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Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression.
Wong CJ, Friedman SD, Snider L, Bennett SR, Jones TI, Jones PL, Shaw DWW, Blemker SS, Riem L, DuCharme O, Lemmers RJFL, van der Maarel SM, Wang LH, Tawil R, Statland JM, Tapscott SJ. Wong CJ, et al. Among authors: tapscott sj. Hum Mol Genet. 2024 Apr 8;33(8):698-708. doi: 10.1093/hmg/ddae007. Hum Mol Genet. 2024. PMID: 38268317
snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis.
Zheng D, Wondergem A, Kloet S, Willemsen I, Balog J, Tapscott SJ, Mahfouz A, van den Heuvel A, van der Maarel SM. Zheng D, et al. Among authors: tapscott sj. Hum Mol Genet. 2024 Jan 20;33(3):284-298. doi: 10.1093/hmg/ddad186. Hum Mol Genet. 2024. PMID: 37934801 Free PMC article.
The transcription factor DUX4 orchestrates translational reprogramming by broadly suppressing translation efficiency and promoting expression of DUX4-induced mRNAs.
Hamm DC, Paatela EM, Bennett SR, Wong CJ, Campbell AE, Wladyka CL, Smith AA, Jagannathan S, Hsieh AC, Tapscott SJ. Hamm DC, et al. Among authors: tapscott sj. PLoS Biol. 2023 Sep 25;21(9):e3002317. doi: 10.1371/journal.pbio.3002317. eCollection 2023 Sep. PLoS Biol. 2023. PMID: 37747887 Free PMC article.
Validation of the association between MRI and gene signatures in facioscapulohumeral dystrophy muscle: implications for clinical trial design.
Wong CJ, Friedman SD, Snider L, Bennett SR, Jones TI, Jones PL, Shaw DWW, Blemker SS, Riem L, DuCharme O, Lemmers RJFL, van der Maarel SRM, Wang LH, Tawil R, Statland JM, Tapscott SJ. Wong CJ, et al. Among authors: tapscott sj. bioRxiv [Preprint]. 2023 Feb 20:2023.02.20.529303. doi: 10.1101/2023.02.20.529303. bioRxiv. 2023. PMID: 36865168 Free PMC article. Updated. Preprint.
Facioscapulohumeral muscular dystrophy: the road to targeted therapies.
Tihaya MS, Mul K, Balog J, de Greef JC, Tapscott SJ, Tawil R, Statland JM, van der Maarel SM. Tihaya MS, et al. Among authors: tapscott sj. Nat Rev Neurol. 2023 Feb;19(2):91-108. doi: 10.1038/s41582-022-00762-2. Epub 2023 Jan 10. Nat Rev Neurol. 2023. PMID: 36627512 Review.
226 results