2008
M. – L. Sveen, Thune, J. Jakob, Køber, L., and Vissing, J., “Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy.”, Archives of neurology, vol. 65, pp. 1196–201, 2008.
M. Guglieri, Magri, F., D’Angelo, M. Grazia, Prelle, A., Morandi, L., Rodolico, C., Cagliani, R., Mora, M., Fortunato, F., Bordoni, A., Del Bo, R., Ghezzi, S., Pagliarani, S., Lucchiari, S., Salani, S., Zecca, C., Lamperti, C., Ronchi, D., Aguennouz, M., Ciscato, P., Di Blasi, C., Ruggieri, A., Moroni, I., Turconi, A., Toscano, A., Moggio, M., Bresolin, N., Comi, G. P., Angelo, M. Grazia D., Del Bo, R., and Di Blasi, C., “Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.”, Human Mutation, vol. 29, pp. 258–266, 2008.
K. Kobuke, Piccolo, F., Garringer, K. W., Moore, Sa, Sweezer, E., Yang, B., and Campbell, K. P., “A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice.”, Human molecular genetics, vol. 17, pp. 1201–13, 2008.
P. Delgado-Olguín, J Hernández-Hernández, M., Salamanca, F., Recillas-Targa, F., and Coral-Vázquez, R. M., “Identification of two E-boxes that negatively modulate the activity of MyoD on the alpha-sarcoglycan core promoter.”, Biochimica et biophysica acta, vol. 1779, pp. 74–80, 2008.
L. R. Rodino-Klapac, Lee, J. – S., Mulligan, R. C., Clark, K. R., and Mendell, J. R., “Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D.”, Neurology, vol. 71, pp. 240–7, 2008.
M. Bartoli, Gicquel, E., Barrault, L., Soheili, T., Malissen, M., Malissen, B., Vincent-Lacaze, N., Perez, N., Udd, B., Danos, O., and Richard, I., “Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.”, Human molecular genetics, vol. 17, pp. 1214–21, 2008.
P. T. Martin, G Shelton, D., Dickinson, P. J., Sturges, B. K., Xu, R., LeCouteur, R. A., Guo, L. T., Grahn, R. A., Lo, H. P., North, K. N., Malik, R., Engvall, E., and Lyons, La, “Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats.”, Neuromuscular disorders : NMD, vol. 18, pp. 942–52, 2008.
L. Klinge, Dekomien, G., Aboumousa, A., Charlton, R., Epplen, J. T., Barresi, R., Bushby, K., and Straub, V., “Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?”, Neuromuscular disorders : NMD, vol. 18, pp. 934–41, 2008.
1997