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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 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 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.
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
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 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.
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.
Journal articles
hal-01272602v1
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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.
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.
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 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.
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.
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.
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 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 articles
hal-03672757v1
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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.
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.
Journal articles
hal-04190879v1
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Limb girdle muscular dystrophy due to mutations in POMT2
Sofie Thurø Østergaard
,
Katherine Johnson
,
Tanya Stojkovic
,
Thomas Krag
,
Willem de Ridder
,
et al.
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.
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.
Journal articles
hal-03358253v1
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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.
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.
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.
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 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.
Journal articles
hal-03141478v1
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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.
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
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.
Journal articles
hal-02934725v1
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