Application of Precision Medicine in Neurodegenerative Diseases von Strafella, Claudia, Caputo, Valerio, Galota, Maria R, Zampatti, Stefania, Marella, Gianluca, Mauriello, Silvestro, Cascella, Raffaella, Giardina, Emiliano

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Review of nutrient actions on age-related macular degeneration von Zampatti, Stefania, Ricci, Federico, Cusumano, Andrea, Marsella, Luigi Tonino, Novelli, Giuseppe, Giardina, Emiliano

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C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies von Zampatti, Stefania, Peconi, Cristina, Campopiano, Rosa, Gambardella, Stefano, Caltagirone, Carlo, Giardina, Emiliano

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The Revolution of Genetic Diagnosis: An Example from Rare Disorders von Zampatti, Stefania

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The Genetics and the Genomics of Primary Congenital Glaucoma von Giardina, Emiliano, Ricci, Federico, Novelli, Giuseppe, Germani, Chiara, Strafella, Claudia, Cascella, Raffaella, Zampatti, Stefania

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Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations von Ferese, Rosangela, Scala, Simona, Suppa, Antonio, Campopiano, Rosa, Asci, Francesco, Zampogna, Alessandro, Chiaravalloti, Maria Antonietta, Griguoli, Annamaria, Storto, Marianna, Pardo, Alba Di, Giardina, Emiliano, Zampatti, Stefania, Fornai, Francesco, Novelli, Giuseppe, Fanelli, Mirco, Zecca, Chiara, Logroscino, Giancarlo, Centonze, Diego, Gambardella, Stefano

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A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset von 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

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Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report von 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

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Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants von 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

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Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A von 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

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Haplotypes in IL-8 Gene Are Associated to Age-Related Macular Degeneration: A Case-Control Study von 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

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Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease von Ferese, Rosangela, Scala, Simona, Biagioni, Francesca, Giardina, Emiliano, Zampatti, Stefania, Modugno, Nicola, Colonnese, Claudio, Storto, Marianna, Fornai, Francesco, Novelli, Giuseppe, Ruggieri, Stefano, Gambardella, Stefano

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Bioinformatic tools are essential to integrating pharmacogenomics into clinical practice: lessons from neuropsychiatric disorders von Zampatti, Stefania, Giardina, Emiliano

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Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD von Cascella, Raffaella, Strafella, Claudia, Caputo, Valerio, Galota, Rosaria Maria, Errichiello, Valeria, Scutifero, Marianna, Petillo, Roberta, Marella, Gian Luca, Arcangeli, Mauro, Colantoni, Luca, Zampatti, Stefania, Ricci, Enzo, Deidda, Giancarlo, Politano, Luisa, Giardina, Emiliano

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Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings von 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

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A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS) von Ferese, Rosangela, Zampatti, Stefania, Griguoli, Anna Maria Pia, Fornai, Francesco, Giardina, Emiliano, Barrano, Giuseppe, Albano, Veronica, Campopiano, Rosa, Scala, Simona, Novelli, Giuseppe, Gambardella, Stefano

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The Pharmacogenomic HLA Biomarker Associated to Adverse Abacavir Reactions: Comparative Analysis of Different Genotyping Methods von Stocchi, Laura, Cascella, Raffaella, Zampatti, Stefania, Pirazzoli, Antonella, Novelli, Giuseppe, Giardina, Emiliano

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The Future of Pharmacogenomics Requires New Discoveries and Innovative Education von Giardina, Emiliano, Zampatti, Stefania

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Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease von Fornai, Francesco, Centonze, Diego, Ruggieri, Stefano, Modugno, Nicola, Zampatti, Stefania, Giardina, Emiliano, Biagioni, Francesca, Carboni, Stefania, Scala, Simona, Ferese, Rosangela, Gambardella, Stefano, Fabbiano, Francesco

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Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era von Zampatti, Stefania, Colantoni, Luca, Strafella, Claudia, Galota, Rosaria Maria, Caputo, Valerio, Campoli, Giulia, Pagliaroli, Giulia, Carboni, Stefania, Mela, Julia, Peconi, Cristina, Gambardella, Stefano, Cascella, Raffaella, Giardina, Emiliano

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