Denora, Paola Silvia

Top Publications

Top Publications Authored or Co-Authored by "Denora, Paola Silvia"

• 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
• Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

  Human Mutation, Volume 30, No. 3, Year 2009, Citations 69
• Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity

  Archives of Neurology, Volume 65, No. 3, Year 2008, Citations 58