| HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models L Dard, C Hubert, P Esteves, W Blanchard, L Baldasseroni, E Dumon, ... The Journal of Clinical Investigation 132 (8), 2022 | 18 | 2022 |
| Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres C Laberthonnière, EM Novoa‐del‐Toro, M Delourme, R Chevalier, ... Journal of Cachexia, Sarcopenia and Muscle 13 (1), 621-635, 2022 | 10 | 2022 |
| Generation of the first human in vitro model for McArdle disease based on iPSC technology MC Ortuño-Costela, V Cerrada, A Moreno-Izquierdo, I García-Consuegra, ... International Journal of Molecular Sciences 23 (22), 13964, 2022 | 5 | 2022 |
| Complex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy M Delourme, C Charlene, L Gerard, B Ganne, P Perrin, C Vovan, ... Neurology: Genetics 9 (3), e200076, 2023 | 4 | 2023 |
| Production of innervated skeletal muscle fibers using human induced pluripotent stem cells M Delourme, N Broucqsault, K Mazaleyrat, F Magdinier Induced Pluripotent Stem (iPS) Cells: Methods and Protocols, 231-239, 2020 | 3 | 2020 |
| SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome C Laberthonnière, R Chevalier, C Dion, M Delourme, D Hirst, J Adélaïde, ... bioRxiv, 2021.05. 17.444338, 2021 | 1 | 2021 |
| SMCHD1 genetic variants in type 2 FacioScapuloHumeral dystrophy and challenges in predicting pathogenicity and disease penetrance. F Magdinier, L Gerard, M Delourme, B Ganne, P Perrin, C Chaix, JP Trani, ... | | 2024 |
| In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype C Laberthonnière, M Delourme, R Chevalier, C Dion, B Ganne, D Hirst, ... Nucleic Acids Research 51 (14), 7269-7287, 2023 | | 2023 |
| La dystrophie facio-scapulo-humérale: du diagnostic aux aspects fonctionnels M Delourme Aix-Marseille, 2022 | | 2022 |
| Facio-scapulo-humeral muscular dystrophy: towards a molecular diagnosis extended to FSHD2 F Magdinier, B Ganne, M Delourme, K Nguyen, R Bernard Medecine sciences: M/S 38, 52-54, 2022 | | 2022 |
| Dystrophie musculaire facio-scapulo-humérale-Vers un diagnostic moléculaire étendu à la FSHD2 F Magdinier, B Ganne, M Delourme, K Nguyen, R Bernard médecine/sciences 38, 52-54, 2022 | | 2022 |
| I. 09 Induced pluripotent stem cells for modeling neuromuscular disorders: development of disease-specific assays, live cells functional testing and drug design M Delourme, C Laberthonnière, S Testa, L Caron, F Magdinier Neuromuscular Disorders 32, S95, 2022 | | 2022 |
