LeGuern, Éric

Top Publications

Top Publications Authored or Co-Authored by "LeGuern, Éric"

• Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

  Nature Genetics, Volume 25, No. 1, Year 2000, Citations 453
• 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
• Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

  American Journal of Human Genetics, Volume 72, No. 5, Year 2003, Citations 278
• A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

  Human Molecular Genetics, Volume 10, No. 4, Year 2001, Citations 245
• INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

  New England Journal of Medicine, Volume 365, No. 25, Year 2011, Citations 237