List of works - Francesca Simonelli

A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene

article

A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.

scientific article

A novel mutation in the RDS gene in an Italian family with pattern dystrophy

scientific article published on August 2005

A novel mutation in the VMD2 gene in an Italian family with Best maculopathy

article

AAV-mediated photoreceptor transduction of the pig cone-enriched retina

scientific article

AAV2 gene therapy readministration in three adults with congenital blindness.

scientific article

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

scientific article

An Atypical Form of Bietti Crystalline Dystrophy ⬇️

scientific article published on March 8, 2011

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

scientific article published on 27 July 2016

Apolipoprotein E polymorphisms in age-related macular degeneration in an Italian population

scientific article published in November 2001

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

scientific article published on March 2004

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

scientific article

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

scientific article published on 31 May 2019

Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

scientific article

Clinical and genetic features in Italian Bietti crystalline dystrophy patients ⬇️

scientific article published on December 6, 2012

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

scientific article published on September 2007

Combined rod and cone transduction by adeno-associated virus 2/8.

scientific article published on 30 October 2013

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

article

Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy

scientific article

Development of a genotyping microarray for Usher syndrome

scientific article published on 08 September 2006

Early posterior vitreous detachment is associated with LAMA5 dominant mutation

scientific article published on 27 December 2018

Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors

scientific article published on 27 February 2014

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

scientific article published on July 2016

Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy

scientific article published on 29 July 2011

Evaluation of Ocular Gene Therapy in an Italian Patient Affected by Congenital Leber Amaurosis Type 2 Treated in Both Eyes.

scientific article

Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration

scientific article

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

scientific article published on 21 October 2013

Galactose-1-P-uridyl transferase activity in patients with congenital and infantile cataract

scientific article published on 01 November 1987

Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration

scientific article

Gene therapy of inherited retinal degenerations: prospects and challenges

scientific article

Genetics of diabetic retinopathy.

scientific article published in March 2001

Genotype-phenotype correlation in Italian families with Stargardt disease

scientific article published on 7 May 2005

IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.

scientific article published on 29 May 2014

Idebenone treatment in Leber's hereditary optic neuropathy.

scientific article published on 2 August 2011

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

scientific article

Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

scientific article published on August 2003

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains

scientific article (publication date: August 2001)

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

scientific article

Inhibition of ocular aldose reductase by a new benzofuroxane derivative ameliorates rat endotoxic uveitis

scientific article

Interplay between Intravitreal RvD1 and Local Endogenous Sirtuin-1 in the Protection from Endotoxin-Induced Uveitis in Rats

scientific article published on 9 June 2015

Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene

scientific article

Lipid peroxidation and human cataractogenesis in diabetes and severe myopia

scientific article

Macular abnormalities in Italian patients with retinitis pigmentosa. ⬇️

scientific article

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

scientific article

MicroRNA-restricted transgene expression in the retina

scientific article

Mitochondrial diabetes in children: seek and you will find it

scientific article published in 2012

Molecular and clinical characterization of albinism in a large cohort of Italian patients

scientific article

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

scientific article

Morphological and Functional Retinal Assessment in Epiretinal Membrane Surgery

scientific article published on 10 August 2016

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

scientific article (publication date: September 1999)

Mutations in IMPG1 cause vitelliform macular dystrophies.

scientific article published on 29 August 2013

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

scientific article

Photorefractive keratectomy on purely refractive accommodative esotropia.

scientific article

Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population.

scientific article published on 14 June 2006

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

scientific article published on 14 January 2015

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

scientific article published on 13 July 2017

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

scientific article published on July 19, 2012

Recombinant vectors based on porcine adeno-associated viral serotypes transduce the murine and pig retina

scientific article

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.

scientific article published on 30 June 2016

Safety and efficacy of gene transfer for Leber's congenital amaurosis

scientific article

Senile cataractic lenses do not accumulate galactitol in either lactose tolerant or intolerant subjects

scientific article published on 01 October 1993

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

article

Standard versus trans-epithelial collagen cross-linking in keratoconus patients suitable for standard collagen cross-linking

scientific article published on 18 March 2015

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

scientific article published on September 2012

Systemic human diseases as oxidative risk factors in cataractogenesis. II. Chronic renal failure

scientific article published on 01 December 1990

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

scientific article

The role of optical coherence tomography in an atypical case of oculocutaneous albinism: a case report.

scientific article published on January 2012

Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2

scientific article published on 6 March 2013

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype

scientific article

Vitreous substitutes: the present and the future

scientific article

List of works by Francesca Simonelli

A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene

A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.

A novel mutation in the RDS gene in an Italian family with pattern dystrophy

A novel mutation in the VMD2 gene in an Italian family with Best maculopathy

AAV-mediated photoreceptor transduction of the pig cone-enriched retina

AAV2 gene therapy readministration in three adults with congenital blindness.

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

An Atypical Form of Bietti Crystalline Dystrophy ⬇️

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Apolipoprotein E polymorphisms in age-related macular degeneration in an Italian population

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

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

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

Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

Clinical and genetic features in Italian Bietti crystalline dystrophy patients ⬇️

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

Combined rod and cone transduction by adeno-associated virus 2/8.

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy

Development of a genotyping microarray for Usher syndrome

Early posterior vitreous detachment is associated with LAMA5 dominant mutation

Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors

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

Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy

Evaluation of Ocular Gene Therapy in an Italian Patient Affected by Congenital Leber Amaurosis Type 2 Treated in Both Eyes.

Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration

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

Galactose-1-P-uridyl transferase activity in patients with congenital and infantile cataract

Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration

Gene therapy of inherited retinal degenerations: prospects and challenges

Genetics of diabetic retinopathy.

Genotype-phenotype correlation in Italian families with Stargardt disease

IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.

Idebenone treatment in Leber's hereditary optic neuropathy.

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains

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

Inhibition of ocular aldose reductase by a new benzofuroxane derivative ameliorates rat endotoxic uveitis

Interplay between Intravitreal RvD1 and Local Endogenous Sirtuin-1 in the Protection from Endotoxin-Induced Uveitis in Rats

Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene

Lipid peroxidation and human cataractogenesis in diabetes and severe myopia

Macular abnormalities in Italian patients with retinitis pigmentosa. ⬇️

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

MicroRNA-restricted transgene expression in the retina

Mitochondrial diabetes in children: seek and you will find it

Molecular and clinical characterization of albinism in a large cohort of Italian patients

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

Morphological and Functional Retinal Assessment in Epiretinal Membrane Surgery

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

Mutations in IMPG1 cause vitelliform macular dystrophies.

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

Photorefractive keratectomy on purely refractive accommodative esotropia.

Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population.

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

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

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

Recombinant vectors based on porcine adeno-associated viral serotypes transduce the murine and pig retina

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.

Safety and efficacy of gene transfer for Leber's congenital amaurosis

Senile cataractic lenses do not accumulate galactitol in either lactose tolerant or intolerant subjects

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

Standard versus trans-epithelial collagen cross-linking in keratoconus patients suitable for standard collagen cross-linking

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

Systemic human diseases as oxidative risk factors in cataractogenesis. II. Chronic renal failure

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

The role of optical coherence tomography in an atypical case of oculocutaneous albinism: a case report.

Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype

Vitreous substitutes: the present and the future