Santorelli, Filippo Maria

Top Publications

Top Publications Authored or Co-Authored by "Santorelli, Filippo Maria"

• 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 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
• Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

  American Journal of Human Genetics, Volume 91, No. 6, Year 2012, Citations 177
• Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

  FASEB Journal, Volume 24, No. 10, Year 2010, Citations 142