Review of nutrient actions on age-related macular degeneration
Zampatti, Stefania, Ricci, Federico, Cusumano, Andrea, Marsella, Luigi Tonino, Novelli, Giuseppe, Giardina, Emiliano
Published in Nutrition research (New York, N.Y.) (01.02.2014)
Published in Nutrition research (New York, N.Y.) (01.02.2014)
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Journal Article
Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management
Zampatti, Stefania, Peconi, Cristina, Megalizzi, Domenica, Calvino, Giulia, Trastulli, Giulia, Cascella, Raffaella, Strafella, Claudia, Caltagirone, Carlo, Giardina, Emiliano
Published in Genes (01.04.2024)
Published in Genes (01.04.2024)
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Journal Article
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy
Zampatti, Stefania, Peconi, Cristina, Calvino, Giulia, Ferese, Rosangela, Gambardella, Stefano, Cascella, Raffaella, Sebastiani, Jacopo, Falsini, Benedetto, Cusumano, Andrea, Giardina, Emiliano
Published in Genes (01.08.2023)
Published in Genes (01.08.2023)
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Journal Article
Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report
Graziani, Ludovico, Zampatti, Stefania, Carriero, Miriam Lucia, Minotti, Chiara, Peconi, Cristina, Bengala, Mario, Giardina, Emiliano, Novelli, Giuseppe
Published in Genes (01.08.2023)
Published in Genes (01.08.2023)
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Journal Article
The Genetics and the Genomics of Primary Congenital Glaucoma
Giardina, Emiliano, Ricci, Federico, Novelli, Giuseppe, Germani, Chiara, Strafella, Claudia, Cascella, Raffaella, Zampatti, Stefania
Published in BioMed research international (01.01.2015)
Published in BioMed research international (01.01.2015)
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Journal Article
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset
Campopiano, Rosa, Ferese, Rosangela, Zampatti, Stefania, Giardina, Emiliano, Biagioni, Francesca, Colonnese, Claudio, Centonze, Diego, Storto, Marianna, Buttari, Fabio, Fraviga, Edoardo, Broccoli, Vania, Fanelli, Mirco, Fornai, Francesco, Gambardella, Stefano
Published in BMC neurology (29.06.2020)
Published in BMC neurology (29.06.2020)
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Journal Article
Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A
Mastrapasqua, Mariangela, Rossi, Roberta, De Cosmo, Lucrezia, Resta, Annalisa, Errede, Mariella, Bizzoca, Antonella, Zampatti, Stefania, Resta, Nicoletta, Giardina, Emiliano, Ruggieri, Maddalena, Virgintino, Daniela, Annese, Tiziana, Laforgia, Nicola, Girolamo, Francesco
Published in European journal of translational myology (28.07.2023)
Published in European journal of translational myology (28.07.2023)
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Journal Article
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants
Ferese, Rosangela, Campopiano, Rosa, Scala, Simona, D’Alessio, Carmelo, Storto, Marianna, Buttari, Fabio, Centonze, Diego, Logroscino, Giancarlo, Zecca, Chiara, Zampatti, Stefania, Fornai, Francesco, Cianci, Vittoria, Manfroi, Elisabetta, Giardina, Emiliano, Magnani, Mauro, Suppa, Antonio, Novelli, Giuseppe, Gambardella, Stefano
Published in Frontiers in genetics (19.07.2021)
Published in Frontiers in genetics (19.07.2021)
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Journal Article
Haplotypes in IL-8 Gene Are Associated to Age-Related Macular Degeneration: A Case-Control Study
Ricci, Federico, Staurenghi, Giovanni, Lepre, Tiziana, Missiroli, Filippo, Zampatti, Stefania, Cascella, Raffaella, Borgiani, Paola, Marsella, Luigi Tonino, Eandi, Chiara Maria, Cusumano, Andrea, Novelli, Giuseppe, Giardina, Emiliano
Published in PloS one (19.06.2013)
Published in PloS one (19.06.2013)
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Journal Article
Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease
Ferese, Rosangela, Scala, Simona, Biagioni, Francesca, Giardina, Emiliano, Zampatti, Stefania, Modugno, Nicola, Colonnese, Claudio, Storto, Marianna, Fornai, Francesco, Novelli, Giuseppe, Ruggieri, Stefano, Gambardella, Stefano
Published in Frontiers in neurology (10.07.2018)
Published in Frontiers in neurology (10.07.2018)
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Journal Article
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report
Strafella, Claudia, Campoli, Giulia, Galota, Rosaria Maria, Caputo, Valerio, Pagliaroli, Giulia, Carboni, Stefania, Zampatti, Stefania, Peconi, Cristina, Mela, Julia, Sancricca, Cristina, Primiano, Guido, Minozzi, Giulietta, Servidei, Serenella, Cascella, Raffaella, Giardina, Emiliano
Published in Frontiers in neurology (13.06.2019)
Published in Frontiers in neurology (13.06.2019)
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Journal Article
A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers
Campopiano, Rosa, Femiano, Cinzia, Chiaravalloti, Maria Antonietta, Ferese, Rosangela, Centonze, Diego, Buttari, Fabio, Zampatti, Stefania, Fanelli, Mirco, Amatori, Stefano, D’Alessio, Carmelo, Giardina, Emiliano, Fornai, Francesco, Biagioni, Francesca, Storto, Marianna, Gambardella, Stefano
Published in Genes (19.05.2021)
Published in Genes (19.05.2021)
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Journal Article
NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene
Strafella, Claudia, Caputo, Valerio, Pagliaroli, Giulia, Iozzo, Nicola, Campoli, Giulia, Carboni, Stefania, Peconi, Cristina, Galota, Rosaria Maria, Zampatti, Stefania, Minozzi, Giulietta, Novelli, Giuseppe, Giardina, Emiliano, Cascella, Raffaella
Published in Genes (12.10.2019)
Published in Genes (12.10.2019)
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Journal Article
Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders
Zampatti, Stefania, Ragazzo, Michele, Peconi, Cristina, Luciano, Serena, Gambardella, Stefano, Caputo, Valerio, Strafella, Claudia, Cascella, Raffaella, Caltagirone, Carlo, Giardina, Emiliano
Published in Journal of personalized medicine (26.05.2021)
Published in Journal of personalized medicine (26.05.2021)
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Journal Article
Genetic Variants Allegedly Linked to Antisocial Behaviour Are Equally Distributed Across Different Populations
Zampatti, Stefania, Ragazzo, Michele, Fabrizio, Carlo, Termine, Andrea, Campoli, Giulia, Caputo, Valerio, Strafella, Claudia, Cascella, Raffaella, Caltagirone, Carlo, Giardina, Emiliano
Published in Journal of personalized medicine (16.03.2021)
Published in Journal of personalized medicine (16.03.2021)
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Journal Article
Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings
Novelli, Giuseppe, Romoli, Edoardo, Ruggieri, Stefano, Gambardella, Stefano, Postorivo, Diana, Nardone, Annamaria, Giardina, Emiliano, Zampatti, Stefania, Santilli, Marco, Campopiano, Rosa, Modugno, Nicola, Ferese, Rosangela, Fornai, Francesco
Published in Parkinson's disease (01.01.2015)
Published in Parkinson's disease (01.01.2015)
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Journal Article
WARE: Wet AMD Risk-Evaluation Tool as a Clinical Decision-Support System Integrating Genetic and Non-Genetic Factors
Fabrizio, Carlo, Termine, Andrea, Caputo, Valerio, Megalizzi, Domenica, Zampatti, Stefania, Falsini, Benedetto, Cusumano, Andrea, Eandi, Chiara Maria, Ricci, Federico, Giardina, Emiliano, Strafella, Claudia, Cascella, Raffaella
Published in Journal of personalized medicine (24.06.2022)
Published in Journal of personalized medicine (24.06.2022)
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Journal Article