Boukhris, Amir

Top Publications

Top Publications Authored or Co-Authored by "Boukhris, Amir"

• Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

  Brain, Volume 131, No. 3, Year 2008, Citations 213
• 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
• Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

  American Journal of Human Genetics, Volume 93, No. 1, Year 2013, Citations 144
• CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

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