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Page 1
Elusive sources of variability of dystrophin rescue by exon skipping.
Vila MC, Klimek MB, Novak JS, Rayavarapu S, Uaesoontrachoon K, Boehler JF, Fiorillo AA, Hogarth MW, Zhang A, Shaughnessy C, Gordish-Dressman H, Burki U, Straub V, Lu QL, Partridge TA, Brown KJ, Hathout Y, van den Anker J, Hoffman EP, Nagaraju K. Vila MC, et al. Among authors: burki u. Skelet Muscle. 2015 Dec 1;5:44. doi: 10.1186/s13395-015-0070-6. eCollection 2015. Skelet Muscle. 2015. PMID: 26634117 Free PMC article.
Effects of Chronic, Maximal Phosphorodiamidate Morpholino Oligomer (PMO) Dosing on Muscle Function and Dystrophin Restoration in a Mouse Model of Duchenne Muscular Dystrophy.
Benny Klimek ME, Vila MC, Edwards K, Boehler J, Novak J, Zhang A, Van der Meulen J, Tatum K, Quinn J, Fiorillo A, Burki U, Straub V, Lu QL, Hathout Y, van Den Anker J, Partridge TA, Morales M, Hoffman E, Nagaraju K. Benny Klimek ME, et al. Among authors: burki u. J Neuromuscul Dis. 2021;8(s2):S369-S381. doi: 10.3233/JND-210701. J Neuromuscul Dis. 2021. PMID: 34569970
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.
Harris E, Burki U, Marini-Bettolo C, Neri M, Scotton C, Hudson J, Bertoli M, Evangelista T, Vroling B, Polvikoski T, Roberts M, Töpf A, Bushby K, McArthur D, Lochmüller H, Ferlini A, Straub V, Barresi R. Harris E, et al. Among authors: burki u. Neuromuscul Disord. 2017 Sep;27(9):861-872. doi: 10.1016/j.nmd.2017.05.002. Epub 2017 May 4. Neuromuscul Disord. 2017. PMID: 28624464