Publications by authors named "Simone Treccarichi"

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Unravelling the role of Neurotrimin (NTM), a member of the IgLON family, in mild intellectual disability and anxiety-like behaviors.
Mirella Vinci, Simone Treccarichi, Pinella Failla, Antonino Musumeci, Angelo Gloria

Gene· January 2026

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NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications.
Desiree Brancato, Simone Treccarichi, Francesca Bruno, Elvira Coniglio, Mirella Vinci

Int J Mol Sci· October 2025

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Dissecting the Genetic Contribution of Tooth Agenesis.
Antonio Fallea, Mirella Vinci, Simona L'Episcopo, Massimiliano Bartolone, Antonino Musumeci, Simone Treccarichi

Int J Mol Sci· October 2025

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Investigating the role of a novel hemizygous FAAH2 variant in neurological and metabolic disorders.
Mirella Vinci, Donatella Greco, Simone Treccarichi, Antonino Musumeci, Angelo Gloria

Gene· September 2025

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as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift Variant.
Francesco Calì, Miriam Virgillito, Simone Treccarichi, Antonino Musumeci, Pinella Failla

Int J Mol Sci· August 2025

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MAN2A2-related glycosylation defects in autism and cognitive delay.
Simone Treccarichi, Mirella Vinci, Lara Cirnigliaro, Angela Messina, Angelo Palmigiano

Sci Rep· July 2025

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Strengthening the Role of as a Potential Gene Associated with Neurodevelopmental Disorders.
Mirella Vinci, Antonino Musumeci, Carla Papa, Alda Ragalmuto, Salvatore Saccone, Simone Treccarichi

Int J Mol Sci· July 2025

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Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants.
Vittoria Greco, Donatella Greco, Simone Treccarichi, Maria Bottitta, Pinella Failla

Medicina (Kaunas)· July 2025

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Potential Association of the Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive-Compulsive Personality Traits.
Antonino Musumeci, Mirella Vinci, Simone Treccarichi, Donatella Greco, Biagio Rizzo

Int J Mol Sci· May 2025

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Investigating the Role of the Zinc Finger Protein ZC2HC1C on Autism Spectrum Disorder Susceptibility.
Simone Treccarichi, Mirella Vinci, Antonino Musumeci, Rosanna Galati Rando, Carla Papa

Medicina (Kaunas)· March 2025

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Potential Role of Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis.
Antonino Musumeci, Mirella Vinci, Simone Treccarichi, Alda Ragalmuto, Giuseppe Bruno

Genes (Basel)· February 2025

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PPP2R5E: New gene potentially involved in specific learning disorders and myopathy.
Antonino Musumeci, Mirella Vinci, Iris Verbinnen, Simone Treccarichi, Eleonora Nigliato

Gene· January 2025

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Exploring the Role of , a New Potential Gene Involved in Borderline Intellectual Functioning, Psychological and Metabolic Disorders.
Mirella Vinci, Donatella Greco, Maria Grazia Figura, Simone Treccarichi, Antonino Musumeci

Genes (Basel)· December 2024

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Bioinformatic Evaluation of Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms.
Mirella Vinci, Donatella Greco, Simone Treccarichi, Valeria Chiavetta, Maria Grazia Figura

Genes (Basel)· August 2024

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: New Potential Candidate Gene for Periventricular White Matter Abnormalities.
Francesco Calì, Mirella Vinci, Simone Treccarichi, Carla Papa, Angelo Gloria

Genes (Basel)· August 2024

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A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability.
Mirella Vinci, Simone Treccarichi, Rosanna Galati Rando, Antonino Musumeci, Valeria Todaro

Sci Rep· July 2024

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Implications of a Variant in the Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders.
Simone Treccarichi, Francesco Calì, Mirella Vinci, Alda Ragalmuto, Antonino Musumeci

Curr Issues Mol Biol· June 2024

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: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways.
Simone Treccarichi, Pinella Failla, Mirella Vinci, Antonino Musumeci, Angelo Gloria

Genes (Basel)· February 2024

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Next Generation Sequencing and Electromyography Reveal the Involvement of the Gene in Myopathy.
Mirella Vinci, Girolamo Aurelio Vitello, Donatella Greco, Simone Treccarichi, Alda Ragalmuto

Curr Issues Mol Biol· January 2024

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STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy.
Mirella Vinci, Carola Costanza, Rosanna Galati Rando, Simone Treccarichi, Salvatore Saccone

Int J Mol Sci· November 2023

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Molecular Markers for Detecting Inflorescence Size of L. Crops and Complex Species (n = 9) Useful for Breeding of Broccoli ( var. ) and Cauliflower ( var. ).
Simone Treccarichi, Hajer Ben Ammar, Marwen Amari, Riccardo Cali, Alessandro Tribulato

Plants (Basel)· January 2023

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Phytochemical Characterization and In Vitro Antioxidant Properties of Four Wild Species from Italy.
Valentina Picchi, Roberto Lo Scalzo, Aldo Tava, Filippo Doria, Sergio Argento, Simone Treccarichi

Molecules· July 2020

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