Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review

por Rizzi, Susanna, Spagnoli, Carlotta, Frattini, Daniele, Pisani, Francesco, Fusco, Carlo
Publicado 2022

Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report

por Spagnoli, Carlotta, Rizzi, Susanna, Salerno, Grazia Gabriella, Frattini, Daniele, Fusco, Carlo
Publicado 2019

A Novel Family with Demyelinating Charcot–Marie–Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature

por Baga, Margherita, Rizzi, Susanna, Spagnoli, Carlotta, Frattini, Daniele, Pisani, Francesco, Fusco, Carlo
Publicado 2023

Tolosa-Hunt syndrome and recurrent painful ophthalmoplegic neuropathy, case reports: what to do and when?

por Frattini, Daniele, Iodice, Alessandro, Spagnoli, Carlotta, Rizzi, Susanna, Cesaroni, Carlo Alberto, Cappella, Michela, Fusco, Carlo
Publicado 2023

“Neuropsychological and behavioral disorders as presentation symptoms in two brothers with early-infantile Niemann-Pick type C”

por Soliani, Luca, Salerno, Grazia Gabriella, Pisani, Francesco, Barigazzi, Ilaria, Rizzi, Susanna, Spagnoli, Carlotta, Frattini, Daniele, Zangrandi, Andrea, Fusco, Carlo
Publicado 2020

Infantile-Onset Charcot–Marie–Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Litera...

por Frongia, Ivana, Rizzi, Susanna, Baga, Margherita, Ceteroni, Laura Maria, Spagnoli, Carlotta, Salerno, Grazia Gabriella, Frattini, Daniele, Kaare, Milja, Pisani, Francesco, Fusco, Carlo
Publicado 2021

Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders

por Rizzi, Susanna, Spagnoli, Carlotta, Bellini, Melissa, Cesaroni, Carlo Alberto, Spezia, Elisabetta, Bergonzini, Patrizia, Caramaschi, Elisa, Soliani, Luca, Turco, Emanuela Claudia, Piccolo, Benedetta, Demuth, Laura, Cordelli, Duccio Maria, Biasucci, Giacomo, Frattini, Daniele, Fusco, Carlo
Publicado 2023

Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures

por Cesaroni, Carlo Alberto, Pollazzon, Marzia, Mancini, Cecilia, Rizzi, Susanna, Cappelletti, Camilla, Pizzi, Simone, Frattini, Daniele, Spagnoli, Carlotta, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Trimarchi, Gabriele, Niceta, Marcello, Radio, Francesca Clementina, Tartaglia, Marco, Garavelli, Livia, Fusco, Carlo
Publicado 2023

Patterns and predictors of language representation and the influence of epilepsy surgery on language reorganization in children and young adults with focal lesional epilepsy

por Barba, Carmen, Montanaro, Domenico, Grisotto, Laura, Frijia, Francesca, Pellacani, Simona, Cavalli, Anna, Rizzi, Susanna, Lenge, Matteo, Aghakhanyan, Gayane, Sibilia, Valentina, Giordano, Flavio, Pisano, Tiziana, Mari, Francesco, Melani, Federico, Cherubini, Andrea, Buccoliero, Annamaria, Caligiuri, Maria Eugenia, Guerrini, Renzo
Publicado 2020

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum

por Contrò, Gianluca, Micalizzi, Alessia, Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Rosato, Simonetta, Pollazzon, Marzia, Terracciano, Alessandra, Napoli, Manuela, Rizzi, Susanna, Salerno, Grazia Gabriella, Radio, Francesca Clementina, Niceta, Marcello, Parrini, Elena, Fusco, Carlo, Gargano, Giancarlo, Guerrini, Renzo, Tartaglia, Marco, Novelli, Antonio, Zuffardi, Orsetta, Garavelli, Livia
Publicado 2021