Amato, A. A., Prior, Т. W., Barohn, R. J., Snyder, Р., Papp, A., Mendell, J. R. Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene. Neurology 43: 791-794, 1993.
Andreassi, C, Angelozzi, C, Tiziano, F. D., Vitali, Т., De Vincenzi, E., Boninsegna, A., Villanova, M., Bertini, E., Pini, A., Neri, G., Brahe, С. Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Europ. J. Hum. Genet. 12: 59-65, 2004.
Brichta, L., Holker, I., Haug, K., Klockgether, Т., Wirth, B. In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann. Neurol. 59: 970-975, 2006.
Chong, J. X., Ouwenga, R., Anderson, R. L., Waggoner, D. J., Ober, С. A population-based study of autosomal-recessive disease-causing mutations in a founder population. Am. J. Hum. Genet. 91: 608-620, 2012.
Czeizel, A., Hamula, J. «A Hungarian study on Werdnig-Hoffmann disease». J. Med. Genet. 26: 761-763, 1989.
Dejager, S., Bry-Gauillard, H., Bruckert, E., Eymard, В., Salachas, F., Leguern, E., Tardieu, S., Chadarevian, R., Giral, P., Turpin, G. A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. J. Clin. Endocr. Metab. 87: 3893-3901, 2002.
Hendrickson, В. С, Donohoe, С, Akmaev, V. R., Sugarman, E. A., Labrousse, P., Boguslavskiy, L., Flynn, K., Rohlfs, E. M., Walker, A., Allitto, В., Sears, C, Scholl, T. «Differences in SMN1 allele frequencies among ethnic groups within North America». (Letter) J. Med. Genet. 46: 641-644, 2009.
Lunn, M. R., Wang, С. H. «Spinal muscular atrophy». Lancet 371: 2120-2133, 2008.
Oprea, G. E., Kroeber, S., McWhorter, M. L., Rossoll, W., Mueller, S., Krawczak, M., Basseil, G. J., Beattie, С. E., Wirth, B. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science 320: 524-527, 2008.