Charles, Perrine

Top Publications

Top Publications Authored or Co-Authored by "Charles, Perrine"

• Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

  Brain, Volume 140, No. 5, Year 2017, Citations 390
• Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

  Nature Genetics, Volume 39, No. 3, Year 2007, Citations 309
• Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

  Brain, Volume 132, No. 10, Year 2009, Citations 218
• Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

  American Journal of Human Genetics, Volume 93, No. 1, Year 2013, Citations 144
• Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

  JAMA Neurology, Volume 75, No. 5, Year 2018, Citations 97