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authFullName_s : France Leturcq
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Droplet Digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.

Lucie Orhant , Olivia Anselem , Mélanie Fradin , Pierre Hadrien Becker , Caroline Beugnet et al.
Prenatal Diagnosis, 2016, 36 (5), pp.397-406. ⟨10.1002/pd.4790⟩
Journal articles hal-01272602v1

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

France Tuffery-Giraud , Christophe Béroud , France Leturcq , Rabah Ben Yaou , Dalil Hamroun et al.
Human Mutation, 2009, 30 (6), pp.934 - 945. ⟨10.1002/humu.20976⟩
Journal articles hal-01681838v1
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Dystrophin's central domain forms a complex filament that becomes disorganized by in-frame deletions

Olivier Delalande , Anne-Elisabeth Molza , Raphael dos Santos Morais , Angélique Chéron , Emeline Pollet et al.
Journal of Biological Chemistry, 2018, 293 (18), pp.6637-6646. ⟨10.1074/jbc.M117.809798⟩
Journal articles hal-01795395v2
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Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy

Abdallah Fayssoil , Lee S Nguyen , Tanya Stojkovic , Helene Prigent , Robert Carlier et al.
Muscle & nerve. Supplement., 2022, 65 (1), pp.89-95. ⟨10.1002/mus.27432⟩
Journal articles hal-03521139v1
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Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.

Aurélie Nicolas , Céline Lucchetti-Miganeh , Rabah Ben Yaou , Jean-Claude Kaplan , Jamel Chelly et al.
Orphanet Journal of Rare Diseases, 2012, 7 (1), pp.45. ⟨10.1186/1750-1172-7-45⟩
Journal articles inserm-00736304v1
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Becker muscular dystrophy severity is linked to the structure of dystrophin.

Aurélie Nicolas , Céline Raguénès-Nicol , Rabah Ben Yaou , Sarah Ameziane-Le Hir , Angélique Chéron et al.
Human Molecular Genetics, 2015, 24 (5), pp.1267-79. ⟨10.1093/hmg/ddu537⟩
Journal articles hal-01117005v1
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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Karim Wahbi , Rabah Ben Yaou , Estelle Gandjbakhch , Frédéric Anselme , Thomas Gossios et al.
Circulation, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Journal articles hal-02237297v1

Clinical phenotypes as predictors of DMD exon 51 skipping therapy: a systematic review

Megan A. Waldrop , Rabah Ben Yaou , Karin K. Lucas , Ann Martin , Erin O’rourke et al.
2018 New Directions in Biology and Disease of Skeletal Muscle Conference, Jun 2018, New Orleans, Louisiane, United States
Conference poster hal-04015230v1