Rabah Ben Yaou
Publications
Publications
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P431 Steroid treatment may change natural history in congenital laminopathies28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S160, ⟨10.1016/j.nmd.2023.07.372⟩ |
Emery-Dreifuss disease and related disordersXXII Forum of Neuromuscular diseases of the Scientific Department of Neuromuscular Diseases of the Brazilian Academy of Neurology, Jun 2021, Virtual conference, Brazil |
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Cold Case: Patient with only one CAPN3 variantSolve-RD Annual Meeting 2021, Apr 2021, Virtual conference, Germany |
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Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathyNew Directions in Skeletal Muscle Biology, Jun 2020, Virtual conference (Covid), United States |
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New risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathiesCongress of the European-Society-of-Cardiology (ESC) / World Congress of Cardiology, Aug 2019, Paris, France. pp.5164 |
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LMNA-linked lipodystrophy : new insight on cardiovascular phenotypes9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom |
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Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. pp.S141, ⟨10.1016/j.nmd.2019.06.370⟩ |
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The LaminopathiesJournée de recherche clinique du CNMR Ile de France (Hôpital Necker Enfants Malades), Dec 2018, Paris, France |
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The French OPALE registry updateLMNA consortium Meeting at Institute of Health Carlos III – ISCIII, Oct 2017, Madrid, Spain |
Expérience de l’utilisation des corticoïdes dans les laminopathies de l’enfant32 ème congrès de la Société Française de Neurologie Pédiatrique, Marseille, Jan 2023, Marseille (FRANCE), France |
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Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy18èmes Journées de la Société Française de Myologie, Nov 2021, Saint Etienne, France |
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Treatabolome: a rare diseases treatment awareness project10th European Conference on Rare Diseases & Orphan Products 2020., May 2020, Virtual conference, Belgium |
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Treatabolome: a rare diseases treatment awareness projectESHG 2020.2 - European Human Genetics Virtual Conference, Jun 2020, Virtual conference, United Kingdom. Eur. J. Hum. Genet., 28 (Suppl 1), pp.P18.57.A, 2020 |
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Correlation between dystrophin espression and clinical phenotype using high-throughput digital immunoanalysis in Duchenne and Becker muscular dystrophy patients24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S90, 2019, ⟨10.1016/j.nmd.2019.06.199⟩ |
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LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S140, 2019, ⟨10.1016/j.nmd.2019.06.366⟩ |
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LES CORTICOIDES ORAUX, UNE OPTION THERAPEUTIQUE DANS LES LAMINOPATHIES CONGENITALES ?17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France |
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Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S138, 2019, ⟨10.1016/j.nmd.2019.06.359⟩ |
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Dystrophin quantification in Duchenne and Becker muscular dystrophy: correlation between dystrophin protein and clinical phenotype11th UK Neuromuscular Translational Research Conference, Apr 2018, Cambridge, United Kingdom. Neuromuscular Disorders, 28, pp.S7-S8, 2018, ⟨10.1016/S0960-8966(18)30310-9⟩ |
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BVES loss-of-function mutations in limb-girdle muscular dystrophy 2X with cardiac conduction disorders23rd International Annual Congress of the World-Muscle-Society (WMS), Oct 2018, Mendoza, Argentina. Neuromuscular Disorders, 28, pp.S59-S60, 2018, ⟨10.1016/j.nmd.2018.06.128⟩ |
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First results from the international LMNA -related congenital and childhood onset muscular dystrophy retrospective natural history study22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. 27, pp.S137-S138, 2017, ⟨10.1016/j.nmd.2017.06.165⟩ |
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Genetic characterization of a French cohort of GNE -mutation negative inclusion body myopathy patients using exome sequencing22nd 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⟩ |
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A novel INPP5K mutation in a sibship from the Reunion Island22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S110-S111, 2017, ⟨10.1016/j.nmd.2017.06.071⟩ |
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Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S138, 2017, ⟨10.1016/j.nmd.2017.06.167⟩ |