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Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.
Morali B, Miranda V, Raelson J, Grimard G, Glavas P, Audibert F, Dumont NA, Barone J, Bamshad M, Lemyre E, Campeau PM. Morali B, et al. Among authors: dumont na. Clin Genet. 2024 Oct;106(4):483-487. doi: 10.1111/cge.14570. Epub 2024 Jun 10. Clin Genet. 2024. PMID: 38856159
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schöls L, Michaud JL, Campeau PM, Haack TB, Dumont NA. Feichtinger RG, et al. Among authors: dumont na. Genet Med. 2019 Nov;21(11):2521-2531. doi: 10.1038/s41436-019-0532-z. Epub 2019 May 16. Genet Med. 2019. PMID: 31092906 Free article.
Clearance of defective muscle stem cells by senolytics restores myogenesis in myotonic dystrophy type 1.
Conte TC, Duran-Bishop G, Orfi Z, Mokhtari I, Deprez A, Côté I, Molina T, Kim TY, Tellier L, Roussel MP, Maggiorani D, Benabdallah B, Leclerc S, Feulner L, Pellerito O, Mathieu J, Andelfinger G, Gagnon C, Beauséjour C, McGraw S, Duchesne E, Dumont NA. Conte TC, et al. Among authors: dumont na. Nat Commun. 2023 Jul 19;14(1):4033. doi: 10.1038/s41467-023-39663-3. Nat Commun. 2023. PMID: 37468473 Free PMC article.
Apelin stimulation of the vascular skeletal muscle stem cell niche enhances endogenous repair in dystrophic mice.
Le Moal E, Liu Y, Collerette-Tremblay J, Dumontier S, Fabre P, Molina T, Dort J, Orfi Z, Denault N, Boutin J, Michaud J, Giguère H, Desroches A, Trân K, Ellezam B, Vézina F, Bedard S, Raynaud C, Balg F, Sarret P, Boudreault PL, Scott MS, Denault JB, Marsault E, Feige JN, Auger-Messier M, Dumont NA, Bentzinger CF. Le Moal E, et al. Among authors: dumont na. Sci Transl Med. 2024 Mar 20;16(739):eabn8529. doi: 10.1126/scitranslmed.abn8529. Epub 2024 Mar 20. Sci Transl Med. 2024. PMID: 38507466
42 results