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authIdHal_s : rabah-ben-yaou

The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Catherine Bladen , Karen Rafferty , Volker Straub , Soledad Monges , Angélica Moresco , et al.
Human Mutation, 2013, 34 (11), pp.1449 - 1457. ⟨10.1002/humu.22390⟩
Journal articles istex hal-01681801v1
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Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

Antonio Atalaia , Rabah Ben Yaou , Karim Wahbi , Annachiara de Sandre-Giovannoli , Corinne Vigouroux , et al.
Journal of Neuromuscular Diseases, 2021, pp.1 - 21. ⟨10.3233/jnd-200596⟩
Journal articles hal-03171665v1
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Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

Mathieu Cerino , Svetlana Gorokhova , Pascal Laforet , Rabah Ben Yaou , Emmanuelle Salort-Campana , et al.
Muscle & Nerve, 2017, 56, pp.993-997. ⟨10.1002/mus.25638⟩
Journal articles hal-01741741v1

Genetic characterization of a French cohort of GNE -mutation negative inclusion body myopathy patients using exome sequencing

Mathieu Cerino , Svetlana Gorokhova , P. Laforêt , R. Ben Yaou , Emmanuelle Salort-Campana , et al.
22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. 27, pp.S149, 2017, ⟨10.1016/j.nmd.2017.06.205⟩
Conference poster hal-03973434v1
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FHL1 is a major host factor for chikungunya virus infection

Laurent Meertens , Mohamed Lamine Hafirassou , Thérèse Couderc , Lucie Bonnet-Madin , Vasiliya Kril , et al.
Nature, 2019, 574 (7777), pp.259-263. ⟨10.1038/s41586-019-1578-4⟩
Journal articles inserm-02355424v2

LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families

R. Ben Yaou , T. Stojkovic , Mathieu Cerino , F. Duval , R. Juntas-Morales , et al.
24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S140, 2019, ⟨10.1016/j.nmd.2019.06.366⟩
Conference poster hal-03973478v1

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

France Nelson , France Stojkovic , France Allamand , France Leturcq , Henri-Marc Becane , et al.
Journal of Neuromuscular Diseases, 2015, 2 (3), pp.229 - 240. ⟨10.3233/JND-150093⟩
Journal articles hal-01681760v1
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Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

Rabah Ben Yaou , Claire L. Navarro , Susana Quijano-Roy , Anne T. Bertrand , Catherine Massart , et al.
European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2010.256⟩
Journal articles hal-00611256v1
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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Karim Wahbi , Rabah Ben Yaou , Estelle Gandjbakhch , Frédéric Anselme , Thomas Gossios , et al.
Circulation, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Journal articles hal-02237297v1
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Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data

Raphaël Porcher , Isabelle Desguerre , Helge Amthor , Brigitte Chabrol , Frédérique Audic , et al.
European Heart Journal, 2021, ⟨10.1093/eurheartj/ehab054⟩
Journal articles hal-03179750v1
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Clinical heterogeneity and phenotype/genotype findings in 5 families with &ITGYG1&IT deficiency

Rabah Ben Yaou , Aurelie Hubert , Isabelle Nelson , Julia R. Dahlqvist , David Gaist , et al.
Neurology Genetics, 2017, 3 (6), pp.e208. ⟨10.1212/NXG.0000000000000208⟩
Journal articles hal-04010378v2

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