检索结果 - Nicita, Francesco

Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases 由 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 由 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 由 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) 由 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 由 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 由 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 由 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? 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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... 由 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 由 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 由 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 由 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 由 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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