The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment
Donato, Luigi, Alibrandi, Simona, Scimone, Concetta, Rinaldi, Carmela, Dascola, Angela, Calamuneri, Alessandro, D'Angelo, Rosalia, Sidoti, Antonina
Published in PloS one (09.12.2022)
Published in PloS one (09.12.2022)
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Journal Article
Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling
Donato, Luigi, Abdalla, Ebtesam Mohamed, Scimone, Concetta, Alibrandi, Simona, Rinaldi, Carmela, Nabil, Karim Mahmoud, D'Angelo, Rosalia, Sidoti, Antonina
Published in International journal of molecular sciences (27.03.2021)
Published in International journal of molecular sciences (27.03.2021)
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Journal Article
Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells
Scimone, Concetta, Donato, Luigi, Alibrandi, Simona, Esposito, Teresa, Alafaci, Concetta, D'Angelo, Rosalia, Sidoti, Antonina
Published in Biochimica et biophysica acta. Molecular basis of disease (01.12.2020)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.12.2020)
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Journal Article
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations
Rinaldi, Carmela, Bramanti, Placido, Scimone, Concetta, Donato, Luigi, Alafaci, Concetta, D'Angelo, Rosalia, Sidoti, Antonina
Published in Journal of the neurological sciences (15.09.2017)
Published in Journal of the neurological sciences (15.09.2017)
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Journal Article
Raman Spectroscopic Study of Amyloid Deposits in Gelatinous Drop-like Corneal Dystrophy
Acri, Giuseppe, Micali, Antonio, D'Angelo, Rosalia, Puzzolo, Domenico, Aragona, Pasquale, Testagrossa, Barbara, Aragona, Emanuela, Wylegala, Edward, Nowinska, Anna
Published in Journal of clinical medicine (04.03.2022)
Published in Journal of clinical medicine (04.03.2022)
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Journal Article
Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data
D'Angelo, Rosalia, Donato, Luigi, Venza, Isabella, Scimone, Concetta, Aragona, Pasquale, Sidoti, Antonina
Published in International journal of molecular medicine (01.04.2017)
Published in International journal of molecular medicine (01.04.2017)
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Journal Article
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance
Scimone, Concetta, Donato, Luigi, Katsarou, Zoe, Bostantjopoulou, Sevasti, D'Angelo, Rosalia, Sidoti, Antonina
Published in Frontiers in neurology (14.11.2018)
Published in Frontiers in neurology (14.11.2018)
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Journal Article
Investigating G-quadruplex structures in RPGR gene: Implications for understanding X-linked retinal degeneration
Donato, Luigi, Scimone, Concetta, Alibrandi, Simona, Mordà, Domenico, Anchesi, Ivan, Scalinci, Sergio Zaccaria, Rinaldi, Carmela, D'Angelo, Rosalia, Sidoti, Antonina
Published in Heliyon (30.04.2024)
Published in Heliyon (30.04.2024)
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Journal Article
Methylome analysis of endothelial cells suggests new insights on sporadic brain arteriovenous malformation
Scimone, Concetta, Donato, Luigi, Alibrandi, Simona, Conti, Alfredo, Bortolotti, Carlo, Germanò, Antonino, Alafaci, Concetta, Vinci, Sergio Lucio, D'Angelo, Rosalia, Sidoti, Antonina
Published in Heliyon (15.08.2024)
Published in Heliyon (15.08.2024)
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Journal Article
The genomic mosaic of mitochondrial dysfunction: Decoding nuclear and mitochondrial epigenetic contributions to maternally inherited diabetes and deafness pathogenesis
Donato, Luigi, Scimone, Concetta, Alibrandi, Simona, Vadalà, Maria, Castellucci, Massimo, Bonfiglio, Vincenza Maria Elena, Scalinci, Sergio Zaccaria, Abate, Giorgia, D'Angelo, Rosalia, Sidoti, Antonina
Published in Heliyon (30.07.2024)
Published in Heliyon (30.07.2024)
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Journal Article
New Omics-Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype?
Donato, Luigi, Scimone, Concetta, Alibrandi, Simona, Abdalla, Ebtesam Mohamed, Nabil, Karim Mahmoud, D'Angelo, Rosalia, Sidoti, Antonina
Published in International journal of molecular sciences (23.12.2020)
Published in International journal of molecular sciences (23.12.2020)
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Journal Article
Oxidative Stress and the Neurovascular Unit
Rinaldi, Carmela, Donato, Luigi, Alibrandi, Simona, Scimone, Concetta, D'Angelo, Rosalia, Sidoti, Antonina
Published in Life (Basel, Switzerland) (29.07.2021)
Published in Life (Basel, Switzerland) (29.07.2021)
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Journal Article
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?
Donato, Luigi, Scimone, Concetta, Rinaldi, Carmela, Aragona, Pasquale, Briuglia, Silvana, D'Ascola, Angela, D'Angelo, Rosalia, Sidoti, Antonina
Published in Investigative ophthalmology & visual science (01.02.2018)
Published in Investigative ophthalmology & visual science (01.02.2018)
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Journal Article
GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case–control study in a Sicilian population
Donato, Luigi, Scimone, Concetta, Nicocia, Giacomo, Denaro, Lucia, Robledo, Renato, Sidoti, Antonina, D’Angelo, Rosalia
Published in Molecular biology reports (01.10.2018)
Published in Molecular biology reports (01.10.2018)
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Journal Article
Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis
Scimone, Concetta, Donato, Luigi, Marino, Silvia, Alafaci, Concetta, D’Angelo, Rosalia, Sidoti, Antonina
Published in Neurological sciences (01.02.2019)
Published in Neurological sciences (01.02.2019)
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Journal Article
Retraction Note: Non-coding RNAome of RPE cells under oxidative stress suggests unknown regulative aspects of Retinitis pigmentosa etiopathogenesis
Donato, Luigi, Scimone, Concetta, Rinaldi, Carmela, D’Angelo, Rosalia, Sidoti, Antonina
Published in Scientific reports (25.09.2019)
Published in Scientific reports (25.09.2019)
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Journal Article