Ataluren treatment of patients with nonsense mutation dystrophinopathy von Bushby, Katharine, Finkel, Richard, Wong, Brenda, Barohn, Richard, Campbell, Craig, Comi, Giacomo P., Connolly, Anne M., Day, John W., Flanigan, Kevin M., Goemans, Nathalie, Jones, Kristi J., Mercuri, Eugenio, Quinlivan, Ros, Renfroe, James B., Russman, Barry, Ryan, Monique M., Tulinius, Mar, Voit, Thomas, Moore, Steven A., Lee Sweeney, H., Abresch, Richard T., Coleman, Kim L., Eagle, Michelle, Florence, Julaine, Gappmaier, Eduard, Glanzman, Allan M., Henricson, Erik, Barth, Jay, Elfring, Gary L., Reha, Allen, Spiegel, Robert J., O'donnell, Michael W., Peltz, Stuart W., Mcdonald, Craig M.

Volltext

Management strategies for CLN2 disease von Williams, Ruth E., DM, FRCPCH, Adams, Heather R., PhD, Blohm, Martin, MD, Cohen-Pfeffer, Jessica L., MD, de los Reyes, Emily, MD, Denecke, Jonas, MD, Drago, Kristen, RN, CHPPN, Fairhurst, Charlie, MBBS, FRCPCH, Frazier, Margie, PhD, Guelbert, Norberto, MD, PhD, Kiss, Szilárd, MD, Kofler, Annamaria, PT, Lawson, John A., BMed, FRACP, PhD, Lehwald, Lenora, MD, Leung, Mary-Anne, SRD, Mikhailova, Svetlana, MD, Mink, Jonathan W., MD, PhD, Nickel, Miriam, MD, Shediac, Renée, PhD, Sims, Katherine, MD, Specchio, Nicola, MD, PhD, Topcu, Meral, MD, von Löbbecke, Ina, PT, West, Andrea, MSc, Zernikow, Boris, MD, PhD, Schulz, Angela, MD, PhD

Volltext

The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy von Thangarajh, Mathula, Elfring, Gary L, Trifillis, Panayiota, McIntosh, Joseph, Peltz, Stuart W

Volltext

Expert opinion on the management of CLN2 disease von Schulz, Angela, Adams, Heather R., Blohm, Martin, Cohen-Pfeffer, Jessica L., de los Reyes, Emily, Denecke, Jonas, Drago, Kristen, Fairhurst, Charlie, Frazier, Margie, Guelbert, Norberto, Kiss, Szilárd, Kofler, Annamaria, Lawson, John, Lehwald, Lenora, Leung, Mary-Anne, Mikhailova, Svetlana, Mink, Jonathan W., Nickel, Miriam, Shediac, Renée, Sims, Katherine, Specchio, Nicola, Topcu, Meral, von Löbbecke, Ina, West, Andrea, Williams, Ruth E.

Volltext