Search Results - "D'ARRIGO, Stefano"

Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus by Hafdaoui, Sara, Ciaccio, Claudia, Castellotti, Barbara, Sciacca, Francesca L, Pantaleoni, Chiara, D'Arrigo, Stefano

“…Infantile idiopathic nystagmus (IIN) is an oculomotor disorder characterized by involuntary bilateral, periodic ocular oscillations, predominantly on the…”
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ZC4H2 deletions can cause severe phenotype in female carriers by Zanzottera, Cristina, Milani, Donatella, Alfei, Enrico, Rizzo, Ambra, D'Arrigo, Stefano, Esposito, Susanna, Pantaleoni, Chiara

“…ZC4H2 is involved in human brain development, and, if mutated, can be responsible for a rare X‐linked disorder, originally presented in literature as…”
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Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region by Nicita, Francesco, Garone, Giacomo, Spalice, Alberto, Savasta, Salvatore, Striano, Pasquale, Pantaleoni, Chiara, Spartà, Maria Valentina, Kluger, Gerhard, Capovilla, Giuseppe, Pruna, Dario, Freri, Elena, D'Arrigo, Stefano, Verrotti, Alberto

“…Seizures are rarely reported in Williams‐Beuren syndrome (WBS)—a contiguous‐gene‐deletion disorder caused by a 7q11.23 heterozygous deletion of 1.5–1.8 Mb—and…”
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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome by Roosing, Susanne, Hofree, Matan, Kim, Sehyun, Scott, Eric, Copeland, Brett, Romani, Marta, Silhavy, Jennifer L, Rosti, Rasim O, Schroth, Jana, Mazza, Tommaso, Miccinilli, Elide, Zaki, Maha S, Swoboda, Kathryn J, Milisa-Drautz, Joanne, Dobyns, William B, Mikati, Mohamed A, İncecik, Faruk, Azam, Matloob, Borgatti, Renato, Romaniello, Romina, Boustany, Rose-Mary, Clericuzio, Carol L, D'Arrigo, Stefano, Strømme, Petter, Boltshauser, Eugen, Stanzial, Franco, Mirabelli-Badenier, Marisol, Moroni, Isabella, Bertini, Enrico, Emma, Francesco, Steinlin, Maja, Hildebrandt, Friedhelm, Johnson, Colin A, Freilinger, Michael, Vaux, Keith K, Gabriel, Stacey B, Aza-Blanc, Pedro, Heynen-Genel, Susanne, Ideker, Trey, Dynlacht, Brian D, Lee, Ji Eun, Valente, Enza Maria, Kim, Joon, Gleeson, Joseph G

“…Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis…”
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Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI by Poretti, Andrea, Vitiello, Giuseppina, Hennekam, Raoul C M, Arrigoni, Filippo, Bertini, Enrico, Borgatti, Renato, Brancati, Francesco, D'Arrigo, Stefano, Faravelli, Francesca, Giordano, Lucio, Huisman, Thierry A G M, Iannicelli, Miriam, Kluger, Gerhard, Kyllerman, Marten, Landgren, Magnus, Lees, Melissa M, Pinelli, Lorenzo, Romaniello, Romina, Scheer, Ianina, Schwarz, Christoph E, Spiegel, Ronen, Tibussek, Daniel, Valente, Enza Maria, Boltshauser, Eugen

“…Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report…”
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The syndrome of perisylvian polymicrogyria with congenital arthrogryposis by Poduri, Annapurna, Chitsazzadeh, Vida, D’Arrigo, Stefano, Fedrizzi, Ermellina, Pantaleoni, Chiara, Riva, Daria, Busse, Claudia, Küster, Helmut, Duplessis, Adre, Gaitanis, John, Sahin, Mustafa, Garganta, Cheryl, Topcu, Meral, Dies, Kira A, Barry, Brenda J, Partlow, Jennifer, Barkovich, A. James, Walsh, Christopher A, Chang, Bernard S

“…Abstract Background: Bilateral perisylvian polymicrogyria (BPP) is a well-recognized malformation of cortical development commonly associated with epilepsy,…”
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Consensus Paper: The Cerebellum's Role in Movement and Cognition by Koziol, Leonard F., Budding, Deborah, Andreasen, Nancy, D’Arrigo, Stefano, Bulgheroni, Sara, Imamizu, Hiroshi, Ito, Masao, Manto, Mario, Marvel, Cherie, Parker, Krystal, Pezzulo, Giovanni, Ramnani, Narender, Riva, Daria, Schmahmann, Jeremy, Vandervert, Larry, Yamazaki, Tadashi

“…While the cerebellum's role in motor function is well recognized, the nature of its concurrent role in cognitive function remains considerably less clear. The…”
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Artificial Intelligence Applications for Thoracic Surgeons: "The Phenomenal Cosmic Powers of the Magic Lamp" by Cusumano, Giacomo, D'Arrigo, Stefano, Terminella, Alberto, Lococo, Filippo

“…In the digital age, artificial intelligence (AI) is emerging as a transformative force in various sectors, including medicine. This article explores the…”
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Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype by Nuovo, Sara, Micalizzi, Alessia, D'Arrigo, Stefano, Ginevrino, Monia, Biagini, Tommaso, Mazza, Tommaso, Valente, Enza Maria

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Contracting skeletal kinematics for human-related video anomaly detection by Flaborea, Alessandro, D’Amely di Melendugno, Guido Maria, D’Arrigo, Stefano, Sterpa, Marco Aurelio, Sampieri, Alessio, Galasso, Fabio

“…Detecting the anomaly of human behavior is paramount to timely recognizing endangering situations, such as street fights or elderly falls. However, anomaly…”
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CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder by Annunziata, Silvia, Bulgheroni, Sara, D’Arrigo, Stefano, Esposito, Silvia, Taddei, Matilde, Saletti, Veronica, Alfei, Enrico, Sciacca, Francesca Luisa, Rizzo, Ambra, Pantaleoni, Chiara, Riva, Daria

“…Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with a strong genetic basis. We accurately assessed 209 ASD subjects,…”
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Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases by Ciaccio, Claudia, Taddei, Matilde, Pantaleoni, Chiara, Grisoli, Marina, Di Bella, Daniela, Magri, Stefania, Taroni, Franco, D’Arrigo, Stefano

“…Background Gillespie syndrome is a rare disorder caused by pathogenic variants in ITPR1 gene and characterized by the typical association of cerebellar ataxia,…”
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Intranasal dexmedetomidine sedation for EEG in children with autism spectrum disorder by De Laurentiis, Arianna, Pastori, Chiara, Pinto, Carmela, D'Arrigo, Stefano, Estienne, Margherita, Bulgheroni, Sara, Battaglia, Giulia, Gemma, Marco

“…The aim of the study was to assess the efficacy of In-Dex sedation in comparison to oral melatonin and hydroxyzine in individuals with Autism Spectrum Disorder…”
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Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present by Ciaccio, Claudia, Pantaleoni, Chiara, Bulgheroni, Sara, Sciacca, Francesca, D’Arrigo, Stefano

“…Chromosomal microarray analysis is commonly used as screening test for children with neurodevelopmental issues, also in case of complex neurological…”
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Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation by Romaniello, Romina, Arrigoni, Filippo, Panzeri, Elena, Poretti, Andrea, Micalizzi, Alessia, Citterio, Andrea, Bedeschi, Maria Francesca, Berardinelli, Angela, Cusmai, Raffaella, D’Arrigo, Stefano, Ferraris, Alessandro, Hackenberg, Annette, Kuechler, Alma, Mancardi, Margherita, Nuovo, Sara, Oehl-Jaschkowitz, Barbara, Rossi, Andrea, Signorini, Sabrina, Tüttelmann, Frank, Wahl, Dagmar, Hehr, Ute, Boltshauser, Eugen, Bassi, Maria Teresa, Valente, Enza Maria, Borgatti, Renato

“…Objective To determine the neuroimaging pattern of cerebellar dysplasia (CD) and other posterior fossa morphological anomalies associated with mutations in…”
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A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele by Sironi, Alessandra, Bestetti, Ilaria, Masciadri, Maura, Tumiatti, Francesca, Crippa, Milena, Pantaleoni, Chiara, Russo, Silvia, D'Arrigo, Stefano, Milani, Donatella, Larizza, Lidia, Finelli, Palma

“…RAI1 is a dosage-sensitive gene whose decreased or increased expression by recurrent and non-recurrent 17p11.2 deletions or duplications causes Smith-Magenis…”
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Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region by Giovenale, Angela Maria Giada, Turco, Elisa Maria, Mazzoni, Martina, Ferrone, Ilaria, Torres, Barbara, Bernardini, Laura, Vulcano, Edvige, Ferrari, Daniela, Onesimo, Roberta, D’Arrigo, Stefano, Zampino, Giuseppe, Pennuto, Maria, De Luca, Alessandro, Vescovi, Angelo Luigi, Rosati, Jessica

“…Smith-Magenis syndrome (SMS) is a complex neurodevelopmental disorder with a birth incidence of 1:25,000. SMS is caused by haploinsufficiency of the retinoic…”
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22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder by Granocchio, Elisa, Pollina, Eleonora, De Salvatore, Marinella, Scopelliti, Maria R, Tanzi, Giorgia, Sciacca, Francesca L, D'Arrigo, Stefano, Ciaccio, Claudia

“…Patients carrying 22q13.33 duplication present variable neurodevelopmental phenotype. Among these, patients with genetic alteration disrupting SHANK3 gene are…”
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Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders by Cozzi, Marta, Magri, Stefania, Tedesco, Barbara, Patelli, Guglielmo, Ferrari, Veronica, Casarotto, Elena, Chierichetti, Marta, Pramaggiore, Paola, Cornaggia, Laura, Piccolella, Margherita, Galbiati, Mariarita, Rusmini, Paola, Crippa, Valeria, Mandrioli, Jessica, Pareyson, Davide, Pisciotta, Chiara, D’Arrigo, Stefano, Ratti, Antonia, Nanetti, Lorenzo, Mariotti, Caterina, Sarto, Elisa, Pensato, Viviana, Gellera, Cinzia, Di Bella, Daniela, Cristofani, Riccardo M., Taroni, Franco, Poletti, Angelo

“…Mutations targeting distinct domains of the neuron-specific kinesin KIF5A associate with different neurodegenerative/neurodevelopmental disorders, but the…”
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De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation by Zanni, Ginevra, Nardella, Marta, Barresi, Sabina, Bellacchio, Emanuele, Niceta, Marcello, Ciolfi, Andrea, Pro, Stefano, D'Arrigo, Stefano, Tartaglia, Marco, Bertini, Enrico

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