Showing 1 - 12 results of 12 for search 'Mirella Vinci', query time: 0.03s Refine Results
  1. 1
    Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report

    Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report by Francesco Calì, Maurizio Elia, Mirella Vinci, Luigi Vetri, Edvige Correnti, Emanuele Trapolino, Michele Roccella, Francesca Vanadia, Valentino Romano

    Published 2020-08-01
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  2. 2
    Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies

    Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies by Luigi Vetri, Francesco Calì, Salvatore Saccone, Mirella Vinci, Natalia Valeria Chiavetta, Marco Carotenuto, Michele Roccella, Carola Costanza, Maurizio Elia

    Published 2024-01-01
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  3. 3
    STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy

    STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy by Mirella Vinci, Carola Costanza, Rosanna Galati Rando, Simone Treccarichi, Salvatore Saccone, Marco Carotenuto, Michele Roccella, Francesco Calì, Maurizio Elia, Luigi Vetri

    Published 2023-11-01
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  4. 4
    Allelic Variations in the Human Genes <i>TMPRSS2</i> and <i>CCR5,</i> and the Resistance to Viral Infection by SARS-CoV-2

    Allelic Variations in the Human Genes <i>TMPRSS2</i> and <i>CCR5,</i> and the Resistance to Viral Infection by SARS-CoV-2 by Girolamo Aurelio Vitello, Concetta Federico, Francesca Bruno, Mirella Vinci, Antonino Musumeci, Alda Ragalmuto, Valentina Sturiale, Desiree Brancato, Francesco Calì, Salvatore Saccone

    Published 2022-08-01
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  5. 5
    <i>UNC5C</i>: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways

    <i>UNC5C</i>: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways by Simone Treccarichi, Pinella Failla, Mirella Vinci, Antonino Musumeci, Angelo Gloria, Anna Vasta, Giuseppe Calabrese, Carla Papa, Concetta Federico, Salvatore Saccone, Francesco Calì

    Published 2024-02-01
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  6. 6
    Prader–Willi Syndrome with Angelman Syndrome in the Offspring

    Prader–Willi Syndrome with Angelman Syndrome in the Offspring by Donatella Greco, Luigi Vetri, Letizia Ragusa, Mirella Vinci, Angelo Gloria, Paola Occhipinti, Angela Antonia Costanzo, Giuseppe Quatrosi, Michele Roccella, Serafino Buono, Corrado Romano

    Published 2021-05-01
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  7. 7
    Next Generation Sequencing and Electromyography Reveal the Involvement of the <i>P2RX6</i> Gene in Myopathy

    Next Generation Sequencing and Electromyography Reveal the Involvement of the <i>P2RX6</i> Gene in Myopathy by Mirella Vinci, Girolamo Aurelio Vitello, Donatella Greco, Simone Treccarichi, Alda Ragalmuto, Antonino Musumeci, Antonio Fallea, Concetta Federico, Francesco Calì, Salvatore Saccone, Maurizio Elia

    Published 2024-01-01
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  8. 8
    Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene

    Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene by Mirella Vinci, Petri Kursula, Donatella Greco, Maurizio Elia, Luigi Vetri, Carmelo Schepis, Valeria Chiavetta, Serena Donadio, Michele Roccella, Marco Carotenuto, Valentino Romano, Francesco Calì

    Published 2022-09-01
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  9. 9
    <i>PHF21A</i> Related Disorder: Description of a New Case

    <i>PHF21A</i> Related Disorder: Description of a New Case by Ambra Butera, Antonio Gennaro Nicotera, Gabriella Di Rosa, Sebastiano Antonino Musumeci, Girolamo Aurelio Vitello, Antonino Musumeci, Mirella Vinci, Angelo Gloria, Concetta Federico, Salvatore Saccone, Francesco Calì

    Published 2022-12-01
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  10. 10
    Identification of a Novel Missense Mutation of <i>POLR3A</i> Gene in a Cohort of Sicilian Patients with Leukodystrophy

    Identification of a Novel Missense Mutation of <i>POLR3A</i> Gene in a Cohort of Sicilian Patients with Leukodystrophy by Antonino Musumeci, Francesco Calì, Carmela Scuderi, Mirella Vinci, Girolamo Aurelio Vitello, Sebastiano Antonino Musumeci, Valeria Chiavetta, Concetta Federico, Greta Amore, Salvatore Saccone, Gabriella Di Rosa, Antonio Gennaro Nicotera

    Published 2022-09-01
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  11. 11
    Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs

    Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs by Antonio Gennaro Nicotera, Gabriella Di Rosa, Laura Turriziani, Maria Cristina Costanzo, Emanuela Stracuzzi, Girolamo Aurelio Vitello, Rosanna Galati Rando, Antonino Musumeci, Mirella Vinci, Sebastiano Antonino Musumeci, Francesco Calì

    Published 2021-09-01
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  12. 12
    Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families

    Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families by Francesco Calì, Francesco Domenico Di Blasi, Emanuela Avola, Mirella Vinci, Antonino Musumeci, Angelo Gloria, Donatella Greco, Daniela Rita Raciti, Alessandro Zagami, Biagio Rizzo, Santina Città, Concetta Federico, Luigi Vetri, Salvatore Saccone, Serafino Buono

    Published 2023-08-01
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