Role of international registries in enhancing the care of familial hypercholesterolaemia

by Hammond, E., Watts, G., Rubinstein, Y., Farid, W., Livingston, M., Knowles, J., Lochmuller, H., Bellgard, M., Dawkins, Hugh
Published 2013

International Charter of principles for sharing bio-specimens and data

by Mascalzoni, D., Dove, E., Rubinstein, Y., Dawkins, Hugh, Kole, A., Mccormack, P., Woods, S., Riess, O., Schaefer, F., Lochmüller, H., Knoppers, B., Hansson, M.
Published 2015

Mutations and polymorphisms of the skeletal muscle a-actin gene (ACTA1)

by Laing, N., Dye, Danielle, Wallgren-Pettersson, C., Richard, G., Monnier, N., Lillis, S., Winder, T., Lochmüller, H., Graziano, C., Mitrani-Rosenbaum, S., Twomey, D., Sparrow, J., Beggs, A., Nowak, K.
Published 2009

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

by 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
Published 2016