Rabah Ben Yaou
65
Documents
Publications
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
Poster de conférence
hal-04015316v1
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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
Poster de conférence
hal-03989163v1
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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
Poster de conférence
hal-03983888v1
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Treatabolome: a rare diseases treatment awareness project10th European Conference on Rare Diseases & Orphan Products 2020., May 2020, Virtual conference, Belgium
Poster de conférence
hal-03986996v1
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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⟩
Poster de conférence
hal-03973454v1
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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⟩
Poster de conférence
hal-03973478v1
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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
Poster de conférence
hal-03986950v1
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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⟩
Poster de conférence
hal-03973473v1
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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⟩
Poster de conférence
hal-03973445v1
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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⟩
Poster de conférence
hal-03973447v1
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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⟩
Poster de conférence
hal-03973434v1
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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⟩
Poster de conférence
hal-03973393v1
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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⟩
Poster de conférence
hal-03973411v1
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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⟩
Poster de conférence
hal-03973439v1
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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⟩
Communication dans un congrès
hal-04280227v1
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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
Communication dans un congrès
hal-03988621v1
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Cold Case: Patient with only one CAPN3 variantSolve-RD Annual Meeting 2021, Apr 2021, Virtual conference, Germany
Communication dans un congrès
hal-03988006v1
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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
Communication dans un congrès
hal-04004866v1
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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
Communication dans un congrès
hal-03983930v1
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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⟩
Communication dans un congrès
hal-03973469v1
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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
Communication dans un congrès
hal-03986922v1
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The LaminopathiesJournée de recherche clinique du CNMR Ile de France (Hôpital Necker Enfants Malades), Dec 2018, Paris, France
Communication dans un congrès
hal-03986882v1
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The French OPALE registry updateLMNA consortium Meeting at Institute of Health Carlos III – ISCIII, Oct 2017, Madrid, Spain
Communication dans un congrès
hal-03986859v1
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