CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. by Müller, J, Baumeister, S, Schara, U, Cossins, J, Krause, S, von der Hagen, M, Huebner, A, Webster, R, Beeson, D, Lochmüller, H, Abicht, A

Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy by Servais, L, Straathof, CSM, Schara, U, Klein, A, Leinonen, M, Hasham, S, Meier, T, De Waele, L, Gordish-Dressman, H, McDonald, CM, Mayer, OH, Voit, T, Mercuri, E, Buyse, GM

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. by Müller, J, Herczegfalvi, A, Vilchez, J, Colomer, J, Bachinski, L, Mihaylova, V, Santos, M, Schara, U, Deschauer, M, Shevell, M, Poulin, C, Dias, A, Soudo, A, Hietala, M, Aärimaa, T, Krahe, R, Karcagi, V, Huebner, A, Beeson, D, Abicht, A, Lochmüller, H

Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study by Chabanon, A, Seferian, AM, Daron, A, Péréon, Y, Cances, C, Vuillerot, C, De Waele, L, Cuisset, J-M, Laugel, V, Schara, U, Gidaro, T, Gilabert, S, Hogrel, J-Y, Baudin, P-Y, Carlier, P, Fournier, E, Lowes, LP, Hellbach, N, Seabrook, T, Toledano, E, Annoussamy, M, Servais, L

X-linked myotubular myopathy: A prospective international natural history study by Servais, L, Annoussamy, M, Lilien, C, Gidaro, T, Gargaun, E, Chê, V, Schara, U, Gangfuß, A, D'Amico, A, Dowling, JJ, Darras, BT, Daron, A, Hernandez, A, de Lattre, C, Arnal, J-M, Mayer, M, Cuisset, J-M, Vuillerot, C, Fontaine, S, Bellance, R, Biancalana, V, Buj-Bello, A, Hogrel, J-Y, Landy, H

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