[P2.29]: Role of alternatively spliced disabled‐1 in developing retina von Gao, Z.G., Katyal, S.K., Monckton, E.M., Godbout, R.G.

Volltext

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patient... von Braida, Claudia, Stefanatos, Rhoda K.A., Adam, Berit, Mahajan, Navdeep, Smeets, Hubert J.M., Niel, Florence, Goizet, Cyril, Arveiler, Benoit, Koenig, Michel, Lagier-Tourenne, Clotilde, Mandel, Jean-Louis, Faber, Catharina G., de Die-Smulders, Christine E.M., Spaans, Frank, Monckton, Darren G.

Volltext

Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot–Marie–Tooth neuropathy and early hearing loss von Spaans, F, Faber, C G, Smeets, H J M, Hofman, P A M, Braida, C, Monckton, D G, de Die-Smulders, C E M

Volltext

Genetic risk underlying psychiatric and cognitive symptoms in Huntington's disease von Ellis, N., Tee, A., McAllister, B., Massey, T., McLauchlan, D., Stone, T., Correia, K., Loupe, J., Kim, K.H., Barker, D., Hong, E.P., Chao, M.J., Long, J.D., Lucente, D., Vonsattel, J.P.G., Pinto, R.M., Abu Elneel, K., Ramos, E.M., Mysore, J.S., Gillis, T., Wheeler, V.C., Medway, C., Hall, L., Kwak, S., Sampaio, C., Ciosi, M., Maxwell, A., Chatzi, A., Monckton, D.G., Orth, M., Landwehrmeyer, G.B., Paulsen, J.S., Shoulson, I., Myers, R.H., Duijn, E. van, Rickards, H., MacDonald, M.E., Lee, J.M., Gusella, J.F., Jones, L., Holmans, P.

Volltext bestellen