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Frederique Magdinier

11
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793890

Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres

Camille Laberthonnière , Elva-María Novoa-Del-Toro , Mégane Delourme , Raphaël Chevalier , Natacha Broucqsault
Journal of Cachexia, Sarcopenia and Muscle, 2022, 13 (1), pp.621-635. ⟨10.1002/jcsm.12835⟩
Article dans une revue hal-03586975v1
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Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

María del Carmen Ortuño-Costela , Victoria Cerrada , Ana Moreno-Izquierdo , Inés García-Consuegra , Camille Laberthonnière
International Journal of Molecular Sciences, 2022, 23 (22), pp.13964. ⟨10.3390/ijms232213964⟩
Article dans une revue hal-04039822v1
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I.09 Induced pluripotent stem cells for modeling neuromuscular disorders: development of disease-specific assays, live cells functional testing and drug design

Mégane Delourme , Camille Laberthonnière , Stefano Testa , Leslie Caron , Frédérique Magdinier
Neuromuscular Disorders, 2022, 32, pp.S95. ⟨10.1016/j.nmd.2022.07.221⟩
Article dans une revue hal-04033677v1
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SMCHD1 is involved in de novo methylation of theDUX4-encoding D4Z4 macrosatellite

Camille Dion , Stéphane Roche , Camille Laberthonnière , Natacha Broucqsault , Virginie Mariot
iScience, 2022, 25 (2), pp.103757. ⟨10.1093/nar/gkz005⟩
Article dans une revue hal-02002680v1
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AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome

Camille Laberthonnière , Elva-María Novoa-Del-Toro , Raphaël Chevalier , Natacha Broucqsault , Vanitha Venkoba Rao
Biomedicines, 2021, 9 (7), pp.751. ⟨10.3390/biomedicines9070751⟩
Article dans une revue hal-03280671v1
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Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells

Kilian Mazaleyrat , Cherif Badja , Natacha Broucqsault , Raphaël Chevalier , Camille Laberthonnière
Cells, 2020, 9 (6), pp.1531. ⟨10.3390/cells9061531⟩
Article dans une revue hal-03080368v1

Mitochondrial function in skeletal myofibers is controlled by a TRF2‐SIRT3 axis over lifetime

Jérôme Robin-Ducellier , Maria‐sol Jacome Burbano , Han Peng , Olivier Croce , Jean Luc Thomas
Aging Cell, 2020, 19 (3), ⟨10.1111/acel.13097⟩
Article dans une revue hal-03080383v1
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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

Stéphane Roche , Camille Dion , Natacha Broucqsault , Camille Laberthonnière , Marie-Cécile Gaillard
Neurology Genetics, 2019, 5 (6), pp.e372. ⟨10.1212/NXG.0000000000000372⟩
Article dans une revue hal-02406985v1
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Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy.

Marie-Cécile Gaillard , Natacha Broucqsault , Julia Morere , Camille Laberthonnière , Camille Dion
Scientific Reports, 2019, 1, ⟨10.1038/s41598-019-46861-x⟩
Article dans une revue hal-01951503v2
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Bring It to an End: Does Telomeres Size Matter?

Camille Laberthonnière , Frédérique Magdinier , Jérôme Robin-Ducellier
Cells, 2019, 8 (1), pp.30. ⟨10.3390/cells8010030⟩
Article dans une revue hal-01992677v1