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Very low residual dystrophin quantity is associated with milder dystrophinopathy
de Feraudy Y, Yaou RB, Wahbi K, et al.
Annals of neurology, 2020
Avancées dans les dystrophies musculaires d'Emery-Dreifuss
Myoinfo (AFM-Téléthon), Bonne G, Ben Yaou R
Avancées de la recherche, Savoir & Comprendre, 2020, 10 p
Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy
Bertrand AT, Brull A, Azibani F, et al.
Cells, 2020, 9, 4
Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review
Waldrop MA, Yaou RB, Lucas KK, et al.
Journal of Neuromuscular Diseases, 2020, 7, 3, p 217
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Atalaia A, Thompson R, Corvo A, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 206
X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures
Brisset M, Ben Yaou R, Carlier RY, et al.
Neuromuscular disorders : NMD, 2019, 29, 9, p 678
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Wahbi K, Ben Yaou R, Gandjbakhch E, et al.
Circulation, 2019
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
De Ridder W, Nelson I, Asselbergh B, et al.
Neurology. Genetics, 2019, 5, 2
Cardiometabolic assessment of lamin A/C gene mutation carriers: A phenotype-genotype correlation.
Kwapich M, Kwapich M, Lacroix D, et al.
Diabetes & metabolism, 2018
Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies)
Fayssoil A, Nguyen LS, Ogna A, et al.
The American journal of cardiology, 2018
Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis
Fayssoil A, Ben Yaou R, Ogna A, et al.
PLoS ONE, 2018, 13, 1
miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context
Guilbaud M, Gentil C, Peccate C, et al.
Skeletal Muscle, 2018, 8, 1
Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation
Fayssoil A, Yaou RB, Ogna A, et al.
ESC heart failure, 2017, 4, 4, p 527
Genetic characterization of a French cohort of GNE-mutation negative inclusion body myopathy patients using exome sequencing
Cerino M, Gorokhova S, Laforêt P, et al.
Muscle & Nerve, 2017, 56, 5, p 993
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
Ben Yaou R, Hubert A, Nelson I, et al.
Neurology. Genetics, 2017, 3, 6
Anti-HMGCR Antibody-Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy
Tard C, Tiffreau V, Jaillette E, et al.
Neuropediatrics, 2017, 48, 6, p 473
eDystrophin : un nouvel outil dédié à une meilleure compréhension des dystrophinopathies
Ben Yaou R, Nicolas A, Le Rumeur E, et al.
Les Cahiers de Myologie, 2016, 13, p. 15-24
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms
Marey I, Ben Yaou R, Deburgrave N, et al.
Journal of Neuromuscular Diseases, 2016, 3, 2, p 227
Pediatric laminopathies: Whole-body MRI fingerprint and comparison with SEPN1-myopathy
Gómez-Andrés D, Dabaj I, Mompoint D, et al.
Muscle & Nerve, 2016, 54, 2, p 192
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC
Avila Smirnow D, Gueneau L, Batonnet-Pichon S, et al.
Revue neurologique, 2016, 172, 10, p 594
Première réunion franco-italienne des laminopathies et autres pathologies liées à l'enveloppe nucléaire : First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope
Yaou RB, de Sandre-Giovannoli A, Leturq F, et al.
médecine/sciences, 2015, 31, HS3, p 39
Becker muscular dystrophy severity is linked to the structure of dystrophin
Nicolas A, Raguénès-Nicol C, Ben Yaou R, et al.
Human molecular genetics, 2015, 24, 5, p 1267
Non-Ambulant Duchenne Patients Theoretically treatable by Exon 53 Skipping have severe Phenotype
Servais L, Montus M, Le Guiner C, et al.
Journal of Neuromuscular Diseases, 2015, 2, 3, p 269
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy
de Cid R, Ben Yaou R, Roudaut C, et al.
Neurology, 2015, 85, 24, p 2126
