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Author

Denis Furling

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Open access Aug 2026

MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1

It is shown that muscle stem cells are activated and fuse with existing muscle fibres in myotonic dystrophy type 1, producing centrally located nuclei with altered gene-expression states and reshaping diseased muscle.

Vanessa Todorow, X. Lornage, Shinichiro Hayashi et al. · 0 citations
Review Aug 2026

Toward the clinical application of long-read sequencing in repeat-expansion disorders

This Perspective by the LRS-RED consortium discusses methodological, bioinformatic and diagnostic advances in long-read sequencing (LRS) for repeat-expansion disorders, highlighting the potential of LRS to reshape research and clinical practice.

L. Benarroch, J. Pešović, Marzia Rossato et al. · 0 citations

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