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., den Bergh, P. Van, 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.
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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G.O.2
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, den Bergh, P. Van, 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
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Tissue-specific expression and α-actinin binding properties of the Z-disc titin: implications for the nature of vertebrate Z-discs
Sorimachi, H, Freiburg, A, Kolmerer, B, Ishiura, S, Stier, G, Gregorio, C.C, Labeit, D, Linke, W.A, Suzuki, K, Labeit, S
Published in Journal of molecular biology (01.08.1997)
Published in Journal of molecular biology (01.08.1997)
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ORP3 splice variants and their expression in human tissues and hematopoietic cells
Collier, F M, Gregorio-King, C C, Apostolopoulos, J, Walder, K, Kirkland, M A
Published in DNA and cell biology (01.01.2003)
Published in DNA and cell biology (01.01.2003)
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