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Frederique Magdinier

18
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nicolas-levy
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Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging

Jean Philippe Trani , Raphaël Chevalier , Leslie Caron , Claire El Yazidi , Natacha Broucqsault
Life Science Alliance, 2022, 5 (12), pp.e202201501. ⟨10.26508/lsa.202201501⟩
Article dans une revue hal-04034056v1
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HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models

Laetitia Dard , Christophe Hubert , Pauline Esteves , Wendy Blanchard , Ghina Bou About
JOURNAL OF CLINICAL INVESTIGATION, 2022, 132 (8), ⟨10.1172/JCI131053⟩
Article dans une revue hal-03780356v1
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miR-376a-3p and miR-376b-3p overexpression in Hutchinson-Gilford progeria fibroblasts inhibits cell proliferation and induces premature senescence

Diane Frankel , Valerie Delecourt , Elva-María Novoa-Del-Toro , Jérôme Robin-Ducellier , Coraline Airault
iScience, 2022, 25 (2), pp.103757. ⟨10.1016/j.isci.2022.103757⟩
Article dans une revue hal-03788582v1
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Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

Emmanuelle Salort-Campana , Farzad Fatehi , Sadia Beloribi-Djefaflia , Stéphane Roche , Karine Nguyen
International Journal of Molecular Sciences, 2020, 21 (6), pp.2221. ⟨10.3390/ijms21062221⟩
Article dans une revue hal-02533845v1
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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
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Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy

Karine Nguyen , Stéphane Roche , Erwan Donal , Sylvie Odent , Jean-Christophe Eicher
Circulation: Genomic and Precision Medicine, 2019, 12 (5), pp.e002500. ⟨10.1161/CIRCGEN.119.002500⟩
Article dans une revue hal-02140150v1
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Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

Karine Nguyen , Natacha Broucqsault , Charlene Chaix , Stéphane Roche , Jérôme Robin-Ducellier
Journal of Medical Genetics, inPress, ⟨10.1136/jmedgenet-2018-105949⟩
Article dans une revue hal-02140159v1
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Christopher Gordon , Shifeng Xue , Gökhan Yigit , Hicham Filali , Kelan Chen
Nature Genetics, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
Article dans une revue hal-01617529v1
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Karine Nguyen , Francesca Puppo , Stéphane Roche , Marie-Cécile Gaillard , Charlene Chaix
Human Mutation, 2017, 38 (10), pp.1432 - 1441. ⟨10.1002/humu.23304⟩
Article dans une revue hal-01614514v1
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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

Marie-Cécile Gaillard , Francesca Puppo , Stéphane Roche , Camille Dion , Emmanuelle Campana Salort
BMC Medical Genetics, 2016, 17, pp.66. ⟨10.1186/s12881-016-0328-9⟩
Article dans une revue hal-01378417v1
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Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Emmanuelle Salort Campana , Karine Nguyen , Rafaelle Bernard , Elisabeth Jouve , Guilhem Solé
Orphanet Journal of Rare Diseases, 2015, 10, pp.2. ⟨10.1186/s13023-014-0218-1⟩
Article dans une revue hal-01610016v1
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Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype

Francesca Puppo , Eugénie Dionnet , Marie-Cécile Gaillard , Pascaline Gaildrat , Christel Castro
Human Mutation, 2015, 36 (4), pp.443 - 453. ⟨10.1002/humu.22760⟩
Article dans une revue hal-01662841v1
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Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

Marie-Cécile Gaillard , Stéphane Roche , Camille Dion , Armand Tasmadjian , Gwenaelle Bouget
Neurology, 2014, 83 (8), pp.733-742. ⟨10.1212/WNL.0000000000000708⟩
Article dans une revue hal-01610019v1
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Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy.

Nathalie Caruso , Balàzs Herberth , Marc Bartoli , Francesca Puppo , Julie Dumonceaux
PLoS Genetics, 2013, 9 (6), pp.e1003550. ⟨10.1371/journal.pgen.1003550⟩
Article dans une revue hal-00862092v1
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Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Natacha Broucqsault , Julia Morere , Marie-Cécile Gaillard , Julie Dumonceaux , Julia Torrents
Human Molecular Genetics, 2013, 22 (20), pp.4206 - 4214. ⟨10.1093/hmg/ddt272⟩
Article dans une revue hal-01662672v1