Bifunctional Antisense Oligonucleotides Provide a Trans-Acting Splicing Enhancer That Stimulates SMN2 Gene Expression in Patient Fibroblasts von Skordis, Leigh A., Dunckley, Matthew G., Yue, Baigong, Eperon, Ian C., Muntoni, Francesco

Volltext

Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA von SKORDIS, Leigh A, DUNCKLEY, Matthew G, BURGLEN, Lydia, CAMPBELL, Louise, TALBOT, Kevin, PATEL, Shobna, MELKI, Judith, DAVIES, Kay E, DUBOWITZ, Victor, MUNTONI, Francesco

Volltext

Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I von Torelli, Silvia, Brown, Susan C., Brockington, Martin, Dolatshad, Nazanin F., Jimenez, Cecilia, Skordis, Leigh, Feng, Lucy H., Merlini, Luciano, Jones, David Hilton, Romero, Norma, Wewer, Ulla, Voit, Thomas, Sewry, Caroline A., Noguchi, Satoru, Nishino, Ichizo, Muntoni, Francesco

Volltext