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Year | Number of Results |
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2021 | 1 |
2022 | 5 |
2023 | 2 |
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.
Nucleic Acids Res. 2023 Aug 11;51(14):7269-7287. doi: 10.1093/nar/gkad523.
Nucleic Acids Res. 2023.
PMID: 37334829
Free PMC article.
Complex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy.
Delourme M, Charlene C, Gerard L, Ganne B, Perrin P, Vovan C, Bertaux K, Nguyen K, Bernard R, Magdinier F.
Delourme M, et al.
Neurol Genet. 2023 May 16;9(3):e200076. doi: 10.1212/NXG.0000000000200076. eCollection 2023 Jun.
Neurol Genet. 2023.
PMID: 37200893
Free PMC article.
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Production of Innervated Skeletal Muscle Fibers Using Human Induced Pluripotent Stem Cells.
Delourme M, Broucqsault N, Mazaleyrat K, Magdinier F.
Delourme M, et al.
Methods Mol Biol. 2022;2454:231-239. doi: 10.1007/7651_2020_334.
Methods Mol Biol. 2022.
PMID: 33368020
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HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models.
Dard L, Hubert C, Esteves P, Blanchard W, Bou About G, Baldasseroni L, Dumon E, Angelini C, Delourme M, Guyonnet-Dupérat V, Claverol S, Fontenille L, Kissa K, Séguéla PE, Thambo JB, Nicolas L, Herault Y, Bellance N, Dias Amoedo N, Magdinier F, Sorg T, Lacombe D, Rossignol R.
Dard L, et al. Among authors: delourme m.
J Clin Invest. 2022 Apr 15;132(8):e131053. doi: 10.1172/JCI131053.
J Clin Invest. 2022.
PMID: 35230976
Free PMC article.
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[Facio-scapulo-humeral muscular dystrophy: towards a molecular diagnosis extended to FSHD2].
Magdinier F, Ganne B, Delourme M, Nguyen K, Bernard R.
Magdinier F, et al. Among authors: delourme m.
Med Sci (Paris). 2022 Dec;38 Hors série n° 1:52-54. doi: 10.1051/medsci/2022184. Epub 2023 Jan 16.
Med Sci (Paris). 2022.
PMID: 36649639
Free article.
French.
No abstract available.
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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. Among authors: delourme m.
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.
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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: delourme m.
Int J Mol Sci. 2022 Nov 12;23(22):13964. doi: 10.3390/ijms232213964.
Int J Mol Sci. 2022.
PMID: 36430443
Free PMC article.
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