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  • Emanuela Bruscia, Federica Carla Sangiuolo, Paola Sinibaldi, Kaarin K. Goncz, Giuseppe Novelli, Dieter C. Gruenert
  • Biology, Medicine
  • Gene Therapy
  • 2002 (First Publication: 1 June 2002)
  • Cystic fibrosis is the most common inherited disease in the Caucasian population. About 70% of all CF chromosomes carry the ΔF508 mutation, a 3-bp deletion that results in the loss of a phenylalanineContinue Reading
  • Federica Carla Sangiuolo, Emanuela Bruscia, +5 authors Giuseppe Novelli
  • Biology, Medicine
  • BMC Medical Genetics
  • 2002 (First Publication: 1 December 2002)
  • BackgroundSFHR (small fragment homologous replacement)-mediated targeting is a process that has been used to correct specific mutations in mammalian cells. This process involves both chemical andContinue Reading
  • Sabrina Semprini, F Capon, +7 authors Giuseppe Novelli
  • Biology, Medicine
  • Human Genetics
  • 1999 (First Publication: 10 March 1999)
  • We have recently assigned a locus for familial psoriasis (PS) susceptibility to the region containing the epidermal differentiation complex gene cluster on chromosome 1q21. Gene S100A7 maps withinContinue Reading
  • Federica Carla Sangiuolo, Antonio Filareto, +7 authors Giuseppe Novelli
  • Biology, Medicine
  • Human gene therapy
  • 2005 (First Publication: 20 June 2005)
  • The majority of patients affected by spinal muscular atrophy (SMA) have deletion of the survival of motor neuron 1 (SMN1) gene, but they retain a "nonfunctional" copy of the duplicate gene (SMN2) inContinue Reading