Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene. by Sarkozy, A, Windpassinger, C, Hudson, J, Dougan, C, Lecky, B, Hilton-Jones, D, Eagle, M, Charlton, R, Barresi, R, Lochmüller, H, Bushby, K, Straub, V

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. by Evgrafov, O, Mersiyanova, I, Irobi, J, Van Den Bosch, L, Dierick, I, Leung, C, Schagina, O, Verpoorten, N, Van Impe, K, Fedotov, V, Dadali, E, Auer-Grumbach, M, Windpassinger, C, Wagner, K, Mitrovic, Z, Hilton-Jones, D, Talbot, K, Martin, J, Vasserman, N, Tverskaya, S, Polyakov, A, Liem, R, Gettemans, J, Robberecht, W, De Jonghe, P