Serena Grossi

Summary

Country: Italy

Publications

  1. pmc Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations
    Serena Grossi
    SSD Lab, Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G, Gaslini, Genova, Italy
    Orphanet J Rare Dis 6:40. 2011
  2. pmc Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation
    Stefano Regis
    Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G Gaslini, Genova, Italy
    PLoS ONE 8:e73633. 2013
  3. doi request reprint Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles
    Serena Grossi
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Genova, Italy
    Hum Mutat 29:E220-30. 2008

Detail Information

Publications3

  1. pmc Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations
    Serena Grossi
    SSD Lab, Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G, Gaslini, Genova, Italy
    Orphanet J Rare Dis 6:40. 2011
    ..PLP1 mutations range from gene duplications of variable size found in 60-70% of patients to intragenic lesions present in 15-20% of patients...
  2. pmc Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation
    Stefano Regis
    Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G Gaslini, Genova, Italy
    PLoS ONE 8:e73633. 2013
    ....
  3. doi request reprint Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles
    Serena Grossi
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Genova, Italy
    Hum Mutat 29:E220-30. 2008
    ..It also emphasizes the importance of a comprehensive evaluation in MLD diagnosis including biochemical, enzymatic and molecular investigations...