annals of neurology (01.05.2015)
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Journal Article
Mitochondrial diseases
Gorman, Gráinne S., Chinnery, Patrick F., DiMauro, Salvatore, Hirano, Michio, Koga, Yasutoshi, McFarland, Robert, Suomalainen, Anu, Thorburn, David R., Zeviani, Massimo, Turnbull, Douglass M.
Published in Nature reviews. Disease primers (20.10.2016)
Published in Nature reviews. Disease primers (20.10.2016)
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Journal Article
Mitochondrial disease in adults: recent advances and future promise
Ng, Yi Shiau, Bindoff, Laurence A, Gorman, Gráinne S, Klopstock, Thomas, Kornblum, Cornelia, Mancuso, Michelangelo, McFarland, Robert, Sue, Carolyn M, Suomalainen, Anu, Taylor, Robert W, Thorburn, David R, Turnbull, Doug M
Published in Lancet neurology (01.07.2021)
Published in Lancet neurology (01.07.2021)
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Journal Article
Novel reproductive technologies to prevent mitochondrial disease
Craven, Lyndsey, Tang, Mao-Xing, Gorman, Gráinne S, De Sutter, Petra, Heindryckx, Björn
Published in Human reproduction update (01.09.2017)
Published in Human reproduction update (01.09.2017)
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Journal Article
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease
Martikainen, Mika H, Ng, Yi Shiau, Gorman, Gráinne S, Alston, Charlotte L, Blakely, Emma L, Schaefer, Andrew M, Chinnery, Patrick F, Burn, David J, Taylor, Robert W, McFarland, Robert, Turnbull, Doug M
Published in JAMA neurology (01.06.2016)
Published in JAMA neurology (01.06.2016)
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Journal Article
Mitochondrial donation: from test tube to clinic
Gorman, Gráinne S, McFarland, Robert, Stewart, Jane, Feeney, Catherine, Turnbull, Doug M
Published in The Lancet (British edition) (06.10.2018)
Published in The Lancet (British edition) (06.10.2018)
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Journal Article
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy
Vincent, Amy E., Ng, Yi Shiau, White, Kathryn, Davey, Tracey, Mannella, Carmen, Falkous, Gavin, Feeney, Catherine, Schaefer, Andrew M., McFarland, Robert, Gorman, Grainne S., Taylor, Robert W., Turnbull, Doug M., Picard, Martin
Published in Scientific reports (10.08.2016)
Published in Scientific reports (10.08.2016)
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Journal Article
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
Pfeffer, Gerald, Gorman, Gráinne S, Griffin, Helen, Kurzawa-Akanbi, Marzena, Blakely, Emma L., Wilson, Ian, Sitarz, Kamil, Moore, David, Murphy, Julie L., Alston, Charlotte L., Pyle, Angela, Coxhead, Jon, Payne, Brendan, Gorrie, George H., Longman, Cheryl, Hadjivassiliou, Marios, McConville, John, Dick, David, Imam, Ibrahim, Hilton, David, Norwood, Fiona, Baker, Mark R., Jaiser, Stephan R., Yu-Wai-Man, Patrick, Farrell, Michael, McCarthy, Allan, Lynch, Timothy, McFarland, Robert, Schaefer, Andrew M., Turnbull, Douglass M., Horvath, Rita, Taylor, Robert W., Chinnery, Patrick F.
Published in Brain (London, England : 1878) (01.05.2014)
Published in Brain (London, England : 1878) (01.05.2014)
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Journal Article
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression
Lim, Albert Z., Ng, Yi Shiau, Blain, Alasdair, Jiminez‐Moreno, Cecilia, Alston, Charlotte L., Nesbitt, Victoria, Simmons, Louise, Santra, Saikat, Wassmer, Evangeline, Blakely, Emma L., Turnbull, Doug M., Taylor, Robert W., Gorman, Gráinne S., McFarland, Robert
Published in Annals of neurology (01.01.2022)
Published in Annals of neurology (01.01.2022)
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Journal Article
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease
Grady, John P, Pickett, Sarah J, Ng, Yi Shiau, Alston, Charlotte L, Blakely, Emma L, Hardy, Steven A, Feeney, Catherine L, Bright, Alexandra A, Schaefer, Andrew M, Gorman, Gráinne S, McNally, Richard JQ, Taylor, Robert W, Turnbull, Doug M, McFarland, Robert
Published in EMBO molecular medicine (01.06.2018)
Published in EMBO molecular medicine (01.06.2018)
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Journal Article
Delineating mechanisms underlying parvalbumin neuron impairment in different neurological and neurodegenerative disorders: the emerging role of mitochondrial dysfunction
Olkhova, Elizaveta A, Smith, Laura A, Dennis, Bethany H, Ng, Yi Shiau, LeBeau, Fiona E N, Gorman, Gráinne S
Published in Biochemical Society transactions (24.04.2024)
Published in Biochemical Society transactions (24.04.2024)
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Journal Article
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA
Nicholls, Thomas J., Nadalutti, Cristina A., Motori, Elisa, Sommerville, Ewen W., Gorman, Gráinne S., Basu, Swaraj, Hoberg, Emily, Turnbull, Doug M., Chinnery, Patrick F., Larsson, Nils-Göran, Larsson, Erik, Falkenberg, Maria, Taylor, Robert W., Griffith, Jack D., Gustafsson, Claes M.
Published in Molecular cell (04.01.2018)
Published in Molecular cell (04.01.2018)
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Journal Article
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging
Lujan, Scott A, Longley, Matthew J, Humble, Margaret H, Lavender, Christopher A, Burkholder, Adam, Blakely, Emma L, Alston, Charlotte L, Gorman, Grainne S, Turnbull, Doug M, McFarland, Robert, Taylor, Robert W, Kunkel, Thomas A, Copeland, William C
Published in Genome Biology (17.09.2020)
Published in Genome Biology (17.09.2020)
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Journal Article
Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology
Olkhova, Elizaveta A, Smith, Laura A, Bradshaw, Carla, Gorman, Gráinne S, Erskine, Daniel, Ng, Yi Shiau
Published in International journal of molecular sciences (02.06.2023)
Published in International journal of molecular sciences (02.06.2023)
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Journal Article
Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination
Ng, Yi Shiau, Feeney, Catherine, Schaefer, Andrew M., Holmes, Carol Ellen, Hynd, Paula, Alston, Charlotte L., Grady, John P., Roberts, Mark, Maguire, Mellisa, Bright, Alexandra, Taylor, Robert W., Yiannakou, Yan, McFarland, Robert, Turnbull, Doug M., Gorman, Gráinne S.
Published in Annals of neurology (01.11.2016)
Published in Annals of neurology (01.11.2016)
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Journal Article
Forecasting stroke-like episodes and outcomes in mitochondrial disease
Ng, Yi Shiau, Lax, Nichola Z, Blain, Alasdair P, Erskine, Daniel, Baker, Mark R, Polvikoski, Tuomo, Thomas, Rhys H, Morris, Christopher M, Lai, Ming, Whittaker, Roger G, Gebbels, Alasdair, Winder, Amy, Hall, Julie, Feeney, Catherine, Farrugia, Maria Elena, Hirst, Claire, Roberts, Mark, Lawthom, Charlotte, Chrysostomou, Alexia, Murphy, Kevin, Baird, Tracey, Maddison, Paul, Duncan, Callum, Poulton, Joanna, Nesbitt, Victoria, Hanna, Michael G, Pitceathly, Robert D S, Taylor, Robert W, Blakely, Emma L, Schaefer, Andrew M, Turnbull, Doug M, McFarland, Robert, Gorman, Gráinne S
Published in Brain (London, England : 1878) (18.04.2022)
Published in Brain (London, England : 1878) (18.04.2022)
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Journal Article
Retrospective natural history of thymidine kinase 2 deficiency
Garone, Caterina, Taylor, Robert W, Nascimento, Andrés, Poulton, Joanna, Fratter, Carl, Domínguez-González, Cristina, Evans, Julie C, Loos, Mariana, Isohanni, Pirjo, Suomalainen, Anu, Ram, Dipak, Hughes, M Imelda, McFarland, Robert, Barca, Emanuele, Lopez Gomez, Carlos, Jayawant, Sandeep, Thomas, Neil D, Manzur, Adnan Y, Kleinsteuber, Karin, Martin, Miguel A, Kerr, Timothy, Gorman, Grainne S, Sommerville, Ewen W, Chinnery, Patrick F, Hofer, Monika, Karch, Christoph, Ralph, Jeffrey, Cámara, Yolanda, Madruga-Garrido, Marcos, Domínguez-Carral, Jana, Ortez, Carlos, Emperador, Sonia, Montoya, Julio, Chakrapani, Anupam, Kriger, Joshua F, Schoenaker, Robert, Levin, Bruce, Thompson, John L P, Long, Yuelin, Rahman, Shamima, Donati, Maria Alice, DiMauro, Salvatore, Hirano, Michio
Published in Journal of medical genetics (01.08.2018)
Published in Journal of medical genetics (01.08.2018)
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Journal Article
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus
De Vries, Maaike C., Brown, David A., Allen, Mitchell E., Bindoff, Laurence, Gorman, Gráinne S., Karaa, Amel, Keshavan, Nandaki, Lamperti, Costanza, McFarland, Robert, Ng, Yi Shiau, O'Callaghan, Mar, Pitceathly, Robert D. S., Rahman, Shamima, Russel, Frans G. M., Varhaug, Kristin N., Schirris, Tom J. J., Mancuso, Michelangelo
Published in Journal of inherited metabolic disease (01.07.2020)
Published in Journal of inherited metabolic disease (01.07.2020)
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