The impact of testosterone therapy on quality of life in adolescents with Duchenne muscular dystrophy

por Wood, CL, Page, J, Foggin, J, Guglieri, M, Straub, V, Cheetham, TD
Publicado 2021

Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne muscular dystrophy

por Wood, C. L., Cheetham, T. D, Hollingsworth, K. G, Guglieri, M., Ailins-Sahun, Y., Punniyakodi, S., Mayhew, A., Straub, V.
Publicado 2019

DMD & BMD – CLINICAL: P.51 DMD Hub: demonstrating impact for DMD trials

por Heslop, E., Guglieri, M., Irvin, A., Turner, C., Crow, B., George, E., Johnson, A., Crossley, E., Muntoni, F., Straub, V.
Publicado 2020

Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

por Figueroa-Bonaparte, S, Hudson, J, Barresi, R, Polvikoski, T, Williams, T, Töpf, A, Harris, E, Hilton-Jones, D, Petty, R, Willis, T A, Longman, C, Dougan, C F, Parton, M J, Hanna, M G, Quinlivan, R, Farrugia, M E, Guglieri, M, Bushby, K, Straub, V, Lochmüller, H, Evangelista, T
Publicado 2016

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

por Donkervoort, S., Sabouny, R., Yun, P., Gauquelin, L., Chao, K. R., Hu, Y., Al Khatib, I., Töpf, A., Mohassel, P., Cummings, B. B., Kaur, R., Saade, D., Moore, S. A., Waddell, L. B., Farrar, M. A., Goodrich, J. K., Uapinyoying, P., Chan, S.H. S., Javed, A., Leach, M. E., Karachunski, P., Dalton, J., Medne, L., Harper, A., Thompson, C., Thiffault, I., Specht, S., Lamont, R. E., Saunders, C., Racher, H., Bernier, F. P., Mowat, D., Witting, N., Vissing, J., Hanson, R., Coffman, K. A., Hainlen, M., Parboosingh, J. S., Carnevale, A., Yoon, G., Schnur, R. E., Boycott, K. M., Mah, J. K., Straub, V., Foley, A. Reghan, Innes, A. M., Bönnemann, C. G., Shutt, T. E.
Publicado 2019