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Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism.
Cell Death Dis. 2023 Nov 16;14(11):749. doi: 10.1038/s41419-023-06257-2.
Cell Death Dis. 2023.
PMID: 37973788
Free PMC article.
Neuromuscular disorders: finding the missing genetic diagnoses.
Koczwara KE, Lake NJ, DeSimone AM, Lek M.
Koczwara KE, et al.
Trends Genet. 2022 Sep;38(9):956-971. doi: 10.1016/j.tig.2022.07.001. Epub 2022 Jul 28.
Trends Genet. 2022.
PMID: 35908999
Review.
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Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle.
Zygmunt DA, Lam P, Ashbrook A, Koczwara K, Lek A, Lek M, Martin PT.
Zygmunt DA, et al.
J Neuromuscul Dis. 2023;10(5):797-812. doi: 10.3233/JND-221596.
J Neuromuscul Dis. 2023.
PMID: 37458043
Free PMC article.
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Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).
Ma K, Ng KK, Huang S, Lake NJ, Xu J, Lek A, Ge L, Woodman KG, Koczwara KE, Ho V, O'Connor CL, Joseph S, Brindley MA, Campbell KP, Lek M.
Ma K, et al. Among authors: koczwara ke.
bioRxiv [Preprint]. 2023 Nov 27:2023.07.12.548370. doi: 10.1101/2023.07.12.548370.
bioRxiv. 2023.
PMID: 37873263
Free PMC article.
Preprint.
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