Davoine, Claire Sophie

Top Publications

Top Publications Authored or Co-Authored by "Davoine, Claire Sophie"

• Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

  Nature Genetics, Volume 26, No. 4, Year 2000, Citations 273
• Spectrum of HSPG2 (perlecan) mutations in patients with Schwartz-Jampel syndrome

  Human Mutation, Volume 27, No. 11, Year 2006, Citations 106
• Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

  JAMA Neurology, Volume 75, No. 5, Year 2018, Citations 97
• Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

  Genetics in Medicine, Volume 22, No. 11, Year 2020, Citations 89