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authFullName_s : France Leturcq

Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review

Megan Waldrop , Rabah Ben Yaou , Karin Lucas , Ann Martin , Erin O’rourke , et al.
Journal of Neuromuscular Diseases, 2020, 7 (3), pp.217-229. ⟨10.3233/JND-200483⟩
Journal articles inserm-04010286v1
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A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

Andre Megarbane , Sami Bizzari , Asha Deepthi , Sandra Sabbagh , Hicham Mansour , et al.
Journal of Neuromuscular Diseases, 2022, 9 (1), pp.193-210. ⟨10.3233/JND-210652⟩
Journal articles hal-03538650v1
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The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD

Elena Gargaun , Sestina Falcone , Guilhem Sole , Julien Durigneux , Andoni Urtizberea , et al.
Biomedicines, 2021, 9 (2), pp.219. ⟨10.3390/biomedicines9020219⟩
Journal articles hal-03163543v1
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Captain Haddock's health issues in the adventures of Tintin. Comparison with Tintin's health issues

Eric Caumes , Loïc Epelboin , Geraldine Guermonprez , France Leturcq , Peter Clarke
La Presse Médicale, 2016, 45 (7-8), pp.e225 - e232. ⟨10.1016/j.lpm.2016.02.027⟩
Journal articles hal-01444927v1
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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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Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up.

Isabelle Desguerre , Christo Christov , Michele Mayer , Reinhard Zeller , Henri-Marc Becane , et al.
PLoS ONE, 2009, 4 (2), pp.e4347. ⟨10.1371/journal.pone.0004347⟩
Journal articles inserm-00447998v1
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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

Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies)

Abdallah Fayssoil , Lee Nguyen , Adam Ogna , Paris Meng , Olivier Nardi , et al.
American Journal of Cardiology, 2018, 122 (2), pp.353-355. ⟨10.1016/j.amjcard.2018.04.001⟩
Journal articles inserm-04015389v1
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Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies

Raquel Guimarães-Costa , Gorka Fernández-Eulate , Karim Wahbi , France Leturcq , Edoardo Malfatti , et al.
European Journal of Neurology, 2021, 28 (2), pp.660-669. ⟨10.1111/ene.14592⟩
Journal articles hal-03141476v2
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Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy

Abdallah Fayssoil , Nicolas Mansencal , Lee S. Nguyen , Olivier Nardi , Rabah Yaou , et al.
Journal of the American Heart Association, 2023, 12 (16), ⟨10.1161/JAHA.122.027231⟩
Journal articles hal-04190838v1
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New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.

Akiko Yanagisawa , Céline Bouchet , Peter Y. K. van den Bergh , Jean-Marie Cuisset , Louis Viollet , et al.
Neurology, 2007, 69 (12), pp.1254-60. ⟨10.1212/01.wnl.0000268489.60809.c4⟩
Journal articles inserm-00201941v1
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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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Emery-Dreifuss Muscular Dystrophy

Gisèle Bonne , France Leturcq , Rabah Ben Yaou
Gene Reviews, 2019
Journal articles hal-03292021v1
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Deep phenotyping of an international series of patients with late‐onset dysferlinopathy

Gorka Fernández-Eulate , Giorgia Querin , Ursula Moore , Anthony Behin , Marion Masingue , et al.
European Journal of Neurology, 2021, 28 (6), pp.2092-2102. ⟨10.1111/ene.14821⟩
Journal articles hal-03263341v1
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Diagnosis and management of Becker muscular dystrophy: the French guidelines

Armelle Magot , Karim Wahbi , France Leturcq , Sandrine Jaffre , Yann Péréon , et al.
Journal of Neurology, In press, ⟨10.1007/s00415-023-11837-5⟩
Journal articles hal-04161045v1
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Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains

Aurélien Perrin , Charles van Goethem , Corinne Thèze , Jacques Puechberty , Thomas Guignard , et al.
Journal of Molecular Diagnostics, In press, ⟨10.1016/j.jmoldx.2022.04.006⟩
Journal articles hal-03672757v1

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Mireille Cossée , Clotilde Lagier-Tourenne , Claire Seguela , Michel Mohr , France Leturcq , et al.
Neuromuscular Disorders, 2009, 19 (4), pp.255-60. ⟨10.1016/j.nmd.2009.02.003⟩
Journal articles istex inserm-00383333v1
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Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort

Édouard Berling , Camille Verebi , Nadia Venturelli , Stéphane Vassilopoulos , Anthony Béhin , et al.
European Journal of Neurology, 2023, 30 (8), pp.2506-2517. ⟨10.1111/ene.15832⟩
Journal articles hal-04190879v1

Limb girdle muscular dystrophy due to mutations in POMT2

Sofie Thurø Østergaard , Katherine Johnson , Tanya Stojkovic , Thomas Krag , Willem de Ridder , et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2018, 89 (5), pp.506-512. ⟨10.1136/jnnp-2017-317018⟩
Journal articles hal-03864445v1
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miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context

Marine Guilbaud , Christel Gentil , Cecile Peccate , Elena Gargaun , Isabelle Holtzmann , et al.
Skeletal Muscle, 2018, 8 (1), pp.15. ⟨10.1186/s13395-018-0161-2⟩
Journal articles hal-01792009v1
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Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion

Marco Spinazzi , Jerome Poupiot , Julien Cassereau , France Leturcq , Laurent Brunereau , et al.
Neuromuscular Disorders, 2021, 31 (5), pp.450-455. ⟨10.1016/j.nmd.2021.02.012⟩
Journal articles hal-03358253v1

Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging

Ivana Dabaj , Justine Ferey , Florent Marguet , Vianney Gilard , Carole Basset , et al.
Scientific Reports, 2021, 11 (1), ⟨10.1038/s41598-021-81090-1⟩
Journal articles hal-03212549v1
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Vers une généralisation du diagnostic prénatal non-invasif des maladies monogéniques ? État des lieux et perspectives

Camille Verebi , Victor Gravrand , Mathilde Pacault , Marie-Pierre Audrezet , Nathalie Couque , et al.
Gynécologie Obstétrique Fertilité & Sénologie, In press, ⟨10.1016/j.gofs.2023.07.005⟩
Journal articles hal-04185485v1
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Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D

Abdallah Fayssoil , Adam Ogna , Cendrine Chaffaut , Sylvie Chevret , Raquel Guimarães-Costa , et al.
PLoS ONE, 2016, 11 (4), pp.e0153095. ⟨10.1371/journal.pone.0153095⟩
Journal articles hal-01323875v1
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Improved cardiac outcomes by early treatment with angiotensin-converting enzyme inhibitors in Becker muscular dystrophy

Caroline Stalens , Leslie Motté , Anthony Béhin , Rabah Ben Yaou , France Leturcq , et al.
Journal of Neuromuscular Diseases, 2021, 8 (4), pp.495 - 502. ⟨10.3233/jnd-200620⟩
Journal articles hal-03464423v1
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Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy

Yvan de Feraudy , Rabah Ben Yaou , Karim Wahbi , Caroline Stalens , Amalia Stantzou , et al.
Annals of Neurology, 2021, 89 (2), pp.280-292. ⟨10.1002/ana.25951⟩
Journal articles hal-03141478v1

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

Juliette Nectoux , Rafael de Cid , Sylvain Baulande , France Leturcq , Jon Andoni Urtizberea , et al.
European Journal of Human Genetics, 2015, 23 (7), pp.929-934. ⟨10.1038/ejhg.2014.223⟩
Journal articles hal-02190709v1
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Sarcoglycanopathies: state of the art and therapeutic perspectives

Gorka Fernández-Eulate , France Leturcq , Pascal Laforêt , Isabelle Richard , Tanya Stojkovic
Médecine/Sciences, 2020, 36, pp.22-27. ⟨10.1051/medsci/2020243⟩
Journal articles hal-03156864v1
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X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

Inès Barthélémy , Nadège Calmels , Robert B Weiss , Laurent Tiret , Adeline Vulin , et al.
Skeletal Muscle, 2020, 10 (1), pp.23. ⟨10.1186/s13395-020-00239-0⟩
Journal articles hal-02934725v1