Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease von 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

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A neurological perspective on mitochondrial disease von McFarland, Robert, MRCPCH, Taylor, Robert W, Prof, Turnbull, Douglass M, Prof

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The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy von 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

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mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease von 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

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Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging von 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

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Prevalence of mitochondrial DNA disease in adults von Schaefer, Andrew M., McFarland, Robert, Blakely, Emma L., He, Langping, Whittaker, Roger G., Taylor, Robert W., Chinnery, Patrick F., Turnbull, Douglass M.

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Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions von Persson, Örjan, Muthukumar, Yazh, Basu, Swaraj, Jenninger, Louise, Uhler, Jay P., Berglund, Anna-Karin, McFarland, Robert, Taylor, Robert W., Gustafsson, Claes M., Larsson, Erik, Falkenberg, Maria

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A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations von Yarham, John W., Al-Dosary, Mazhor, Blakely, Emma L., Alston, Charlotte L., Taylor, Robert W., Elson, Joanna L., McFarland, Robert

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Natural History of Leigh Syndrome: A Study of Disease Burden and Progression von 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

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2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA von Pantic, Boris, Ives, Daniel, Mennuni, Mara, Perez-Rodriguez, Diego, Fernandez-Pelayo, Uxoa, Lopez de Arbina, Amaia, Muñoz-Oreja, Mikel, Villar-Fernandez, Marina, Dang, Thanh-mai Julie, Vergani, Lodovica, Johnston, Iain G., Pitceathly, Robert D. S., McFarland, Robert, Hanna, Michael G., Taylor, Robert W., Holt, Ian J., Spinazzola, Antonella

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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies von Metodiev, Metodi D., Thompson, Kyle, Alston, Charlotte L., Morris, Andrew A.M., He, Langping, Assouline, Zarah, Rio, Marlène, Bahi-Buisson, Nadia, Pyle, Angela, Griffin, Helen, Siira, Stefan, Filipovska, Aleksandra, Munnich, Arnold, Chinnery, Patrick F., McFarland, Robert, Rötig, Agnès, Taylor, Robert W.

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Toning up but powering down: does mitochondrial dysfunction lead to loss of ambulation in cerebral palsy? von McFarland, Robert

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The Effect of tRNA [Ser]Sec Isopentenylation on Selenoprotein Expression von Fradejas-Villar, Noelia, Bohleber, Simon, Zhao, Wenchao, Reuter, Uschi, Kotter, Annika, Helm, Mark, Knoll, Rainer, McFarland, Robert, Taylor, Robert W, Mo, Yufeng, Miyauchi, Kenjyo, Sakaguchi, Yuriko, Suzuki, Tsutomu, Schweizer, Ulrich

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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? von Repp, Birgit M, Mastantuono, Elisa, Alston, Charlotte L, Schiff, Manuel, Haack, Tobias B, Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J M, Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F M, Moroni, Isabella, Smet, Joél, Mayr, Johannes A, Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W, Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia

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

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Astrocytic pathology in Alpers' syndrome von Smith, Laura A, Chen, Chun, Lax, Nichola Z, Taylor, Robert W, Erskine, Daniel, McFarland, Robert

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Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency von Jiang, Huafang, Alahmad, Ahmad, Fu, Song, Fu, Xiaoling, Liu, Zhimei, Han, Xiaodi, Li, Lanlan, Song, Tianyu, Xu, Manting, Liu, Shanshan, Wang, Junling, Albash, Buthaina, Alaqeel, Ahmad, Catalina, Vasilescu, Prokisch, Holger, Taylor, Robert W., McFarland, Robert, Fang, Fang

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TRANscranial direct current stimulation for FOcal Refractory epilepsy in mitochondrial disease (TRANSFORM): delayed-start, randomised, double-blinded, placebo-controlled study von Bangel, Katrin A, Lim, Albert Z, Blain, Alasdair, Ng, Yi Shiau, Winder, Amy, Bulmer, Joseph, Gorman, Grainne, Baker, Mark, McFarland, Robert

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Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy von Sommerville, Ewen W, Ng, Yi Shiau, Alston, Charlotte L, Dallabona, Cristina, Gilberti, Micol, He, Langping, Knowles, Charlotte, Chin, Sophie L, Schaefer, Andrew M, Falkous, Gavin, Murdoch, David, Longman, Cheryl, de Visser, Marianne, Bindoff, Laurence A, Rawles, John M, Dean, John C. S, Petty, Richard K, Farrugia, Maria E, Haack, Tobias B, Prokisch, Holger, McFarland, Robert, Turnbull, Douglass M, Donnini, Claudia, Taylor, Robert W, Gorman, Gráinne S

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Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study von Bisschoff, Michelle, Smuts, Izelle, Dercksen, Marli, Schoonen, Maryke, Vorster, Barend C, van der Watt, George, Spencer, Careni, Naidu, Kireshnee, Henning, Franclo, Meldau, Surita, McFarland, Robert, Taylor, Robert W, Patel, Krutik, Fassad, Mahmoud R, Vandrovcova, Jana, Wanders, Ronald J A, van der Westhuizen, Francois H

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