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Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands.A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathyGenetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric ageMutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related DiseasesNon-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands.Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.Update of Emerinopathies’ clinical-genetic spectrum: the French network experience.A common French-Italian laminopathy registry – update & future prospects.An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.Erratum: Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric ageDe novo LMNA mutations cause a new form of congenital muscular dystrophy.Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis.Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy.Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.[First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope].miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context.Cardiometabolic assessment of lamin A/C gene mutation carriers: A phenotype-genotype correlationCardiac and Pulmonary Investigations in Bethlem MyopathyBecker muscular dystrophy severity is linked to the structure of dystrophinLaminopathies : un seul gène, de nombreuses pathologiesMuscular dystrophy with arrhythmia caused by loss-of-function mutations inVariable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylationFHL1 is a major host factor for chikungunya virus infectionDevelopment and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in LaminopathiesX-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures
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description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Rabah Ben Yaou
@ast
Rabah Ben Yaou
@en
Rabah Ben Yaou
@es
Rabah Ben Yaou
@nl
type
label
Rabah Ben Yaou
@ast
Rabah Ben Yaou
@en
Rabah Ben Yaou
@es
Rabah Ben Yaou
@nl
prefLabel
Rabah Ben Yaou
@ast
Rabah Ben Yaou
@en
Rabah Ben Yaou
@es
Rabah Ben Yaou
@nl
P108
P106
P108
P1153
6508058159
P31
P496
0000-0002-0492-3414