OBO ID: DOID:3191

Citations

(9 total)

Term: nemaline myopathy

Lee, S., Eum, J., Park, S., Ki, S., Hwang, B.J., Kee, Y., Chae, J.H. (2021) TNNT1 myopathy with novel compound heterozygous mutations. Neuromuscular disorders : NMD. 32(2):176-184

Jirka, C., Pak, J.H., Grosgogeat, C.A., Marchetii, M.M., Gupta, V.A. (2019) Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in Nemaline Myopathy. Human molecular genetics. 28(15):2549-2560

Qiu, B., Ruston, J., Granzier, H., Justice, M.J., Dowling, J.J. (2019) Failure to identify modifiers of NEBULIN related nemaline myopathy in two pre-clinical models of the disease. Biology Open. 8(9):

Messineo, A.M., Gineste, C., Sztal, T.E., McNamara, E.L., Vilmen, C., Ogier, A.C., Hahne, D., Bendahan, D., Laing, N.G., Bryson-Richardson, R.J., Gondin, J., Nowak, K.J. (2018) L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy. Scientific Reports. 8:11490

Sztal, T.E., McKaige, E.A., Williams, C., Oorschot, V., Ramm, G., Bryson-Richardson, R.J. (2018) Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy. Acta neuropathologica communications. 6:40

Sztal, T.E., McKaige, E.A., Williams, C., Ruparelia, A.A., Bryson-Richardson, R.J. (2018) Genetic compensation triggered by actin mutation prevents the muscle damage caused by loss of actin protein. PLoS Genetics. 14:e1007212

Sztal, T.E., Ruparelia, A.A., Williams, C., Bryson-Richardson, R.J. (2016) Using Touch-evoked Response and Locomotion Assays to Assess Muscle Performance and Function in Zebrafish. Journal of visualized experiments : JoVE. (116)

Sztal, T.E., Zhao, M., Williams, C., Oorschot, V., Parslow, A.C., Giousoh, A., Yuen, M., Hall, T.E., Costin, A., Ramm, G., Bird, P.I., Busch-Nentwich, E.M., Stemple, D.L., Currie, P.D., Cooper, S.T., Laing, N.G., Nowak, K.J., Bryson-Richardson, R.J. (2015) Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function. Acta Neuropathologica. 130(3):389-406

Yuen, M., Sandaradura, S.A., Dowling, J.J., Kostyukova, A.S., Moroz, N., Quinlan, K.G., Lehtokari, V.L., 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., Davidson, A.E., Swanson, L.C., Brownstein, C.A., Gupta, V.A., Medne, L., Shannon, P., Martin, N., Bick, D.P., Flisberg, A., Holmberg, E., Van den Bergh, P., Lapunzina, P., Waddell, L.B., Sloboda, D.D., Bertini, E., Chitayat, D., Telfer, W.R., Laquerrière, A., Gregorio, C.C., Ottenheijm, C.A., 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) Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J. Clin. Invest.. 124(11):4693-708