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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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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Killer-specific secretory (Ksp37) gene expression in subjects with Down’s syndrome
Salemi, Michele, Barone, Concetta, Morale, Maria Concetta, Caniglia, Salvatore, Romano, Carmelo, Salluzzo, Maria Grazia, Rando, Rosanna G. Galati, Ragalmuto, Alda, Bosco, Paolo, Romano, Corrado
Published in Neurological sciences (01.05.2016)
Published in Neurological sciences (01.05.2016)
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A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers
Salemi, Michele, Barone, Concetta, Salluzzo, Maria Grazia, Giambirtone, Mariaconcetta, Scillato, Francesco, Galati Rando, Rosanna, Romano, Carmelo, Morale, Maria Concetta, Ridolfo, Federico, Romano, Corrado
Published in The journal of maternal-fetal & neonatal medicine (01.11.2017)
Published in The journal of maternal-fetal & neonatal medicine (01.11.2017)
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Poly (ADP-ribose) polymerase-1 (PARP-1) − 410C/T polymorphism in Sicilian patients with Parkinson's disease
Salluzzo, Maria Grazia, Cosentino, Filomena I, Romano, Carmelo, Scillato, Francesco, Morale, Maria Concetta, Rando, Rosanna Galati, Elia, Federica, Spada, Rosario S, Bosco, Paolo, Salemi, Michele
Published in Journal of the neurological sciences (15.04.2016)
Published in Journal of the neurological sciences (15.04.2016)
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