Martin, Elodie M.

Top Publications

Top Publications Authored or Co-Authored by "Martin, Elodie M."

• 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
• Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

  American Journal of Human Genetics, Volume 82, No. 4, Year 2008, Citations 199
• Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

  American Journal of Human Genetics, Volume 92, No. 2, Year 2013, Citations 150