Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD

por Ugur Akpulat, Haicui Wang, Kerstin Becker, Adriana Contreras, Terence A. Partridge, James S. Novak, Sebahattin Cirak
Publicado 2018-12-01

A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy

por Haicui Wang, Anne Schänzer, Birgit Kampschulte, Hülya-Sevcan Daimagüler, Thushiha Logeswaran, Hannah Schlierbach, Jutta Petzinger, Harald Ehrhardt, Andreas Hahn, Sebahattin Cirak
Publicado 2018-08-01

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

por Robert D.S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Cirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain Hargreaves, Cathy E. Woodward, Mary G. Sweeney, Francesco Muntoni, Henry Houlden, Jan-Willem Taanman, Michael G. Hanna
Publicado 2013-06-01