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Up to 30% off — ends 7 Aug

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Salvatore Saccone

Università degli Studi di Napoli Federico II

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Research Interests

Neuropsychology

Medical Science

Neurodevelopmental Disorders

Behavioral Genetics

Rare Disease

Genomic Instability

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Articles20

Collaborators10

Arturo Sala

Brunel University London

UNITED KINGDOM

Giuseppe Musumeci

University of Catania

Cristina Sisu

UNITED KINGDOM

Sabrina Tosi

Brunel University London

UNITED KINGDOM

Velia D'Agata

Professore Ordinario

University of Catania

Concetta Federico

University of Catania

Salvatore Giunta

University of Catania

Cristina Pina

Senior Lecturer (Associate Professor) in Biomedical Sciences

Brunel University London

UNITED KINGDOM

Joanna Bridger

Brunel University London

UNITED KINGDOM

Vincenzo Agostini

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Salvatore Saccone

Full professor of Genetics

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Research Interests

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Articles20

Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms

<i>PLEKHG1</i>: New Potential Candidate Gene for Periventricular White Matter Abnormalities

A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability

Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders

Robertsonian Translocation between Human Chromosomes 21 and 22, Inherited across Three Generations, without Any Phenotypic Effect

The Chromatin Organization Close to SNP rs12913832, Involved in Eye Color Variation, Is Evolutionary Conserved in Vertebrates

Moderate Physical Activity Increases the Expression of ADNP in Rat Brain

UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways

Alterations in Genome Organization in Lymphoma Cell Nuclei due to the Presence of the t(14;18) Translocation

Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy

Forensic DNA Phenotyping: Genes and Genetic Variants for Eye Color Prediction

Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families

Regulation of UV-B-Induced Inflammatory Mediators by Activity-Dependent Neuroprotective Protein (ADNP)-Derived Peptide (NAP) in Corneal Epithelium

Engineered model of t(7;12)(q36;p13) AML recapitulates patient-specific features and gene expression profiles

PHF21A Related Disorder: Description of a New Case

Hereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy

Allelic Variations in the Human Genes TMPRSS2 and CCR5, and the Resistance to Viral Infection by SARS-CoV-2

Activity-Dependent Neuroprotective Protein (ADNP)-Derived Peptide (NAP) Counteracts UV-B Radiation-Induced ROS Formation in Corneal Epithelium

Chromosomal Rearrangements and Altered Nuclear Organization: Recent Mechanistic Models in Cancer

Collaborators10

Arturo Sala

Giuseppe Musumeci

Cristina Sisu

Sabrina Tosi

Velia D'Agata

Concetta Federico

Salvatore Giunta

Cristina Pina

Joanna Bridger

Vincenzo Agostini

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