New Insights Into TRMT10A Syndrome: Case Report and Literature Review von Ceraolo, Graziana, Spoto, Giulia, Butera, Ambra, Spanò, Maria, Vinci, Mirella, Vitello, Girolamo Aurelio, Musumeci, Antonino, Calì, Francesco, Nicotera, Antonio Gennaro, Di Rosa, Gabriella

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PHF21A Related Disorder: Description of a New Case von 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

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

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

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Interdisciplinary Multidimensional Assessment of Transthyretin Amyloidosis before and after Tafamidis von Pennisi, Manuela, Lanza, Giuseppe, Vitello, Girolamo Aurelio, Faro, Denise Cristiana, Fisicaro, Francesco, Cappellani, Francesco, Bella, Rita, Monte, Ines Paola

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

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Novel c.C2254T (p.Q752) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis von Vinci, Mirella, Fichera, Marco, Musumeci, Sebastiano Antonino, Cali, Francesco, Vitello, Girolamo Aurelio

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

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6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies von Di Benedetto, Daniela, Di Vita, Giuseppa, Romano, Corrado, Giudice, Mariangela Lo, Vitello, Girolamo Aurelio, Zingale, Marinella, Grillo, Lucia, Castiglia, Lucia, Musumeci, Sebastiano Antonino, Fichera, Marco

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Identification of novel mutations in L1CAM gene by a DHPLC-based assay von Vinci, Mirella, Falco, Michele, Castiglia, Lucia, Grillo, Lucia, Spalletta, Angela, Sturnio, Maurizio, Galesi, Ornella, Salemi, Michele, Gloria, Angelo, Amata, Silvestra, Piccione, Maria, Antona, Vincenzo, Vitello, Girolamo Aurelio, Fichera, Marco

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PPP2R5E: New gene potentially involved in specific learning disorders and myopathy von Musumeci, Antonino, Vinci, Mirella, Verbinnen, Iris, Treccarichi, Simone, Nigliato, Eleonora, Chiavetta, Valeria, Greco, Donatella, Vitello, Girolamo Aurelio, Federico, Concetta, Janssens, Veerle, Saccone, Salvatore, Cali, Francesco

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PPP2R5E: New gene potentially involved in specific learning disorders and myopathy von 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

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Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability von Scuderi, Carmela, Santa Paola, Sandro, Lo Giudice, Mariangela, Di Blasi, Francesco Domenico, Giusto, Stefania, Di Vita, Giuseppa, Pettinato, Rosa, Vitello, Girolamo Aurelio, Romano, Corrado, Buono, Serafino, Salpietro, Vincenzo, Houlden, Henry, Borgione, Eugenia

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PLEKHG1 : New Potential Candidate Gene for Periventricular White Matter Abnormalities von Calì, Francesco, Vinci, Mirella, Treccarichi, Simone, Papa, Carla, Gloria, Angelo, Musumeci, Antonino, Federico, Concetta, Vitello, Girolamo Aurelio, Nicotera, Antonio Gennaro, Di Rosa, Gabriella, Vetri, Luigi, Saccone, Salvatore, Elia, Maurizio

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Impact of daytime routine modifications on people with severe intellectual disability amid COVID‐19 pandemic von Vetri, Luigi, Elia, Maurizio, Vitello, Girolamo Aurelio, Greco, Donatella, Gagliano, Catalda, Costanzo, Maria Cristina, Romeo, Giusi, Musumeci, Sebastiano Antonino

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Novel c.C2254T gene in a patient with hereditary spastic paraparesis von Vinci, Mirella, Fichera, Marco, Musumeci, Sebastiano Antonino, Cali, Francesco, Vitello, Girolamo Aurelio

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Identification of a Novel Missense Mutation of IPOLR3A/I Gene in a Cohort of Sicilian Patients with Leukodystrophy von Musumeci, Antonino, Calì, Francesco, Scuderi, Carmela, Vinci, Mirella, Vitello, Girolamo Aurelio, Musumeci, Sebastiano Antonino, Chiavetta, Valeria, Federico, Concetta, Amore, Greta, Saccone, Salvatore, Di Rosa, Gabriella, Nicotera, Antonio Gennaro

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The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review von Scuderi, Carmela, Borgione, Eugenia, Castello, Filippa, Lo Giudice, Mariangela, Santa Paola, Sandro, Giambirtone, Mariaconcetta, Di Blasi, Francesco Domenico, Elia, Maurizio, Amato, Carmelo, Città, Santina, Gagliano, Catalda, Barbarino, Giuliano, Vitello, Girolamo Aurelio, Musumeci, Sebastiano Antonino

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Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes von Snijders Blok, Charlotte, Corsten‐Janssen, Nicole, FitzPatrick, David R., Romano, Corrado, Fichera, Marco, Vitello, Girolamo Aurelio, Willemsen, Marjolein H., Schoots, Jeroen, Pfundt, Rolph, van Ravenswaaij‐Arts, Conny M.A., Hoefsloot, Lies, Kleefstra, Tjitske

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Carrier screening for spinal muscular atrophy in Italian population von CALÌ, FRANCESCO, RUGGERI, GIUSEPPA, CHIAVETTA, VALERIA, SCUDERI, CARMELA, BIANCA, SEBASTIANO, BARONE, CHIARA, RAGALMUTO, ALDA, SCHINOCCA, PIETRO, VITELLO, GIROLAMO AURELIO, ROMANO, VALENTINO, MUSUMECI, SEBASTIANO

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