List of works - Rabah Ben Yaou

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

scientific article

A common French-Italian laminopathy registry – update & future prospects.

scientific article published on 11 November 2015

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy

scientific article

An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

scientific article published on 11 November 2015

Becker muscular dystrophy severity is linked to the structure of dystrophin

article

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

scientific article published in December 2002

Cardiac and Pulmonary Investigations in Bethlem Myopathy

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

scientific article published on 12 September 2016

Cardiometabolic assessment of lamin A/C gene mutation carriers: A phenotype-genotype correlation

article

Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors

scientific article

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

scientific article published on 18 December 2017

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation

scientific article published in January 2010

De novo LMNA mutations cause a new form of congenital muscular dystrophy

scientific article published in August 2008

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

scientific article published on 03 June 2019

Erratum: Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

scientific article

FHL1 is a major host factor for chikungunya virus infection

scientific article published on 25 September 2019

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.

scientific article

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

scientific article published on 09 January 2013

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

scientific article published in June 2009

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

scientific article published on September 2015

Laminopathies : un seul gène, de nombreuses pathologies

article

Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis.

scientific article published on 5 January 2018

Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.

scientific article published on 10 November 2010

Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy.

scientific article published in August 2013

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in

scientific article published on 01 April 2019

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

scientific article published on 27 August 2009

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.

scientific article published in May 2016

Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.

scientific article published on September 2015

Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.

scientific article published on 16 December 2015

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

scientific article published on 26 August 2013

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

scientific article

Update of Emerinopathies’ clinical-genetic spectrum: the French network experience.

scientific article published on 11 November 2015

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation

scientific article published on 15 May 2012

X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures

scientific article published on 19 June 2019

[First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope].

scientific article published on 6 November 2015

miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context.

scientific article published on 27 April 2018

List of works by Rabah Ben Yaou

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 common French-Italian laminopathy registry – update & future prospects.

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy

An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

Becker muscular dystrophy severity is linked to the structure of dystrophin

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

Cardiac and Pulmonary Investigations in Bethlem Myopathy

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

Cardiometabolic assessment of lamin A/C gene mutation carriers: A phenotype-genotype correlation

Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation

De novo LMNA mutations cause a new form of congenital muscular dystrophy

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Erratum: Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

FHL1 is a major host factor for chikungunya virus infection

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

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

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

Laminopathies : un seul gène, de nombreuses pathologies

Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis.

Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.

Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy.

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.

Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.

Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

Update of Emerinopathies’ clinical-genetic spectrum: the French network experience.

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation

X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures

[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.