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Year Number of Results
2019 4
2020 2
2021 2
2022 2
2023 3
2024 0

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Page 1
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Laberthonnière C, Delourme M, Chevalier R, Dion C, Ganne B, Hirst D, Caron L, Perrin P, Adélaïde J, Chaffanet M, Xue S, Nguyen K, Reversade B, Déjardin J, Baudot A, Robin JD, Magdinier F. Laberthonnière C, et al. Nucleic Acids Res. 2023 Aug 11;51(14):7269-7287. doi: 10.1093/nar/gkad523. Nucleic Acids Res. 2023. PMID: 37334829 Free PMC article.
Bring It to an End: Does Telomeres Size Matter?
Laberthonnière C, Magdinier F, Robin JD. Laberthonnière C, et al. Cells. 2019 Jan 8;8(1):30. doi: 10.3390/cells8010030. Cells. 2019. PMID: 30626097 Free PMC article. Review.
Identification of the regulatory circuit governing corneal epithelial fate determination and disease.
Smits JGA, Cunha DL, Amini M, Bertolin M, Laberthonnière C, Qu J, Owen N, Latta L, Seitz B, Roux LN, Stachon T, Ferrari S, Moosajee M, Aberdam D, Szentmary N, van Heeringen SJ, Zhou H. Smits JGA, et al. Among authors: laberthonniere c. PLoS Biol. 2023 Oct 19;21(10):e3002336. doi: 10.1371/journal.pbio.3002336. eCollection 2023 Oct. PLoS Biol. 2023. PMID: 37856539 Free PMC article.
Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells-derived innervated muscle fibres.
Laberthonnière C, Novoa-Del-Toro EM, Delourme M, Chevalier R, Broucqsault N, Mazaleyrat K, Streichenberger N, Manel V, Bernard R, Salort Campana E, Attarian S, Nguyen K, Robin JD, Baudot A, Magdinier F. Laberthonnière C, et al. J Cachexia Sarcopenia Muscle. 2022 Feb;13(1):621-635. doi: 10.1002/jcsm.12835. Epub 2021 Dec 3. J Cachexia Sarcopenia Muscle. 2022. PMID: 34859613 Free PMC article.
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.
Ortuño-Costela MDC, Cerrada V, Moreno-Izquierdo A, García-Consuegra I, Laberthonnière C, Delourme M, Garesse R, Arenas J, Fuster García C, García García G, Millán JM, Magdinier F, Gallardo ME. Ortuño-Costela MDC, et al. Among authors: laberthonniere c. Int J Mol Sci. 2022 Nov 12;23(22):13964. doi: 10.3390/ijms232213964. Int J Mol Sci. 2022. PMID: 36430443 Free PMC article.
Mitochondrial function in skeletal myofibers is controlled by a TRF2-SIRT3 axis over lifetime.
Robin JD, Jacome Burbano MS, Peng H, Croce O, Thomas JL, Laberthonniere C, Renault V, Lototska L, Pousse M, Tessier F, Bauwens S, Leong W, Sacconi S, Schaeffer L, Magdinier F, Ye J, Gilson E. Robin JD, et al. Among authors: laberthonniere c. Aging Cell. 2020 Mar;19(3):e13097. doi: 10.1111/acel.13097. Epub 2020 Jan 28. Aging Cell. 2020. PMID: 31991048 Free PMC article.
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Dion C, Roche S, Laberthonnière C, Broucqsault N, Mariot V, Xue S, Gurzau AD, Nowak A, Gordon CT, Gaillard MC, El-Yazidi C, Thomas M, Schlupp-Robaglia A, Missirian C, Malan V, Ratbi L, Sefiani A, Wollnik B, Binetruy B, Salort Campana E, Attarian S, Bernard R, Nguyen K, Amiel J, Dumonceaux J, Murphy JM, Déjardin J, Blewitt ME, Reversade B, Robin JD, Magdinier F. Dion C, et al. Among authors: laberthonniere c. Nucleic Acids Res. 2019 Apr 8;47(6):2822-2839. doi: 10.1093/nar/gkz005. Nucleic Acids Res. 2019. PMID: 30698748 Free PMC article.
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.
Roche S, Dion C, Broucqsault N, Laberthonnière C, Gaillard MC, Robin JD, Lagarde A, Puppo F, Vovan C, Chaix C, Campana ES, Attarian S, Bartoli M, Bernard R, Nguyen K, Magdinier F. Roche S, et al. Among authors: laberthonniere c. Neurol Genet. 2019 Nov 14;5(6):e372. doi: 10.1212/NXG.0000000000000372. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 31872053 Free PMC article.
12 results