Fontaine, Bertrand

Top Publications

Top Publications Authored or Co-Authored by "Fontaine, Bertrand"

• 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
• 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
• Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

  American Journal of Human Genetics, Volume 74, No. 2, Year 2004, Citations 168
• Spectrum of HSPG2 (perlecan) mutations in patients with Schwartz-Jampel syndrome

  Human Mutation, Volume 27, No. 11, Year 2006, Citations 106
• CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

  Brain, Volume 132, No. 6, Year 2009, Citations 104