Showing 1 - 11 results of 11 for search 'Serena Galosi', query time: 0.04s
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Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study by Mario Mastrangelo, Serena Galosi, Serena Cesario, Alessia Renzi, Lucilla Campea, Vincenzo Leuzzi
Published 2022-06-01
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Phenotypic Assessment of Pathogenic Variants in <i>GNAO1</i> and Response to Caffeine in <i>C. elegans</i> Models of the Disease by Martina Di Rocco, Serena Galosi, Francesca C. Follo, Enrico Lanza, Viola Folli, Alberto Martire, Vincenzo Leuzzi, Simone Martinelli
Published 2023-01-01
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Bradykinesia and dystonia by Giulia Paparella, Giulia Paparella, Andrea Guerra, Serena Galosi, Antonio Cannavacciuolo, Luca Angelini, Traian Popa, Alfredo Berardelli, Alfredo Berardelli, Matteo Bologna, Matteo Bologna
Published 2023-08-01
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3-Methylglutaconic Aciduria Type I Due to <i>AUH</i> Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature by Francesca Nardecchia, Anna Caciotti, Teresa Giovanniello, Sabrina De Leo, Lorenzo Ferri, Serena Galosi, Silvia Santagata, Barbara Torres, Laura Bernardini, Claudia Carducci, Amelia Morrone, Vincenzo Leuzzi
Published 2022-04-01
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Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation by Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose Gelineau-Morel, Shimul Chowdhury, on behalf of Rady Children’s Institute for Genomic Medicine Investigators, Jennifer Friedman
Published 2020-06-01
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The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans by Luca Pannone, Valentina Muto, Francesca Nardecchia, Martina Di Rocco, Martina Di Rocco, Emilia Marchei, Federica Tosato, Stefania Petrini, Giada Onorato, Giada Onorato, Enrico Lanza, Enrico Lanza, Lucia Bertuccini, Filippo Manti, Viola Folli, Viola Folli, Serena Galosi, Elia Di Schiavi, Vincenzo Leuzzi, Marco Tartaglia, Simone Martinelli
Published 2023-05-01
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NGS in Hereditary Ataxia: When Rare Becomes Frequent by Daniele Galatolo, Giovanna De Michele, Gabriella Silvestri, Vincenzo Leuzzi, Carlo Casali, Olimpia Musumeci, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Caterina Caputi, Ettore Cioffi, Giuseppe De Michele, Maria Teresa Dotti, Tommasina Fico, Chiara Fiorillo, Serena Galosi, Maria Lieto, Alessandro Malandrini, Marina A. B. Melone, Andrea Mignarri, Gemma Natale, Elena Pegoraro, Antonio Petrucci, Ivana Ricca, Vittorio Riso, Salvatore Rossi, Anna Rubegni, Arianna Scarlatti, Francesca Tinelli, Rosanna Trovato, Gioacchino Tedeschi, Alessandra Tessa, Alessandro Filla, Filippo Maria Santorelli
Published 2021-08-01
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