Výsledky vyhledávání - Nicita, Francesco

Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases Autor Sferra, Antonella, Nicita, Francesco, Bertini, Enrico

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Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report Autor Nicita, Francesco, Travaglini, Lorena, Bombelli, Francesco, Tosi, Michele, Pro, Stefano, Bertini, Enrico, D'Amico, Adele

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Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma Autor Parisi, Pasquale, Persechino, Severino, Paolino, Maria Chiara, Nicita, Francesco, Torrente, Isabella, Bozzao, Alessandro, Villa, Maria Pia

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Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS) Autor Nicita, Francesco, Aiello, Chiara, Vasco, Gessica, Valeriani, Massimiliano, Stregapede, Fabrizia, Sancesario, Andrea, Armando, Michela, Bertini, Enrico

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“Epileptic Encephalopathy” of Infancy and Childhood: Electro-Clinical Pictures and Recent Understandings Autor Parisi, Pasquale, Spalice, Alberto, Nicita, Francesco, Papetti, Laura, Ursitti, Fabiana, Verrotti, Alberto, Iannetti, Paola, Villa, Maria Pia

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Recent Understanding on Diagnosis and Management of Central Nervous System Vasculitis in Children Autor Iannetti, Ludovico, Zito, Roberta, Bruschi, Simone, Papetti, Laura, Ulgiati, Fiorenza, Nicita, Francesco, Del Balzo, Francesca, Spalice, Alberto

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Migraine treatment in developmental age: guidelines update Autor Papetti, Laura, Spalice, Alberto, Nicita, Francesco, Paolino, Maria Chiara, Castaldo, Rosa, Iannetti, Paola, Villa, Maria Pia, Parisi, Pasquale

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Stroke and migraine is there a possible comorbidity? Autor Spalice, Alberto, Del Balzo, Francesca, Papetti, Laura, Zicari, Anna Maria, Properzi, Enrico, Occasi, Francesca, Nicita, Francesco, Duse, Marzia

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Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias Autor Garone, Giacomo, Capuano, Alessandro, Travaglini, Lorena, Graziola, Federica, Stregapede, Fabrizia, Zanni, Ginevra, Vigevano, Federico, Bertini, Enrico, Nicita, Francesco

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Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II Autor Nicita, Francesco, Sabatini, Letizia, Alesi, Viola, Lucignani, Giulia, Sallicandro, Ester, Sferra, Antonella, Bertini, Enrico, Zanni, Ginevra, Palumbo, Giuseppe

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Clinical and Pharmacological Aspects of Inflammatory Demyelinating Diseases in Childhood: An Update Autor Spalice, Alberto, Parisi, Pasquale, Papetti, Laura, Nicita, Francesco, Ursitti, Fabiana, Del Balzo, Francesca, Properzi, Enrico, Verrotti, Alberto, Ruggieri, Martino, Iannetti, Paola

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WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features Autor Zicari, Anna Maria, Tarani, Luigi, Perotti, Daniela, Papetti, Laura, Nicita, Francesco, Liberati, Natascia, Spalice, Alberto, Salvatori, Guglielmo, Guaraldi, Federica, Duse, Marzia

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TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics Autor Sferra, Antonella, Petrini, Stefania, Bellacchio, Emanuele, Nicita, Francesco, Scibelli, Francesco, Dentici, Maria Lisa, Alfieri, Paolo, Cestra, Gianluca, Bertini, Enrico Silvio, Zanni, Ginevra

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Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization Autor Diociaiuti, Andrea, Martinelli, Diego, Nicita, Francesco, Cesario, Claudia, Pisaneschi, Elisa, Macchiaiolo, Marina, Rossi, Sabrina, Condorelli, Angelo Giuseppe, Zambruno, Giovanna, El Hachem, May

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Mean Platelet Volume, Vitamin D and C Reactive Protein Levels in Normal Weight Children with Primary Snoring and Obstructive Sleep Apnea Syndrome Autor Zicari, Anna Maria, Occasi, Francesca, Di Mauro, Federica, Lollobrigida, Valeria, Di Fraia, Marco, Savastano, Vincenzo, Loffredo, Lorenzo, Nicita, Francesco, Spalice, Alberto, Duse, Marzia

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A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in So... Autor D’Amico, Adele, Fattori, Fabiana, Nicita, Francesco, Barresi, Sabina, Tasca, Giorgio, Verardo, Margherita, Pizzi, Simone, Moroni, Isabella, De Mitri, Francesca, Frongia, Annalia, Pane, Marika, Mercuri, Eugenio, Tartaglia, Marco, Bertini, Enrico

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“Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant Autor Nicita, Francesco, Stregapede, Fabrizia, Deodato, Federica, Pizzi, Simone, Martinelli, Simone, Pagliara, Daria, Aiello, Chiara, Cumbo, Francesca, Piemonte, Fiorella, D’Amico, Jessica, Pro, Stefano, Longo, Daniela, Genovese, Silvia, Tartaglia, Marco, Escolar, Maria L., Bertini, Enrico, Travaglini, Lorena

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Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network Autor Rossi, Salvatore, Rubegni, Anna, Riso, Vittorio, Barghigiani, Melissa, Bassi, Maria Teresa, Battini, Roberta, Bertini, Enrico, Cereda, Cristina, Cioffi, Ettore, Criscuolo, Chiara, Dal Fabbro, Beatrice, Dato, Clemente, D'Angelo, Maria Grazia, Di Muzio, Antonio, Diamanti, Luca, Dotti, Maria Teresa, Filla, Alessandro, Gioiosa, Valeria, Liguori, Rocco, Martinuzzi, Andrea, Massa, Roberto, Mignarri, Andrea, Moroni, Rossana, Musumeci, Olimpia, Nicita, Francesco, Orologio, Ilaria, Orsi, Laura, Pegoraro, Elena, Petrucci, Antonio, Plumari, Massimo, Ricca, Ivana, Rizzo, Giovanni, Romano, Silvia, Rumore, Roberto, Sampaolo, Simone, Scarlato, Marina, Seri, Marco, Stefan, Cristina, Straccia, Giulia, Tessa, Alessandra, Travaglini, Lorena, Trovato, Rosanna, Ulgheri, Lucia, Vazza, Giovanni, Orlacchio, Antonio, Silvestri, Gabriella, Santorelli, Filippo Maria, Melone, Mariarosa Anna Beatrice, Casali, Carlo

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Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort Autor Po', Chiara, Nosadini, Margherita, Zedde, Marialuisa, Pascarella, Rosario, Mirone, Giuseppe, Cicala, Domenico, Rosati, Anna, Cosi, Alessandra, Toldo, Irene, Colombatti, Raffaella, Martelli, Paola, Iodice, Alessandro, Accorsi, Patrizia, Giordano, Lucio, Savasta, Salvatore, Foiadelli, Thomas, Sanfilippo, Giuseppina, Lafe, Elvis, Thyrion, Federico Zappoli, Polonara, Gabriele, Campa, Serena, Raviglione, Federico, Scelsa, Barbara, Bova, Stefania Maria, Greco, Filippo, Cordelli, Duccio Maria, Cirillo, Luigi, Toni, Francesco, Baro, Valentina, Causin, Francesco, Frigo, Anna Chiara, Suppiej, Agnese, Sainati, Laura, Azzolina, Danila, Agostini, Manuela, Cesaroni, Elisabetta, De Carlo, Luigi, Di Rosa, Gabriella, Esposito, Giacomo, Grazian, Luisa, Morini, Giovanna, Nicita, Francesco, Operto, Francesca Felicia, Pruna, Dario, Ragazzi, Paola, Rollo, Massimo, Spalice, Alberto, Striano, Pasquale, Skabar, Aldo, Lanterna, Luigi Alberto, Carai, Andrea, Marras, Carlo Efisio, Manara, Renzo, Sartori, Stefano

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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations Autor Rodan, Lance H., Spillmann, Rebecca C., Kurata, Harley T., Lamothe, Shawn M., Maghera, Jasmine, Jamra, Rami Abou, Alkelai, Anna, Antonarakis, Stylianos E., Atallah, Isis, Bar-Yosef, Omer, Bilan, Frédéric, Bjorgo, Kathrine, Blanc, Xavier, Van Bogaert, Patrick, Bolkier, Yoav, Burrage, Lindsay C., Christ, Björn U., Granadillo, Jorge L., Dickson, Patricia, Donald, Kirsten A., Dubourg, Christèle, Eliyahu, Aviva, Emrick, Lisa, Engleman, Kendra, Gonfiantini, Michaela Veronika, Good, Jean-Marc, Kalser, Judith, Kloeckner, Chiara, Lachmeijer, Guus, Macchiaiolo, Marina, Nicita, Francesco, Odent, Sylvie, O’Heir, Emily, Ortiz-Gonzalez, Xilma, Pacio-Miguez, Marta, Palomares-Bralo, María, Pena, Loren, Platzer, Konrad, Quinodoz, Mathieu, Ranza, Emmanuelle, Rosenfeld, Jill A., Roulet-Perez, Eliane, Santani, Avni, Santos-Simarro, Fernando, Pode-Shakked, Ben, Skraban, Cara, Slaugh, Rachel, Superti-Furga, Andrea, Thiffault, Isabelle, van Jaabrsveld, Richard H., Vincent, Marie, Wang, Hong-Gang, Zacher, Pia, Rush, Eric, Pitt, Geoffrey, Au, Ping Yee Billie, Shashi, Vandana

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