Mitochondrial disease in adults: what's old and what's new? by Patrick F Chinnery

Get full text

Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases. by Gavin Hudson, Aurora Gomez-Duran, Ian J Wilson, Patrick F Chinnery

Get full text

Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy. by Anais Thouin, Philip G Griffiths, Gavin Hudson, Patrick F Chinnery, Patrick Yu-Wai-Man

Get full text

The challenges of mitochondrial replacement. by Patrick F Chinnery, Lyndsey Craven, Shoukhrat Mitalipov, James B Stewart, Mary Herbert, Douglass M Turnbull

Get full text

Cryptic mitochondrial DNA mutations coincide with mid-late life and are pathophysiologically informative in single cells across tissues and species by Alistair P. Green, Florian Klimm, Aidan S. Marshall, Rein Leetmaa, Juvid Aryaman, Aurora Gómez-Durán, Patrick F. Chinnery, Nick S. Jones

Get full text

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans. by Angela Pyle, Gavin Hudson, Ian J Wilson, Jonathan Coxhead, Tania Smertenko, Mary Herbert, Mauro Santibanez-Koref, Patrick F Chinnery

Get full text

A role for BCL2L13 and autophagy in germline purifying selection of mtDNA. by Laura S Kremer, Lyuba V Bozhilova, Diana Rubalcava-Gracia, Roberta Filograna, Mamta Upadhyay, Camilla Koolmeister, Patrick F Chinnery, Nils-Göran Larsson

Get full text

In vivo mitochondrial function in HIV-infected persons treated with contemporary anti-retroviral therapy: a magnetic resonance spectroscopy study. by Brendan A I Payne, Kieren G Hollingsworth, Joanne Baxter, Edmund Wilkins, Vincent Lee, D Ashley Price, Michael Trenell, Patrick F Chinnery

Get full text

Reactive oxygen species production and mitochondrial dysfunction in white blood cells are not valid biomarkers of ageing in the very old. by Laura Wiley, Deepthi Ashok, Carmen Martin-Ruiz, Duncan C S Talbot, Joanna Collerton, Andrew Kingston, Karen Davies, Patrick F Chinnery, Michael Catt, Carol Jagger, Thomas B L Kirkwood, Thomas von Zglinicki

Get full text

Age-related mitochondrial DNA depletion and the impact on pancreatic Beta cell function. by Donna L Nile, Audrey E Brown, Meutia A Kumaheri, Helen R Blair, Alison Heggie, Satomi Miwa, Lynsey M Cree, Brendan Payne, Patrick F Chinnery, Louise Brown, David A Gunn, Mark Walker

Get full text

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

Get full text

Heteroplasmic mitochondrial DNA variants in cardiovascular diseases. by Claudia Calabrese, Angela Pyle, Helen Griffin, Jonathan Coxhead, Rafiqul Hussain, Peter S Braund, Linxin Li, Annette Burgess, Patricia B Munroe, Louis Little, Helen R Warren, Claudia Cabrera, Alistair Hall, Mark J Caulfield, Peter M Rothwell, Nilesh J Samani, Gavin Hudson, Patrick F Chinnery

Get full text

Metabolic effects of bezafibrate in mitochondrial disease by Hannah Steele, Aurora Gomez‐Duran, Angela Pyle, Sila Hopton, Jane Newman, Renae J Stefanetti, Sarah J Charman, Jehill D Parikh, Langping He, Carlo Viscomi, Djordje G Jakovljevic, Kieren G Hollingsworth, Alan J Robinson, Robert W Taylor, Leonardo Bottolo, Rita Horvath, Patrick F Chinnery

Get full text

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. by John W Yarham, Tek N Lamichhane, Angela Pyle, Sandy Mattijssen, Enrico Baruffini, Francesco Bruni, Claudia Donnini, Alex Vassilev, Langping He, Emma L Blakely, Helen Griffin, Mauro Santibanez-Koref, Laurence A Bindoff, Ileana Ferrero, Patrick F Chinnery, Robert McFarland, Richard J Maraia, Robert W Taylor

Get full text

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease. by Thomas M Connor, Simon Hoer, Andrew Mallett, Daniel P Gale, Aurora Gomez-Duran, Viktor Posse, Robin Antrobus, Pablo Moreno, Marco Sciacovelli, Christian Frezza, Jennifer Duff, Neil S Sheerin, John A Sayer, Margaret Ashcroft, Michael S Wiesener, Gavin Hudson, Claes M Gustafsson, Patrick F Chinnery, Patrick H Maxwell

Get full text

Patients with neurological or psychiatric complications of COVID-19 have worse long-term functional outcomes: COVID-CNS—A multicentre case–control study by Rajish S. K. Shil, Adam Seed, Nkongho Egbe Franklyn, Brendan F. Sargent, Greta K. Wood, Yun Huang, Katherine C. Dodd, James B. Lilleker, Thomas A. Pollak, Sylviane Defres, Thomas M. Jenkins, Nicholas W. S. Davies, David A. Cousins, Michael S. Zandi, Thomas A. Jackson, Laura A. Benjamin, Ava Easton, Tom Solomon, John R. Bradley, Patrick F. Chinnery, Craig J. Smith, Timothy R. Nicholson, Alan Carson, Rhys H. Thomas, Mark Alexander Ellul, Nicholas W. Wood, Gerome Breen, Benedict Daniel Michael, the COVID-CNS Study Group

Get full text

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations by Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van derWesthuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath

Get full text

Distinction of early complement classical and lectin pathway activation via quantification of C1s/C1-INH and MASP-1/C1-INH complexes using novel ELISAs by Lisa Hurler, Erik J. M. Toonen, Erika Kajdácsi, Bregje van Bree, Ricardo J. M. G. E. Brandwijk, Wieke de Bruin, Paul A. Lyons, Paul A. Lyons, Laura Bergamaschi, Laura Bergamaschi, Cambridge Institute of Therapeutic Immunology and Infectious Disease-National Institute of Health Research (CITIID-NIHR) COVID BioResource Collaboration, György Sinkovits, László Cervenak, Reinhard Würzner, Zoltán Prohászka, Zoltán Prohászka, Stephen Baker, John R. Bradley, Patrick F. Chinnery, Daniel J. Cooper, Gordon Dougan, Ian G. Goodfellow, Ravindra K. Gupta, Nathalie Kingston, Paul J. Lehner, Paul A. Lyons, Nicholas J. Matheson, Caroline Saunders, Kenneth G. C. Smith, Charlotte Summers, James Thaventhiran, M. Estee Torok, Mark R. Toshner, Michael P. Weekes, Gisele Alvio, Sharon Baker, Areti Bermperi, Karen Brookes, Ashlea Bucke, Jo Calder, Laura Canna, Cherry Crucusio, Isabel Cruz, Rnalie de Jesus, Katie Dempsey, Giovanni Di Stephano, Jason Domingo, Anne Elmer, Julie Harris, Sarah Hewitt, Heather Jones, Sherly Jose, Jane Kennet, Yvonne King, Jenny Kourampa, Emily Li, Caroline McMahon, Anne Meadows, Vivien Mendoza, Criona O’Brien, Charmain Ocaya, Ciro Pascuale, Marlyn Perales, Jane Price, Rebecca Rastall, Carla Ribeiro, Jane Rowlands, Valentina Ruffolo, Hugo Tordesillas, Phoebe Vargas, Bensi Vergese, Laura Watson, Jieniean Worsley, Julie-Ann Zerrudo, Laura Bergamaschi, Ariana Betancourt, Georgie Bower, Ben Bullman, Chiara Cossetti, Aloka De Sa, Benjamin J. Dunore, Maddie Epping, Stuart Fawke, Stefan Gräf, Richard Grenfell, Andrew Hinch, Josh Hodgson, Christopher Huang, Oisin Huhn, Kelvin Hunter, Isobel Jarvis, Emma Jones, Maša Josipović, Ekaterina Legchenko, Daniel Lewis, Joe Marsden, Jennifer Martin, Federica Mescia, Francesca Nice, Ciara O’Donnell, Ommar Omarjee, Marianne Perera, Linda Pointon, Nicole Pond, Nathan Richoz, Nika Romashova, Natalia Savoinykh, Rahul Sharma, Joy Shih, Mateusz Strezlecki, Rachel Sutcliffe, Tobias Tilly, Zhen Tong, Carmen Treacy, Lori Turner, Jennifer Wood, Marta Wylot, John Allison, Heather Biggs, Helen Butcher, Daniela Caputo, Debbie Clapham-Riley, Eleanor Dewhurst, Christian Fernandez, Anita Furlong, Barbara Graves, Jennifer Gray, Tasmin Ivers, Emma Le Gresley, Rachel Linger, Mary Kasanicki, Sarah Meloy, Francesca Muldoon, Nigel Ovington, Sofia Papadia, Christopher J. Penkett, Isabel Phelan, Venkatesh Ranganath, Jennifer Sambrook, Katherine Schon, Hannah Stark, Kathleen E. Stirrups, Paul Townsend, Julie von Ziegenweidt, Jennifer Webster, Ali Asaripour, Lucy Mwaura, Caroline Patterson, Gary Polwarth, Katherine Bunclark, Michael Mackay, Alice Michael, Sabrina Rossi, Mayurun Selvan, Sarah Spencer, Cissy Yong, Petra Polgarova

Get full text