Richard, Pascale

Top Publications

Top Publications Authored or Co-Authored by "Richard, Pascale"

• Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

  American Journal of Human Genetics, Volume 85, No. 2, Year 2009, Citations 159
• Early onset collagen VI myopathies: Genetic and clinical correlations

  Annals of Neurology, Volume 68, No. 4, Year 2010, Citations 115
• New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

  Neurogenetics, Volume 5, No. 1, Year 2004, Citations 85
• Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

  Journal of Neurology, Volume 257, No. 5, Year 2010, Citations 69
• A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

  PLoS ONE, Volume 8, No. 1, Article e53826, Year 2013, Citations 46