Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies
Vetri, Luigi, Calì, Francesco, Saccone, Salvatore, Vinci, Mirella, Chiavetta, Natalia Valeria, Carotenuto, Marco, Roccella, Michele, Costanza, Carola, Elia, Maurizio
Published in International journal of molecular sciences (01.01.2024)
Published in International journal of molecular sciences (01.01.2024)
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STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy
Vinci, Mirella, Costanza, Carola, Galati Rando, Rosanna, Treccarichi, Simone, Saccone, Salvatore, Carotenuto, Marco, Roccella, Michele, Calì, Francesco, Elia, Maurizio, Vetri, Luigi
Published in International journal of molecular sciences (01.11.2023)
Published in International journal of molecular sciences (01.11.2023)
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A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability
Vinci, Mirella, Treccarichi, Simone, Galati Rando, Rosanna, Musumeci, Antonino, Todaro, Valeria, Federico, Concetta, Saccone, Salvatore, Elia, Maurizio, Calì, Francesco
Published in Scientific reports (09.07.2024)
Published in Scientific reports (09.07.2024)
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PHF21A Related Disorder: Description of a New Case
Butera, Ambra, Nicotera, Antonio Gennaro, Di Rosa, Gabriella, Musumeci, Sebastiano Antonino, Vitello, Girolamo Aurelio, Musumeci, Antonino, Vinci, Mirella, Gloria, Angelo, Federico, Concetta, Saccone, Salvatore, Calì, Francesco
Published in International journal of molecular sciences (17.12.2022)
Published in International journal of molecular sciences (17.12.2022)
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Allelic Variations in the Human Genes TMPRSS2 and CCR5, and the Resistance to Viral Infection by SARS-CoV-2
Vitello, Girolamo Aurelio, Federico, Concetta, Bruno, Francesca, Vinci, Mirella, Musumeci, Antonino, Ragalmuto, Alda, Sturiale, Valentina, Brancato, Desiree, Calì, Francesco, Saccone, Salvatore
Published in International journal of molecular sciences (15.08.2022)
Published in International journal of molecular sciences (15.08.2022)
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Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders
Treccarichi, Simone, Calì, Francesco, Vinci, Mirella, Ragalmuto, Alda, Musumeci, Antonino, Federico, Concetta, Costanza, Carola, Bottitta, Maria, Greco, Donatella, Saccone, Salvatore, Elia, Maurizio
Published in Current Issues in Molecular Biology (01.07.2024)
Published in Current Issues in Molecular Biology (01.07.2024)
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Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy
Vinci, Mirella, Vitello, Girolamo Aurelio, Greco, Donatella, Treccarichi, Simone, Ragalmuto, Alda, Musumeci, Antonino, Fallea, Antonio, Federico, Concetta, Calì, Francesco, Saccone, Salvatore, Elia, Maurizio
Published in Current issues in molecular biology (01.02.2024)
Published in Current issues in molecular biology (01.02.2024)
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KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review
Amore, Greta, Butera, Ambra, Spoto, Giulia, Valentini, Giulia, Saia, Maria Concetta, Salpietro, Vincenzo, Calì, Francesco, Di Rosa, Gabriella, Nicotera, Antonio Gennaro
Published in Frontiers in neurology (25.03.2022)
Published in Frontiers in neurology (25.03.2022)
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A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study
Ferri, Raffaele, Mattina, Teresa, Cantone, Mariagiovanna, Spada, Rosario Sebastiano, Tripodi, Mariangela, Cosentino, Filomena Irene Ilaria, Vinci, Mirella, Calì, Francesco, Lanza, Giuseppe, Bella, Rita
Published in Journal of neural transplantation & plasticity (2020)
Published in Journal of neural transplantation & plasticity (2020)
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Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report
Calì, Francesco, Elia, Maurizio, Vinci, Mirella, Vetri, Luigi, Correnti, Edvige, Trapolino, Emanuele, Roccella, Michele, Vanadia, Francesca, Romano, Valentino
Published in Medicina (Kaunas, Lithuania) (01.08.2020)
Published in Medicina (Kaunas, Lithuania) (01.08.2020)
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Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs
Nicotera, Antonio Gennaro, Di Rosa, Gabriella, Turriziani, Laura, Costanzo, Maria Cristina, Stracuzzi, Emanuela, Vitello, Girolamo Aurelio, Rando, Rosanna Galati, Musumeci, Antonino, Vinci, Mirella, Musumeci, Sebastiano Antonino, Calì, Francesco
Published in Brain sciences (29.09.2021)
Published in Brain sciences (29.09.2021)
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Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics
Calì, Francesco, Ruggeri, Giuseppa, Vinci, Mirella, Meli, Concetta, Carducci, Carla, Leuzzi, Vincenzo, Pozzessere, Simone, Schinocca, Pietro, Ragalmuto, Alda, Chiavetta, Valeria, Miccichè, Salvatore, Romano, Valentino
Published in Experimental & molecular medicine (28.02.2010)
Published in Experimental & molecular medicine (28.02.2010)
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Late-onset oro-facial dyskinesia in Spinocerebellar Ataxia type 2: a case report
Giardina, Floriana, Lanza, Giuseppe, Calì, Francesco, Ferri, Raffaele
Published in BMC neurology (27.04.2020)
Published in BMC neurology (27.04.2020)
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PPP2R5E: New gene potentially involved in specific learning disorders and myopathy
Musumeci, Antonino, Vinci, Mirella, Verbinnen, Iris, Treccarichi, Simone, Nigliato, Eleonora, Chiavetta, Valeria, Greco, Donatella, Vitello, Girolamo Aurelio, Federico, Concetta, Janssens, Veerle, Saccone, Salvatore, Calì, Francesco
Published in Gene (15.01.2025)
Published in Gene (15.01.2025)
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Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation
Marrale, Maurizio, Albanese, Nadia Ninfa, Calì, Francesco, Romano, Valentino
Published in PloS one (25.03.2014)
Published in PloS one (25.03.2014)
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Archaeogenetics and Landscape Dynamics in Sicily during the Holocene: A Review
Romano, Valentino, Catalano, Giulio, Bazan, Giuseppe, Calì, Francesco, Sineo, Luca
Published in Sustainability (01.09.2021)
Published in Sustainability (01.09.2021)
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Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant
Norata, Davide, Alonge, Paolo, Grillo, Lucia, Calì, Francesco, Sturnio, Maurizio, Lupica, Antonino, Costa, Vanessa, Brighina, Filippo, Di Stefano, Vincenzo
Published in Neurological sciences (01.03.2024)
Published in Neurological sciences (01.03.2024)
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Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder
Nicotera, Antonio Gennaro, Amore, Greta, Saia, Maria Concetta, Vinci, Mirella, Musumeci, Antonino, Chiavetta, Valeria, Federico, Concetta, Spoto, Giulia, Saccone, Salvatore, Di Rosa, Gabriella, Calì, Francesco
Published in Neuromolecular medicine (01.12.2023)
Published in Neuromolecular medicine (01.12.2023)
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