Francesca Simonelli

Francesca Simonelli

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Francesca Simonelli

Publications by authors named "Francesca Simonelli"

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Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.

Int J Mol Sci 2019 Dec 20;21(1). Epub 2019 Dec 20.

Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', via Pansini 5, 80131 Naples, Italy.

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http://dx.doi.org/10.3390/ijms21010086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6982348PMC
December 2019

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.

Doc Ophthalmol 2019 10 2;139(2):151-160. Epub 2019 Jul 2.

Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn-Str. 7, 72076, Tuebingen, Germany.

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http://dx.doi.org/10.1007/s10633-019-09704-8DOI Listing
October 2019

Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials.

Ophthalmology 2019 09 22;126(9):1273-1285. Epub 2019 Jun 22.

Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Center for Cellular and Molecular Therapeutics, Inc., Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1016/j.ophtha.2019.06.017DOI Listing
September 2019

ASSOCIATION BETWEEN GENOTYPE AND DISEASE PROGRESSION IN ITALIAN STARGARDT PATIENTS: A Retrospective Natural History Study.

Retina 2019 Jul;39(7):1399-1409

Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.

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http://dx.doi.org/10.1097/IAE.0000000000002151DOI Listing
July 2019

Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function.

Ophthalmic Genet 2019 06 31;40(3):207-212. Epub 2019 May 31.

a Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences , University of Campania Luigi Vanvitelli , Naples , Italy.

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http://dx.doi.org/10.1080/13816810.2019.1616303DOI Listing
June 2019

CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia.

Invest Ophthalmol Vis Sci 2019 04;60(5):1547-1555

Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.18-25501DOI Listing
April 2019

Early posterior vitreous detachment is associated with LAMA5 dominant mutation.

Ophthalmic Genet 2019 02 27;40(1):39-42. Epub 2018 Dec 27.

a Neurology Clinic II, Department of Medical Sciences, Surgery, Neurology, Metabolic Diseases and Geriatrics , University of Campania Luigi Vanvitelli , Naples , Italy.

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1558261DOI Listing
February 2019

Standard, transepithelial and iontophoresis corneal cross-linking: clinical analysis of three surgical techniques.

Int Ophthalmol 2018 Dec 28;38(6):2585-2592. Epub 2017 Nov 28.

Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania "Luigi Vanvitelli", Via Sergio Pansini 5, 80131, Naples, Italy.

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http://dx.doi.org/10.1007/s10792-017-0772-3DOI Listing
December 2018

Usher Syndrome and Color Vision.

Curr Eye Res 2018 10 30;43(10):1295-1301. Epub 2018 Jul 30.

a Centre for Ophthalmology, Institute for Ophthalmic Research , University of Tuebingen , Tuebingen , Germany.

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http://dx.doi.org/10.1080/02713683.2018.1501804DOI Listing
October 2018

Nocturnal blood pressure patterns and cardiovascular outcomes in patients with masked hypertension.

J Clin Hypertens (Greenwich) 2018 09 29;20(9):1238-1246. Epub 2018 Jul 29.

Hypertension Unit, Division of Cardiology, Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sant'Andrea Hospital, University of Rome Sapienza, Rome, Italy.

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http://dx.doi.org/10.1111/jch.13361DOI Listing
September 2018

Achievement of multiple therapeutic targets for cardiovascular disease prevention: Retrospective analysis of real practice in Italy.

Clin Cardiol 2018 Jun 5;41(6):788-796. Epub 2018 Jun 5.

Division of Cardiology, Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, University of Rome Sapienza, Sant'Andrea Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/clc.22955DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6489822PMC
June 2018

Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome.

Ophthalmic Genet 2018 Jan-Feb;39(1):17-21. Epub 2017 Jul 13.

a Eye Clinic, Multidisciplinary Department of Medical , Surgical and Dental Sciences, University of Campania Luigi Vanvitelli , Naples , Italy.

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http://dx.doi.org/10.1080/13816810.2017.1329445DOI Listing
March 2018

Visual Cortex Activation in Patients With Stargardt Disease.

Invest Ophthalmol Vis Sci 2018 03;59(3):1503-1511

Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.

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http://dx.doi.org/10.1167/iovs.17-22900DOI Listing
March 2018

Triple Vectors Expand AAV Transfer Capacity in the Retina.

Mol Ther 2018 02 5;26(2):524-541. Epub 2017 Dec 5.

Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli 80078, Italy; Medical Genetics, Department of Advanced Biomedicine, Federico II University, Naples 80131, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15250016173059
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http://dx.doi.org/10.1016/j.ymthe.2017.11.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5835116PMC
February 2018

The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes.

G Ital Nefrol 2018 Feb;35(Suppl 70):95-100

Emeritus Professor of Nephrology, University of Campania Luigi Vanvitelli, Naples, Italy.

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February 2018

Morphological and Functional Retinal Assessment in Epiretinal Membrane Surgery.

Semin Ophthalmol 2017 10;32(6):751-758. Epub 2016 Aug 10.

a Department of Surgical and Morphological Sciences , University of Insurbia-Circolo Hospital , Varese , Italy.

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http://dx.doi.org/10.1080/08820538.2016.1177097DOI Listing
December 2017

Intrafamilial heterogeneity of congenital optic disc pit maculopathy.

Ophthalmic Genet 2017 May-Jun;38(3):267-272. Epub 2016 Jun 8.

a Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences , Second University of Naples , Naples , Italy.

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http://dx.doi.org/10.1080/13816810.2016.1188120DOI Listing
November 2017

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.

Genes (Basel) 2017 Oct 20;8(10). Epub 2017 Oct 20.

Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania Luigi Vanvitelli, via Pansini 5, Naples 80131, Italy.

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http://www.mdpi.com/2073-4425/8/10/280
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http://dx.doi.org/10.3390/genes8100280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664130PMC
October 2017

CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.

Retina 2017 Aug;37(8):1581-1590

*Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy; †Institut de la Vision, UMRS 1120 INSERM/UPMC, Paris, France; ‡Audiology Unit, Department of Neuroscience, Reproductive and Odontostomatologic Sciences, University of Naples Federico II, Naples, Italy; §Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany; ¶Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy; **Medical Genetics, Department of Translational Medicine, Federico II University, Naples, Italy; and ††Institut Pasteur, Collège de France, Paris, France.

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http://dx.doi.org/10.1097/IAE.0000000000001389DOI Listing
August 2017

Identifying fallers among ophthalmic patients using classification tree methodology.

PLoS One 2017 23;12(3):e0174083. Epub 2017 Mar 23.

Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0174083PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363841PMC
August 2017

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.

Eur J Hum Genet 2017 05 8;25(5):651-655. Epub 2017 Mar 8.

Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.

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http://dx.doi.org/10.1038/ejhg.2017.23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392360PMC
May 2017

Wearable Improved Vision System for Color Vision Deficiency Correction.

IEEE J Transl Eng Health Med 2017 2;5:3800107. Epub 2017 May 2.

Institute of High Performance Computing and NetworkingNational Research Council.

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http://dx.doi.org/10.1109/JTEHM.2017.2679746DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5418066PMC
May 2017

Systematic screening of Retinopathy in Diabetes (REaD project): an Italian implementation campaign.

Eur J Ophthalmol 2017 Mar 21;27(2):179-184. Epub 2016 Nov 21.

Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples - Italy.

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http://dx.doi.org/10.5301/ejo.5000912DOI Listing
March 2017

High Levels of Serum Ubiquitin and Proteasome in a Case of HLA-B27 Uveitis.

Int J Mol Sci 2017 Feb 26;18(3). Epub 2017 Feb 26.

Department of Experimental Medicine, Section of Pharmacology, Second University of Naples, Naples 80138, Italy.

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http://dx.doi.org/10.3390/ijms18030505DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5372521PMC
February 2017

Phytochemical Compounds and Protection from Cardiovascular Diseases: A State of the Art.

Biomed Res Int 2015 4;2015:918069. Epub 2015 Oct 4.

Department of Clinical and Molecular Medicine, School of Medicine and Psychology, Saint Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy ; IRCCS Neuromed, 86077 Pozzilli, Italy.

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http://www.hindawi.com/journals/bmri/2015/918069/
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http://dx.doi.org/10.1155/2015/918069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609427PMC
August 2016

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

Am J Med Genet A 2016 08 3;170(8):2196-9. Epub 2016 Jun 3.

Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37770DOI Listing
August 2016

Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial.

Lancet 2016 Aug 30;388(10045):661-72. Epub 2016 Jun 30.

Center for Advanced Retinal and Ocular Therapeutics, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA; F M Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA; Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/S0140-6736(16)30371-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351775PMC
August 2016

En Face Spectral-Domain Optical Coherence Tomography for the Monitoring of Lesion Area Progression in Stargardt Disease.

Invest Ophthalmol Vis Sci 2016 07;57(9):OCT247-52

Eye Clinic Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy.

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http://dx.doi.org/10.1167/iovs.15-18751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4968920PMC
July 2016

Functional improvement assessed by multifocal electroretinogram after Ocriplasmin treatment for vitreomacular traction.

BMC Ophthalmol 2016 Jul 18;16:110. Epub 2016 Jul 18.

Eye clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Via Sergio Pansini, 5, 80131, Naples, Italy.

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http://dx.doi.org/10.1186/s12886-016-0284-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949888PMC
July 2016

Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease.

Hum Mol Genet 2015 Dec 29;24(23):6811-25. Epub 2015 Sep 29.

Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli 80078, Italy, Medical Genetics, Department of Translational Medicine, Federico II University, Naples 80131, Italy

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http://dx.doi.org/10.1093/hmg/ddv386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634381PMC
December 2015

Cerebral Involvement in Stargardt's Disease: A VBM and TBSS Study.

Invest Ophthalmol Vis Sci 2015 Nov;56(12):7388-97

Institute of Biostructure and Bioimaging, National Research Council, Naples, Italy.

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http://dx.doi.org/10.1167/iovs.15-16899DOI Listing
November 2015

Ocriplasmin use in a selected case with preserved visual acuity.

BMC Ophthalmol 2015 Oct 29;15:146. Epub 2015 Oct 29.

Multidisciplinary Department of Medical, Surgical and Dental Sciences, Eye Clinic, Second University of Naples, Via Sergio Pansini, 5, 80131, Naples, Italy.

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http://dx.doi.org/10.1186/s12886-015-0141-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4625444PMC
October 2015

Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy.

Ophthalmology 2015 Apr 14;122(4):862-4. Epub 2015 Jan 14.

UCL Institute of Ophthalmology, University College London, London, UK; Moorfields Eye Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2014.11.019DOI Listing
April 2015

Gene therapy of inherited retinal degenerations: prospects and challenges.

Hum Gene Ther 2015 Apr;26(4):193-200

1 Telethon Institute of Genetics and Medicine (TIGEM) , Pozzuoli, Naples 80078, Italy .

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http://dx.doi.org/10.1089/hum.2015.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4410187PMC
April 2015

Vitreous substitutes: the present and the future.

Biomed Res Int 2014 4;2014:351804. Epub 2014 May 4.

Department of Surgical and Morphological Sciences, Section of Ophthalmology, School of Medicine, University of Insubria, Via Guicciardini 9, 21100 Varese, Italy.

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http://dx.doi.org/10.1155/2014/351804DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4024399PMC
February 2015

Photorefractive keratectomy on purely refractive accommodative esotropia.

Semin Ophthalmol 2015 Jan 16;30(1):25-8. Epub 2013 Aug 16.

Second University of Naples , Naples , Italy.

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http://dx.doi.org/10.3109/08820538.2013.810286DOI Listing
January 2015

Macular function and morphologic features in juvenile stargardt disease: longitudinal study.

Ophthalmology 2014 Dec 2;121(12):2399-405. Epub 2014 Aug 2.

Multidisciplinary Department of Medical, Surgical, and Dental Sciences, Eye Clinic, Second University of Naples, Naples, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2014.06.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4252720PMC
December 2014

Macular abnormalities in Italian patients with retinitis pigmentosa.

Br J Ophthalmol 2014 Jul 13;98(7):946-50. Epub 2014 Feb 13.

Multidisciplinary Department of Medical, Surgical and Dental Sciences, Eye Clinic, Second University of Naples, Naples, Italy.

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http://dx.doi.org/10.1136/bjophthalmol-2013-304082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078675PMC
July 2014

Expression of VEGF-A, Otx homeobox and p53 family genes in proliferative vitreoretinopathy.

Mediators Inflamm 2013 21;2013:857380. Epub 2013 Oct 21.

Department of Surgical and Morphological Sciences, Section of Ophthalmology, University of Insubria, Ospedale di Circolo, Via F. Guicciardini 9, 21100 Varese, Italy.

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http://dx.doi.org/10.1155/2013/857380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3818919PMC
June 2014

Resolvin D1 reduces the immunoinflammatory response of the rat eye following uveitis.

Mediators Inflamm 2012 10;2012:318621. Epub 2012 Dec 10.

Department of Ophthalmology, Second University of Naples, 80100 Naples, Italy.

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http://dx.doi.org/10.1155/2012/318621DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529870PMC
July 2013

Clinical and genetic features in Italian Bietti crystalline dystrophy patients.

Br J Ophthalmol 2013 Feb 6;97(2):174-9. Epub 2012 Dec 6.

Department of Ophthalmology, Seconda Università degli Studi di Napoli, Via S Panini, 5, Naples 80131, Italy.

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http://dx.doi.org/10.1136/bjophthalmol-2012-302469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3582089PMC
February 2013

Subretinal Fibrosis in Stargardt's Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation.

Case Rep Ophthalmol 2012 Sep 20;3(3):410-7. Epub 2012 Dec 20.

Department of Ophthalmology, Second University of Naples, Naples, Italy.

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http://dx.doi.org/10.1159/000345415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551412PMC
September 2012

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients.

Biomed Eng Online 2012 Jul 19;11:40. Epub 2012 Jul 19.

Department of Ophthalmology, Second University of Naples, Naples, Italy.

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http://dx.doi.org/10.1186/1475-925X-11-40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526436PMC
July 2012

Molecular epidemiology of Usher syndrome in Italy.

Mol Vis 2011 22;17:1662-8. Epub 2011 Jun 22.

Medical Genetics, Department of Reproductive Sciences, Development and Public Health, IRCCS-Burlo Garofolo Children Hospital, University of Trieste, Trieste, 34100 Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130723PMC
November 2011

An atypical form of Bietti crystalline dystrophy.

Ophthalmic Genet 2011 Jun 8;32(2):118-21. Epub 2011 Mar 8.

Department of Ophthalmology, Second University of Naples, Napoli, Italy.

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http://dx.doi.org/10.3109/13816810.2011.559653DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3155699PMC
June 2011

The human visual cortex responds to gene therapy-mediated recovery of retinal function.

J Clin Invest 2011 Jun 23;121(6):2160-8. Epub 2011 May 23.

Diffusion Tensor Image Analyses and Brain Morphometry Center, Department of Radiology, Children's Hospital of Philadelphia (CHOP), Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1172/JCI57377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3104779PMC
June 2011

Genotype-phenotype correlation in Italian families with Stargardt disease.

Ophthalmic Res 2005 May-Jun;37(3):159-67. Epub 2005 May 7.

Department of Ophthalmology, Second University of Naples, Naples, Italy.

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http://dx.doi.org/10.1159/000086073DOI Listing
August 2005

Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.

Ophthalmic Res 2004 Mar-Apr;36(2):82-8

Department of Ophthalmology, Second University of Naples, Naples, Italy.

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http://dx.doi.org/10.1159/000076886DOI Listing
April 2004

Serum oxidative and antioxidant parameters in a group of Italian patients with age-related maculopathy.

Clin Chim Acta 2002 Jun;320(1-2):111-5

Dipartimento di Clinica Oculistica, Facoltà di Medicina e Chirurgia, II Università di Napoli, Naples, Italy.

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http://dx.doi.org/10.1016/s0009-8981(02)00056-6DOI Listing
June 2002