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RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Brain. 2022 Nov 21;145(11):3770-3775. doi: 10.1093/brain/awac280.
Brain. 2022.
PMID: 35883251
First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene.
Miro J, Bougé AL, Murauer E, Beyne E, Da Cunha D, Claustres M, Koenig M, Tuffery-Giraud S.
Miro J, et al. Among authors: da cunha d.
Int J Mol Sci. 2020 Oct 21;21(20):7803. doi: 10.3390/ijms21207803.
Int J Mol Sci. 2020.
PMID: 33096920
Free PMC article.
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The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation.
Da Cunha D, Miro J, Van Goethem C, Notarnicola C, Hugon G, Carnac G, Cossée M, Koenig M, Tuffery-Giraud S.
Da Cunha D, et al.
Cell Mol Life Sci. 2024 Mar 21;81(1):150. doi: 10.1007/s00018-024-05188-1.
Cell Mol Life Sci. 2024.
PMID: 38512499
Free PMC article.
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