Francesca Simonelli

Summary

Country: Italy

Publications

  1. pmc Clinical and genetic features in Italian Bietti crystalline dystrophy patients
    Settimio Rossi
    Department of Ophthalmology, Seconda Universita degli Studi di Napoli, Via S Panini, 5, Naples 80131, Italy
    Br J Ophthalmol 97:174-9. 2013
  2. pmc The role of optical coherence tomography in an atypical case of oculocutaneous albinism: a case report
    Settimio Rossi
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Case Report Ophthalmol 3:113-7. 2012
  3. pmc Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2
    Francesco Testa
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Ophthalmology 120:1283-91. 2013
  4. ncbi request reprint Retinal degeneration associated with ectopia lentis
    F Simonelli
    Eye Clinic, II University of Naples, Italy
    Ophthalmic Genet 20:121-6. 1999
  5. pmc Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration
    Francesca Simonelli
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Mol Ther 18:643-50. 2010
  6. doi request reprint A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene
    F Testa
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Br J Ophthalmol 92:1467-70. 2008
  7. ncbi request reprint Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene
    Francesca Simonelli
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Ophthalmic Res 39:255-9. 2007
  8. ncbi request reprint Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients
    Francesca Simonelli
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Invest Ophthalmol Vis Sci 48:4284-90. 2007
  9. ncbi request reprint Genotype-phenotype correlation in Italian families with Stargardt disease
    Francesca Simonelli
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Ophthalmic Res 37:159-67. 2005
  10. ncbi request reprint Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family
    Francesca Simonelli
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Ophthalmic Res 36:82-8. 2004

Collaborators

Detail Information

Publications27

  1. pmc Clinical and genetic features in Italian Bietti crystalline dystrophy patients
    Settimio Rossi
    Department of Ophthalmology, Seconda Universita degli Studi di Napoli, Via S Panini, 5, Naples 80131, Italy
    Br J Ophthalmol 97:174-9. 2013
    ..The aim of the study was to describe the clinical and genetic features of 15 Italian patients with Bietti crystalline dystrophy (BCD)...
  2. pmc The role of optical coherence tomography in an atypical case of oculocutaneous albinism: a case report
    Settimio Rossi
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Case Report Ophthalmol 3:113-7. 2012
    ....
  3. pmc Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2
    Francesco Testa
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Ophthalmology 120:1283-91. 2013
    ..The aim of this study was to show the clinical data of long-term (3-year) follow-up of 5 patients affected by Leber congenital amaurosis type 2 (LCA2) treated with a single unilateral injection of adeno-associated virus AAV2-hRPE65v2...
  4. ncbi request reprint Retinal degeneration associated with ectopia lentis
    F Simonelli
    Eye Clinic, II University of Naples, Italy
    Ophthalmic Genet 20:121-6. 1999
    ..The visual fields were constricted. We believe this to be the first report of retinal degeneration with bilateral lens subluxation in a family. It appears to be inherited in an autosomal recessive fashion...
  5. pmc Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration
    Francesca Simonelli
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Mol Ther 18:643-50. 2010
    ..The safety of the intervention and the stability of the improvement in visual and retinal function in these subjects support the use of AAV-mediated gene augmentation therapy for treatment of inherited retinal diseases...
  6. doi request reprint A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene
    F Testa
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Br J Ophthalmol 92:1467-70. 2008
    ..To describe clinical and genetic findings in an Italian family affected by Best disease...
  7. ncbi request reprint Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene
    Francesca Simonelli
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Ophthalmic Res 39:255-9. 2007
    ..To identify the phenotypic variations in 6 related individuals affected by a novel mutation in the retinal degeneration slow/peripherin gene...
  8. ncbi request reprint Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients
    Francesca Simonelli
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Invest Ophthalmol Vis Sci 48:4284-90. 2007
    ..To identify the molecular basis of Leber's congenital amaurosis (LCA) in a cohort of Italian patients and to perform genotype-phenotype analysis...
  9. ncbi request reprint Genotype-phenotype correlation in Italian families with Stargardt disease
    Francesca Simonelli
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Ophthalmic Res 37:159-67. 2005
    ....
  10. ncbi request reprint Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family
    Francesca Simonelli
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Ophthalmic Res 36:82-8. 2004
    ..Only a combination of comprehensive genotype/phenotype correlation studies will determine the proper diagnosis and prognosis of ABCA4-associated pathology...
  11. pmc Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families
    F Simonelli
    Department of Ophthalmology, Seconda Universita di Napoli, Naples, Italy Telethon Institute of Genetics and Medicine TIGEM, Italy
    Br J Ophthalmol 87:1130-4. 2003
    ..To describe the clinical phenotype of X linked juvenile retinoschisis in eight Italian families with six different mutations in the XLRS1 gene...
  12. ncbi request reprint Apolipoprotein E polymorphisms in age-related macular degeneration in an Italian population
    F Simonelli
    Department of Ophthalmology, Seconda Universita di Napoli, Italy
    Ophthalmic Res 33:325-8. 2001
    ..Our purpose was to investigate the role of apoE gene polymorphisms in Italian patients with age-related macular degeneration (AMD)...
  13. pmc An atypical form of Bietti crystalline dystrophy
    Settimio Rossi
    Department of Ophthalmology, Second University of Naples, Napoli, Italy
    Ophthalmic Genet 32:118-21. 2011
    ..To describe clinical and functional features of a patient with Bietti crystalline dystrophy and atypical electroretinogram responses...
  14. doi request reprint Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy
    Francesco Testa
    Department of Ophthalmology, Seconda Universita degli Studi di Napoli, Naples, Italy
    Invest Ophthalmol Vis Sci 52:5618-24. 2011
    ..To evaluate the suitability of gene delivery-based approaches as potential treatment of Leber congenital amaurosis 4 (LCA4) due to AIPL1 mutations...
  15. doi request reprint Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy
    Francesco Testa
    Department of Ophthalmology, Department of General Pathology, Seconda Universita degli Studi di Napoli, Naples, Italy
    Invest Ophthalmol Vis Sci 53:4409-15. 2012
    ....
  16. pmc Molecular and clinical characterization of albinism in a large cohort of Italian patients
    Annagiusi Gargiulo
    Telethon Institute of Genetics and Medicine TIGEM, Naples, Italy
    Invest Ophthalmol Vis Sci 52:1281-9. 2011
    ....
  17. pmc MicroRNA-restricted transgene expression in the retina
    Marianthi Karali
    Telethon Institute of Genetics and Medicine TIGEM, Naples, Italy
    PLoS ONE 6:e22166. 2011
    ..Here we evaluated the ability of retinal-expressed microRNAs to restrict AAV-mediated transgene expression to specific retinal cell types that represent the main targets of common inherited blinding conditions...
  18. pmc Combined rod and cone transduction by adeno-associated virus 2/8
    Anna Manfredi
    1 Telethon Institute of Genetics and Medicine, Naples 80131, Italy
    Hum Gene Ther 24:982-92. 2013
    ....
  19. ncbi request reprint Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa
    Ivan Conte
    Telethon Institute of Genetics and Medicine TIGEM, Via Pietro Castellino 111, 80129, Naples, Italy
    Gene 297:33-8. 2002
    ..Mutation analysis of the entire open reading frame of the MPP4 gene in a RP26 family revealed no pathologic mutations. In addition, we did not identify mutations in a panel of 300 unrelated patients with retinitis pigmentosa...
  20. ncbi request reprint Macular abnormalities in Italian patients with retinitis pigmentosa
    Francesco Testa
    Multidisciplinary Department of Medical, Surgical and Dental Sciences, Eye Clinic, Second University of Naples, Naples, Italy
    Br J Ophthalmol 98:946-50. 2014
    ..To investigate the prevalence of macular abnormalities in a large Caucasian cohort of patients affected by retinitis pigmentosa (RP)...
  21. doi request reprint Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase
    Gabriella Esposito
    CEINGE Biotecnologie Avanzate s c a r l, Naples, Italy
    Hum Mutat 32:1460-9. 2011
    ..Overall, our results indicate that the REP1-Rab geranyl-geranyl transferase interaction and consequently REP1-mediated Rab prenylation is essential for RPE and photoreceptor function...
  22. pmc The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
    Ivana Peluso
    Telethon Institute of Genetics and Medicine, Via Pietro Castellino, 111, Naples 80131, Italy
    Orphanet J Rare Dis 8:16. 2013
    ..We aimed at identifying a novel gene for an autosomal recessive form of early onset severe retinal dystrophy in a patient carrying no previously described mutations in known genes...
  23. pmc Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients
    Paolo Melillo
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Biomed Eng Online 11:40. 2012
    ....
  24. pmc Subretinal Fibrosis in Stargardt's Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation
    Settimio Rossi
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Case Report Ophthalmol 3:410-7. 2012
    ..To report on 4 patients affected by Stargardt's disease (STGD) with fundus flavimaculatus (FFM) and ABCA4 gene mutation associated with subretinal fibrosis...
  25. ncbi request reprint Serum oxidative and antioxidant parameters in a group of Italian patients with age-related maculopathy
    Francesca Simonelli
    Dipartimento di Clinica Oculistica, Facolta di Medicina e Chirurgia, II Universita di Napoli, Naples, Italy
    Clin Chim Acta 320:111-5. 2002
    ....
  26. pmc Mitochondrial diabetes in children: seek and you will find it
    Cristina Mazzaccara
    CEINGE Advanced Biotechnologies S C a R L, Naples, Italy
    PLoS ONE 7:e34956. 2012
    ..In fact, 91% of our patients were mutated in the complex I and/or IV genes. The enzymatic assay may be a useful tool with which to confirm the pathogenic significance of detected variants...
  27. pmc A novel mutation in the RDS gene in an Italian family with pattern dystrophy
    F Testa
    Br J Ophthalmol 89:1066-8. 2005