Three-dimensional analysis of mitochondrial crista ultrastructure in a patient with Leigh syndrome by in situ cryoelectron tomography by Siegmund, SE, Grassucci, R, Carter, SD, Barca, E, Farino, ZJ, Juanola-Falgarona, M, Zhang, P, Tanji, K, Hirano, M, Schon, EA, Frank, J, Freyberg, Z

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). by Poulton, J, Hirano, M, Spinazzola, A, Arenas Hernandez, M, Jardel, C, Lombès, A, Czermin, B, Horvath, R, Taanman, J, Rotig, A, Zeviani, M, Fratter, C

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome by 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

GGPS1 mutations cause muscular dystrophy/hearing loss/ovarian insufficiency syndrome by Foley, AR, Zou, Y, Dunford, JE, Rooney, J, Chandra, G, Xiong, H, Straub, V, Voit, T, Romero, N, Donkervoort, S, Hu, Y, Markello, T, Horn, A, Qebibo, L, Dastgir, J, Meilleur, KG, Finkel, RS, Fan, Y, Mamchaoui, K, Duguez, S, Nelson, I, Laporte, J, Santi, M, Malfatti, E, Maisonobe, T, Touraine, P, Hirano, M, Hughes, I, Bushby, K, Oppermann, U, Böhm, J, Jaiswal, JK, Stojkovic, T, Bönnemann, CG

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations by Rodríguez Cruz, P, Cossins, J, De Paula Estephan, E, Munell, F, Selby, K, Hirano, M, Maroofin, R, Mehrjardi, M, Chow, G, Carr, A, Manzur, A, Robb, S, Munot, P, Wei Liu, W, Banka, S, Fraser, H, De Goede, C, Zanoteli, E, Conti Reed, U, Sage, A, Gratacos, M, Macaya, A, Dusl, M, Senderek, J, Töpf, A, Hofer, M, Knight, R, Ramdas, S, Jayawant, S, Lochmüller, H, Palace, J, Beeson, D

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency by Hathazi, D, Griffin, H, Jennings, MJ, Giunta, M, Powell, C, Pearce, SF, Munro, B, Wei, W, Boczonadi, V, Poulton, J, Pyle, A, Calabrese, C, Gomez-Duran, A, Schara, U, Pitceathly, RDS, Hanna, MG, Joost, K, Cotta, A, Paim, JF, Navarro, MM, Duff, J, Mattman, A, Chapman, K, Servidei, S, Della Marina, A, Uusimaa, J, Roos, A, Mootha, V, Hirano, M, Tulinius, M, Giri, M, Hoffmann, EP, Lochmüller, H, DiMauro, S, Minczuk, M, Chinnery, PF, Müller, JS, Horvath, R

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