Francesca Gualandi

Summary

Affiliation: University of Ferrara
Country: Italy

Publications

  1. pmc Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy
    Francesca Gualandi
    Section of Medical Genetics, Department of Medical Science, University of Ferrara, 44121 Ferrara, Italy
    Hum Gene Ther 23:1313-8. 2012
  2. doi request reprint Autosomal recessive Bethlem myopathy
    F Gualandi
    Dipartimento di Medicina Sperimentale e Diagnostica, Sezione di Genetica Medica, Universita di Ferrara, Ferrara, Italia 44100
    Neurology 73:1883-91. 2009
  3. doi request reprint Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy
    Elena Martoni
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Italy
    Hum Mutat 30:E662-72. 2009
  4. pmc Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report
    Elena Martoni
    Department of Medical Science, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    BMC Med Genet 14:59. 2013
  5. pmc Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
    Simona Brioschi
    Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy
    BMC Med Genet 13:73. 2012
  6. doi request reprint Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy
    Paola Rimessi
    Department of Experimental and Diagnostic Medicine, University of Ferrara, Italy
    Hum Gene Ther 21:1137-46. 2010
  7. doi request reprint Exon skipping-mediated dystrophin reading frame restoration for small mutations
    Pietro Spitali
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Italy
    Hum Mutat 30:1527-34. 2009
  8. pmc Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
    Matteo Bovolenta
    Department of Experimental and Diagnostic Medicine Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    BMC Med Genet 11:44. 2010
  9. pmc The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms
    Matteo Bovolenta
    Department of Medical Science, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    PLoS ONE 7:e45328. 2012
  10. pmc Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice
    Elena Bassi
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Via Fossato di Mortara 74, 44100 Ferrara, Italy
    J Biomed Biotechnol 2012:897076. 2012

Collaborators

Detail Information

Publications20

  1. pmc Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy
    Francesca Gualandi
    Section of Medical Genetics, Department of Medical Science, University of Ferrara, 44121 Ferrara, Italy
    Hum Gene Ther 23:1313-8. 2012
    ..This novel RNA modulation approach to correcting dominant mutations may represent a therapeutic strategy potentially applicable to a great variety of mutations and diseases...
  2. doi request reprint Autosomal recessive Bethlem myopathy
    F Gualandi
    Dipartimento di Medicina Sperimentale e Diagnostica, Sezione di Genetica Medica, Universita di Ferrara, Ferrara, Italia 44100
    Neurology 73:1883-91. 2009
    ..We have characterized the clinical, laboratory, and genetic features of autosomal recessive Bethlem myopathy in 2 unrelated patients...
  3. doi request reprint Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy
    Elena Martoni
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Italy
    Hum Mutat 30:E662-72. 2009
    ..These findings suggest a different transcriptional efficiency of a regulatory splicing mutation compared to a genomic deletion causing a splicing defect...
  4. pmc Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report
    Elena Martoni
    Department of Medical Science, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    BMC Med Genet 14:59. 2013
    ..Mutations within the C-terminal region of the COL6A1 gene are only detected in Ullrich/Bethlem patients on extremely rare occasions...
  5. pmc Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
    Simona Brioschi
    Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy
    BMC Med Genet 13:73. 2012
    ..Though preferential inactivation of the normal X chromosome has long been considered the principal mechanism behind disease manifestation in these females, supporting evidence is controversial...
  6. doi request reprint Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy
    Paola Rimessi
    Department of Experimental and Diagnostic Medicine, University of Ferrara, Italy
    Hum Gene Ther 21:1137-46. 2010
    ..Our results demonstrated for the first time the role of intronic splicing sequences in antisense modulation with implications in exon skipping-mediated therapeutic approaches...
  7. doi request reprint Exon skipping-mediated dystrophin reading frame restoration for small mutations
    Pietro Spitali
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Italy
    Hum Mutat 30:1527-34. 2009
    ..This behavior may be related to the effect of the mutations on exon skipping propensity, and highlights the complexity of identifying optimal AONs for skipping exons with small mutations...
  8. pmc Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
    Matteo Bovolenta
    Department of Experimental and Diagnostic Medicine Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    BMC Med Genet 11:44. 2010
    ....
  9. pmc The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms
    Matteo Bovolenta
    Department of Medical Science, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    PLoS ONE 7:e45328. 2012
    ....
  10. pmc Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice
    Elena Bassi
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Via Fossato di Mortara 74, 44100 Ferrara, Italy
    J Biomed Biotechnol 2012:897076. 2012
    ..Our data therefore demonstrate the long-term residual efficacy of this systemic low-dose treatment and confirm the protective effect nanoparticles exert on AON molecules...
  11. pmc Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy
    Camilla Pellegrini
    Department of Medical Science, University of Ferrara, Ferrara, Italy
    J Cell Physiol 228:1323-31. 2013
    ..The mitochondrial dysfunction occurring in DMD melanocytes could represent a promising cellular biomarker for monitoring dystrophinopathies also in response to pharmacological treatments...
  12. pmc The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy
    Marcella Neri
    Department of Experimental Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    BMC Med Genet 13:20. 2012
    ....
  13. doi request reprint The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice
    Alessandra Ferlini
    Section of Medical Genetics, Department of Medical Sciences, University of Ferrara, Italy
    Neuromuscul Disord 23:4-14. 2013
    ..Our aim is to offer an overview of the medical genetic approach on the dystrophin gene and dystrophinopathies with implications for clinical practice and therapeutic perspectives...
  14. pmc Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results
    Luciano Merlini
    Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, 44121 Ferrara, Italy
    Oxid Med Cell Longev 2011:139194. 2011
    ..These results suggest considering a trial of CsA or nonimmunosuppressive cyclosporins, that retains the PTP-desensitizing properties of CsA, as early as possible in UCMD patients when diaphragm is less compromised...
  15. doi request reprint Macrophages: a minimally invasive tool for monitoring collagen VI myopathies
    Francesca Gualandi
    Dipartimento di Medicina Sperimentale e Diagnostica, Sezione di Genetica Medica, Universita di Ferrara, Ferrara, Italy
    Muscle Nerve 44:80-4. 2011
    ..Collagen VI expression was tested in peripheral blood macrophages from patients with collagen VI-related myopathies and compared with muscle biopsy...
  16. pmc Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis
    Alessandra Ferlini
    Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy
    BMC Med Genet 11:64. 2010
    ....
  17. pmc A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
    Matteo Bovolenta
    Sezione di Genetica Medica, University of Ferrara, Italy
    BMC Genomics 9:572. 2008
    ..2 Mb DMD gene...
  18. doi request reprint Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array
    Matteo Bovolenta
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    Hum Mutat 33:572-81. 2012
    ..We therefore propose FluiDMD as a validated diagnostic biomarker for molecular profiling of dystrophinopathies...
  19. doi request reprint LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations
    Alberto Sensi
    Genetica Medica, Azienda Ospedaliero Universitaria di Ferrara, Universita di Ferrara, Italy
    Am J Med Genet A 155:1096-101. 2011
    ..We confirm the absence of otodental syndrome in heterozygous carriers, but report unilateral microtia in one of them. We also report on the involvement of the middle ear structures in LAMM Syndrome...
  20. pmc Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse
    Paola Rimessi
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    Mol Ther 17:820-7. 2009
    ..This nonviral approach may valuably improve the therapeutic usage of AONs in DMD as well as the delivery of RNA molecules with many implications in both basic research and medicine...