Use of FGF-21 as a biomarker of mitochondrial disease in clinical practice av Morovat, A, Weerasinghe, G, Nesbitt, V, Hofer, M, Agnew, T, Quaghebeur, G, Sergeant, K, Fratter, C, Guha, N, Mirzazadeh, M, Poulton, J

The natural history of mitochondrial stroke-like episodes: observational cohort study from the UK av 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

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome av Manzoni, E, Carli, S, Gaignard, P, Schlieben, LD, Hirano, M, Ronchi, D, Gonzales, E, Shimura, M, Murayama, K, Okazaki, Y, Barić, I, Petkovic Ramadza, D, Karall, D, Mayr, J, Martinelli, D, La Morgia, C, Primiano, G, Santer, R, Servidei, S, Bris, C, Cano, A, Furlan, F, Gasperini, S, Laborde, N, Nesbitt, V

The clinical features and genetic characteristics of MT-ATP6-related mitochondrial disease: a national, observational study av 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

Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study av 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