Kreissl, M, Sandaradura, SA, Dowling, JJ, Kostyukova, AS, Moroz, N, Quinlan, KG, Lehtokari, V, Ravenscroft, G, Todd, EJ, Ceyhan-Birsoy, O, et al. G.O.2 Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle. Neuromuscular Disorders 24(9-10) : 792 -793 2014
view publication
Marttila, M, Lehtokari, VL, Marston, SB, Nyman, TA, Barnerias, C, Beggs, AH, Bertin, E, Ceyhan-Birsoy, Ö, Cintas, P, Gerard, M, et al. G.P.271 Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Neuromuscular Disorders 24(9-10) : 898 2014
view publication
Lamandé, SR, North, KN. Activating internal ribosome entry to treat Duchenne muscular dystrophy.. Nat Med 20(9) : 987 -988 2014
view publication
Marttila, M, Lehtokari, V-L, Marston, S, Nyman, TA, Barnerias, C, Beggs, AH, Bertini, E, Ceyhan-Birsoy, O, Cintas, P, Gerard, M, et al. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.. Hum Mutat 35(7) : 779 -790 2014
view publication
Champion, JA, Rose, KJ, Payne, JM, Burns, J, North, KN. Relationship between cognitive dysfunction, gait, and motor impairment in children and adolescents with neurofibromatosis type 1.. Dev Med Child Neurol 56(5) : 468 -474 2014
view publication