Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases

por Sferra, Antonella, Nicita, Francesco, Bertini, Enrico
Publicado 2020

Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report

por Nicita, Francesco, Travaglini, Lorena, Bombelli, Francesco, Tosi, Michele, Pro, Stefano, Bertini, Enrico, D'Amico, Adele
Publicado 2021

Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma

por Parisi, Pasquale, Persechino, Severino, Paolino, Maria Chiara, Nicita, Francesco, Torrente, Isabella, Bozzao, Alessandro, Villa, Maria Pia
Publicado 2013

Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS)

por Nicita, Francesco, Aiello, Chiara, Vasco, Gessica, Valeriani, Massimiliano, Stregapede, Fabrizia, Sancesario, Andrea, Armando, Michela, Bertini, Enrico
Publicado 2021

“Epileptic Encephalopathy” of Infancy and Childhood: Electro-Clinical Pictures and Recent Understandings

por Parisi, Pasquale, Spalice, Alberto, Nicita, Francesco, Papetti, Laura, Ursitti, Fabiana, Verrotti, Alberto, Iannetti, Paola, Villa, Maria Pia
Publicado 2010

Recent Understanding on Diagnosis and Management of Central Nervous System Vasculitis in Children

por Iannetti, Ludovico, Zito, Roberta, Bruschi, Simone, Papetti, Laura, Ulgiati, Fiorenza, Nicita, Francesco, Del Balzo, Francesca, Spalice, Alberto
Publicado 2012

Neurological features of 14q24-q32 interstitial deletion: report of a new case

por Nicita, Francesco, Di Giacomo, Marilena, Palumbo, Orazio, Ferri, Emanuela, Maiorani, Daniela, Vigevano, Federico, Carella, Massimo, Capuano, Alessandro
Publicado 2015

Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts

por Petrillo, Sara, D’Amico, Jessica, Nicita, Francesco, Torda, Caterina, Vasco, Gessica, Bertini, Enrico S., Cappa, Marco, Piemonte, Fiorella
Publicado 2022

Migraine treatment in developmental age: guidelines update

por Papetti, Laura, Spalice, Alberto, Nicita, Francesco, Paolino, Maria Chiara, Castaldo, Rosa, Iannetti, Paola, Villa, Maria Pia, Parisi, Pasquale
Publicado 2010

Stroke and migraine is there a possible comorbidity?

por Spalice, Alberto, Del Balzo, Francesca, Papetti, Laura, Zicari, Anna Maria, Properzi, Enrico, Occasi, Francesca, Nicita, Francesco, Duse, Marzia
Publicado 2016

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

por Garone, Giacomo, Capuano, Alessandro, Travaglini, Lorena, Graziola, Federica, Stregapede, Fabrizia, Zanni, Ginevra, Vigevano, Federico, Bertini, Enrico, Nicita, Francesco
Publicado 2020

Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II

por Nicita, Francesco, Sabatini, Letizia, Alesi, Viola, Lucignani, Giulia, Sallicandro, Ester, Sferra, Antonella, Bertini, Enrico, Zanni, Ginevra, Palumbo, Giuseppe
Publicado 2022

A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum

por Colona, Vito Luigi, Bertini, Enrico, Digilio, Maria Cristina, D’Amico, Adele, Novelli, Antonio, Pro, Stefano, Pisaneschi, Elisa, Nicita, Francesco
Publicado 2023

Clinical and Pharmacological Aspects of Inflammatory Demyelinating Diseases in Childhood: An Update

por Spalice, Alberto, Parisi, Pasquale, Papetti, Laura, Nicita, Francesco, Ursitti, Fabiana, Del Balzo, Francesca, Properzi, Enrico, Verrotti, Alberto, Ruggieri, Martino, Iannetti, Paola
Publicado 2010

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

por Zicari, Anna Maria, Tarani, Luigi, Perotti, Daniela, Papetti, Laura, Nicita, Francesco, Liberati, Natascia, Spalice, Alberto, Salvatori, Guglielmo, Guaraldi, Federica, Duse, Marzia
Publicado 2012

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics

por Sferra, Antonella, Petrini, Stefania, Bellacchio, Emanuele, Nicita, Francesco, Scibelli, Francesco, Dentici, Maria Lisa, Alfieri, Paolo, Cestra, Gianluca, Bertini, Enrico Silvio, Zanni, Ginevra
Publicado 2020

Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

por Diociaiuti, Andrea, Martinelli, Diego, Nicita, Francesco, Cesario, Claudia, Pisaneschi, Elisa, Macchiaiolo, Marina, Rossi, Sabrina, Condorelli, Angelo Giuseppe, Zambruno, Giovanna, El Hachem, May
Publicado 2021

Mean Platelet Volume, Vitamin D and C Reactive Protein Levels in Normal Weight Children with Primary Snoring and Obstructive Sleep Apnea Syndrome

por Zicari, Anna Maria, Occasi, Francesca, Di Mauro, Federica, Lollobrigida, Valeria, Di Fraia, Marco, Savastano, Vincenzo, Loffredo, Lorenzo, Nicita, Francesco, Spalice, Alberto, Duse, Marzia
Publicado 2016

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in So...

por 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
Publicado 2020

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network

por 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
Publicado 2022