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Displaying 3 results.
    • Journal article
    G.O.2: Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle
    Kreissl, M. Sandaradura, S.A. Dowling, J.J. Kostyukova, A.S. Moroz, N. Quinlan, K.G. Lehtokari, V. Ravenscroft, G. Todd, E.J. Ceyhan-Birsoy, O. Gokhin, D.S. Maluenda, J. Lek, M. Nolent, F. Pappas, C.T. Novak, S.M. D’Amico, A. Malfatti, E. Thomas, B.P. Gabriel, S.B. Gupta, N. Daly, M.J. Ilkovski, B. Houweling, P.J. Swanson, L.C. Brownstein, C.A. Gupta, V.A. Medne, L. Shannon, P. Flisberg, A. Holmberg, E. Van den Bergh, Peter[UCL] Lapunzina, P. Waddell, L.B. Sloboda, D.D. Bertini, E. Chitayat, D. Telfer, W.R. Laquerrière, A. Gregorio, C.C. Ottenheijm, C.A.C. Bönnemann, C.G. Pelin, K. Beggs, A.H. Hayashi, Y.K. Romero, N.B. Laing, N.G. Nishino, I. Wallgren-Pettersson, C. Melki, J. Fowler, V.M. MacArthur, D.G. North, K.N. Clarke, N.F. (2014) Neuromuscular Disorders — Vol. 24, no. 9-10, p. 792-793 (2014)
    • Journal article
    Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle
    Nicole, S Desforges, B Millet, G Lesbordes, J Cifuentes-Diaz, C Vertes, D Cao, ML. De Backer, Fabienne[UCL] Languille, L Roblot, N Joshi, V Gillis, Jean-Marie[UCL] Melki, J. (2003) The Journal of Cell Biology — Vol. 161, no. 3, p. 571-82 (2003)
    • Journal article
    Gene for Chronic Proximal Spinal Muscular Atrophies Maps To Chromosome-5q
    Melki, J. Abdelhak, S. Sheth, P. Bachelot, MF. Burlet, P. Marcadet, A. Aicardi, J. Barois, A. Carriere, JP. Fardeau, M. Fontan, D. Ponsot, G. Billette, T. Angelini, C. Barbosa, C. Ferrière, G. Lanzi, G. Ottolini, A. Babron, MC. Cohen, D. Hanauer, A. Clergetdarpoux, F. Lathrop, M. Munnich, A. Frezal, J. (1990) Nature : international weekly journal of science — Vol. 344, no. 6268, p. 767-768 (1990)