Muscle Hemangiomatosis Presenting as a Severe Feature in a Patient with the Pten Mutation: Expanding the Phenotype of Vascular Malformations in Bannayan-Riley-Ruvalcaba Syndrome

por Soysal, Y, Acun, T, Lourenço, CM, Marques, W, Yakıcıer, MC
Publicado 2012

Multi-system neurological disease is common in patients with OPA1 mutations

por Yu-Wai-Man, P., Griffiths, P.G., Gorman, G.S., Lourenco, C.M., Wright, A.F., Auer-Grumbach, M., Toscano, A., Musumeci, O., Valentino, M.L., Caporali, L., Lamperti, C., Tallaksen, C.M., Duffey, P., Miller, J., Whittaker, R.G., Baker, M.R., Jackson, M.J., Clarke, M.P., Dhillon, B., Czermin, B., Stewart, J.D., Hudson, G., Reynier, P., Bonneau, D., Marques, W., Lenaers, G., McFarland, R., Taylor, R.W., Turnbull, D.M., Votruba, M., Zeviani, M., Carelli, V., Bindoff, L.A., Horvath, R., Amati-Bonneau, P., Chinnery, P.F.
Publicado 2010