Bertini, Enrico Silvio

Top Publications

Top Publications Authored or Co-Authored by "Bertini, Enrico Silvio"

• Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

  Nature Genetics, Volume 38, No. 6, Year 2006, Citations 390
• 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 the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

  Nature Genetics, Volume 29, No. 1, Year 2001, Citations 301
• Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

  Nature Genetics, Volume 41, No. 9, Year 2009, Citations 247
• RYR1 mutations are a common cause of congenital myopathies with central nuclei

  Annals of Neurology, Volume 68, No. 5, Year 2010, Citations 233