Habitual physical activity in mitochondrial disease. by Shehnaz Apabhai, Grainne S Gorman, Laura Sutton, Joanna L Elson, Thomas Plötz, Douglass M Turnbull, Michael I Trenell

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Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder by John P Bourke, Yi Shiau Ng, Matthew G D Bates, Gráinne S Gorman, Saidi Mohiddin, Doug Turnbull, Margaret Tynan

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Measuring the effects of exercise in neuromuscular disorders: a systematic review and meta-analyses [version 1; peer review: 2 approved] by Renae J. Stefanetti, Alasdair Blain, Cecilia Jimenez-Moreno, Linda Errington, Yi Shiau Ng, Robert McFarland, Doug M. Turnbull, Jane Newman, Gráinne S Gorman

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Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene by Frances Smith, Sila Hopton, Cristina Dallabona, Micol Gilberti, Gavin Falkous, Fiona Norwood, Claudia Donnini, Gráinne S. Gorman, Barnaby Clark, Robert W. Taylor, Austin G. Kulasekararaj

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A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction by Elizaveta A. Olkhova, Carla Bradshaw, Alasdair Blain, Debora Alvim, Doug M. Turnbull, Fiona E. N. LeBeau, Yi Shiau Ng, Gráinne S. Gorman, Nichola Z. Lax

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Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability by Heather L. Moore, Thomas Kelly, Alexandra Bright, Robert H. Field, Andrew M. Schaefer, Alasdair P. Blain, Robert W. Taylor, Robert McFarland, Doug M. Turnbull, Gráinne S. Gorman

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Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study by Sasiharan Sithamparanathan, Mariana C. Rocha, Jehill D. Parikh, Karolina A. Rygiel, Gavin Falkous, John P. Grady, Kieren G. Hollingsworth, Michael I. Trenell, Robert W. Taylor, Doug M. Turnbull, Gráinne S. Gorman, Paul A. Corris

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Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects by John P Bourke, Robert McFarland, John O'Sullivan, Yi Shiau Ng, Doug M Turnbull, Albert Zishen Lim, Daniel M Jones, Matthew G D Bates, Andrew M Schaefer, Catherine Feeney, Maria E Farrugia, Gráinne S Gorman

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Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. by Cynthia Yu-Wai-Man, Fiona E Smith, Michael J Firbank, Grant Guthrie, Stuart Guthrie, Grainne S Gorman, Robert W Taylor, Douglass M Turnbull, Philip G Griffiths, Andrew M Blamire, Patrick F Chinnery, Patrick Yu-Wai-Man

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A study protocol to investigate if acipimox improves muscle function and sarcopenia: an open-label, uncontrolled, before-and-after experimental medicine feasibility study in commun... by Miles D Witham, Lynn Rochester, Charlotte Warren, Laura Brown, Claire McDonald, Silvia Del Din, Kieren Hollingsworth, Craig Alderson, Matthew G Birkbeck, Grainne G Gorman, Clare Massarella, Rana Rehman, Avan AP Sayer, Huizhong Su, Helen Tuppen

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Phase II Feasibility Study of the Efficacy, Tolerability, and Impact on the Gut Microbiome of a Low-Residue (Fiber) Diet in Adult Patients With Mitochondrial Disease by David Houghton, Yi Shiau Ng, Matthew A. Jackson, Renae Stefanetti, Paula Hynd, Micheál Mac Aogáin, Christopher J. Stewart, Christopher A. Lamb, Alexandra Bright, Catherine Feeney, Jane Newman, Doug M. Turnbull, Robert McFarland, Alasdair P. Blain, Gráinne S. Gorman

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A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project [version 1; peer review: 2 approved] by Aura Cecilia Jimenez-Moreno, Cathy Anne Pinto, Bennett Levitan, Chiara Whichello, Christine Dyer, Eline Van Overbeeke, Esther de Bekker-Grob, Ian Smith, Isabelle Huys, Jennifer Viberg Johansson, Kate Adcock, Kristin Bullock, Vikas Soekhai, Zhong Yuan, Hanns Lochmuller, Ardine de Wit, Grainne S. Gorman

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mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease by John P Grady, Sarah J Pickett, Yi Shiau Ng, Charlotte L Alston, Emma L Blakely, Steven A Hardy, Catherine L Feeney, Alexandra A Bright, Andrew M Schaefer, Gráinne S Gorman, Richard JQ McNally, Robert W Taylor, Doug M Turnbull, Robert McFarland

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Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion by Ana Cotta, Charlotte L. Alston, Sidney Baptista‐Junior, Julia F. Paim, Elmano Carvalho, Monica M. Navarro, Marie Appleton, Yi Shiau Ng, Jaquelin Valicek, Antonio L. da‐Cunha‐Junior, Maria I. Lima, Alessandra de laRocque Ferreira, Reinaldo I. Takata, Iain P. Hargreaves, Gráinne S. Gorman, Robert McFarland, Germaine Pierre, Robert W. Taylor

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

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

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RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis by Jonathan Shintaku, Wolfgang M. Pernice, Wafaa Eyaid, Jeevan B. GC, Zuben P. Brown, Marti Juanola-Falgarona, Javier Torres-Torronteras, Ewen W. Sommerville, Debby M.E.I. Hellebrekers, Emma L. Blakely, Alan Donaldson, Ingrid van de Laar, Cheng-Shiun Leu, Ramon Marti, Joachim Frank, Kurenai Tanji, David A. Koolen, Richard J. Rodenburg, Patrick F. Chinnery, H.J.M. Smeets, Gráinne S. Gorman, Penelope E. Bonnen, Robert W. Taylor, Michio Hirano

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MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load by Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman

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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability by Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A de Moura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls

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POLRMT mutations impair mitochondrial transcription causing neurological disease by Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J. Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J. Bleyer, Kim L. McBride, Sasigarn A. Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A. Tarnopolsky, Lauren I. Brady, K. Nicole Weaver, Carlos E. Prada, Katrin Õunap, Monica H. Wojcik, Sander Pajusalu, Safoora B. Syeda, Lynn Pais, Elicia A. Estrella, Christine C. Bruels, Louis M. Kunkel, Peter B. Kang, Penelope E. Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S. Gorman, Maria Falkenberg, Claes M. Gustafsson, Robert W. Taylor

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