243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22... by Poulton, J, Steffann, J, Burgstaller, J, McFarland, R

Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation. by Blakely, E, Poulton, J, Pike, M, Wojnarowska, F, Turnbull, D, McFarland, R, Taylor, R

Revisiting the clinical, histochemical and molecular spectrum of adult-onset adPEO associated with the C10Orf2 (PEO1) mutation by Gorman, G, Craig, K, Fratter, C, Ng, Y, Purvis, A, Field, R, Blakely, E, Poulton, J, McFarland, R, Turnbull, D, Taylor, R

Incidence of primary mitochondrial disease in children younger than 2 years presenting with acute liver failure by McKiernan, P, Ball, S, Santra, S, Foster, K, Fratter, C, Poulton, J, Craig, K, McFarland, R, Rahman, S, Hargreaves, I, Gupte, G, Sharif, K, Taylor, R

Incidence of primary mitochondrial disease in children presenting with acute liver failure under 2 years of age by McKiernan, P, Ball, S, Santra, S, Foster, K, Fratter, C, Poulton, J, Craig, K, McFarland, R, Rahman, S, Hargreaves, I, Gupte, G, Sharif, K, Taylor, R

The natural history of mitochondrial stroke-like episodes: observational cohort study from the UK by Ng, YS, Schaefer, A, Pitceathly, R, Nesbitt, V, Hall, J, Farrugia, M, Roberts, M, Poulton, J, Hanna, M, Taylor, RW, Turnbull, D, McFarland, R, Gorman, G

Host genotype-specific therapies can optimize the inflammatory response to mycobacterial infections. by Tobin, D, Roca, F, Oh, S, McFarland, R, Vickery, T, Ray, J, Ko, D, Zou, Y, Bang, N, Chau, T, Vary, J, Hawn, T, Dunstan, S, Farrar, J, Thwaites, G, King, M, Serhan, C, Ramakrishnan, L

Prion-like α-synuclein pathology in the brain of infants with Krabbe disease by Hatton, C, Ghanem, SS, Koss, DJ, Abdi, IY, Gibbons, E, Guerreiro, R, Bras, J, Walker, L, Gelpi, E, Heywood, W, Outeiro, TF, Attems, J, McFarland, R, Forsyth, R, El-Agnaf, OM, Erskine, D

The clinical features and genetic characteristics of MT-ATP6-related mitochondrial disease: a national, observational study by Ng, YS, Martikainen, M, Gorman, G, Blain, A, Bugiardini, E, Bunting, A, Schaefer, A, Alston, CL, Blakely, EL, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Chinnery, P, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, M, Pitceathly, R, Taylor, RW, Turnbull, D, McFarland, R

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect by Thompson, K, Mai, N, Oláhová, M, Scialó, F, Formosa, LE, Stroud, DA, Garrett, M, Lax, NZ, Robertson, FM, Jou, C, Nascimento, A, Ortez, C, Jimenez‐Mallebrera, C, Hardy, SA, He, L, Brown, GK, Marttinen, P, McFarland, R, Sanz, A, Battersby, BJ, Bonnen, PE, Ryan, MT, Chrzanowska‐Lightowlers, ZM, Lightowlers, RN

Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study by Ng, YS, Martikainen, MH, Gorman, GS, Blain, A, Bugiardini, E, Bunting, A, Schaefer, AM, Alston, CL, Blakely, EL, Sharma, S, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Roberts, M, Woodward, CE, Chinnery, PF, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, MG, Pitceathly, RDS, Taylor, RW, Turnbull, DM, McFarland, R

Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency by Alston, CL, Heidler, J, Dibley, MG, Kremer, LS, Taylor, LS, Fratter, C, French, CE, Glasgow, RIC, Feichtinger, RG, Delon, I, Pagnamenta, AT, Dolling, H, Lemonde, H, Aiton, N, Bjørnstad, A, Henneke, L, Gärtner, J, Thiele, H, Tauchmannova, K, Quaghebeur, G, Houstek, J, Sperl, W, Raymond, FL, Prokisch, H, Mayr, JA, McFarland, R, Poulton, J, Ryan, MT, Wittig, I, Henneke, M, Taylor, RW

Retrospective natural history of thymidine kinase 2 deficiency by Garone, C, Taylor, R, Nascimento, A, Poulton, J, Fratter, C, Domínguez-González, C, Evans, J, Loos, M, Isohanni, P, Suomalainen, A, Ram, D, Hughes, M, McFarland, R, Barca, E, Lopez Gomez, C, Jayawant, S, Thomas, N, Manzur, A, Kleinsteuber, K, Martin, M, Kerr, T, Gorman, G, Sommerville, E, Chinnery, P, Hofer, M, Karch, C, Ralph, J, Cámara, Y, Madruga-Garrido, M, Domínguez-Carral, J, Ortez, C, Emperador, S, Montoya, J, Chakrapani, A, Kriger, J, Schoenaker, R, Levin, B, Thompson, J, Long, Y, Rahman, S, Donati, M, DiMauro, S, Hirano, M

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? by Mastantuono, E, Repp, B, Alston, CL, Schiff, M, Haack, TB, Rotig, A, Ardissone, A, Lombes, A, Catarino, CB, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, HJ, Scurr, I, De Coo, IF, Moroni, I, Smet, J, Mayr, JA, De Meirleir, L, Schuelke, M, Zeviani, M, McFarland, R, Seneca, S, Klopstock, T, Meitinger, T, Strom, TM, Herberg, U, Sperl, W, Nassogne, M, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Taylor, RW, Haberle, J, Vockley, J, Prokisch, H, Wortmann, S