Works by Gagliardi, Monica

Results: 23

Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy.

Published in:

2013

By:

Dibilio, Valeria;
Cavalcanti, Francesca;
Nicoletti, Alessandra;
Mostile, Giovanni;
Bruno, Elisa;
Annesi, Grazia;
Tarantino, Patrizia;
Gagliardi, Monica;
Gambardella, Antonio;
Quattrone, Aldo;
Zappia, Mario

Publication type:

Letter

No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.

Published in:

Epilepsia (Series 4), 2015, v. 56, n. 4, p. e40, doi. 10.1111/epi.12944

By:

Mumoli, Laura;
Tarantino, Patrizia;
Michelucci, Roberto;
Bianchi, Amedeo;
Labate, Angelo;
Franceschetti, Silvana;
Marini, Carla;
Striano, Pasquale;
Gagliardi, Monica;
Ferlazzo, Edoardo;
Sofia, Vito;
Pennese, Loredana;
Annesi, Grazia;
Aguglia, Umberto;
Guerrini, Renzo;
Zara, Federico;
Gambardella, Antonio

Publication type:

Article

Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.

Published in:

Epilepsia (Series 4), 2012, v. 53, n. 12, p. e196, doi. 10.1111/epi.12009

By:

Labate, Angelo;
Tarantino, Patrizia;
Viri, Maurizio;
Mumoli, Laura;
Gagliardi, Monica;
Romeo, Antonino;
Zara, Federico;
Annesi, Grazia;
Gambardella, Antonio

Publication type:

Article

Dentatorubral-pallidoluysian atrophy: Haplotype of Asian origin in 2 Italian families.

Published in:

Movement Disorders, 2012, v. 27, n. 3, p. 460, doi. 10.1002/mds.24027

By:

Aridon, Paolo;
Tarantino, Patrizia;
Ragonese, Paolo;
D'Amelio, Marco;
Cinturino, Antono;
Salemi, Giuseppe;
Gagliardi, Monica;
Lo Re, Vincenzina;
Scarpitta, Antonio;
Gambardella, Antonio;
Quattrone, Aldo;
Annesi, Grazia;
Savettieri, Giovanni

Publication type:

Article

Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis.

Published in:

Neurological Sciences, 2023, v. 44, n. 4, p. 1393, doi. 10.1007/s10072-022-06541-7

By:

Bono, Francesco;
Rapisarda, Laura;
Bombardieri, Caterina;
Gagliardi, Monica;
Procopio, Radha;
Demonte, Giulio;
Tosto, Federico;
Bruno, Pietro A.;
Gambardella, Antonio;
Annesi, Grazia

Publication type:

Article

Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation.

Published in:

Neurological Sciences, 2022, v. 43, n. 3, p. 1791, doi. 10.1007/s10072-021-05613-4

By:

Salsone, Maria;
Arabia, Gennarina;
Annesi, Grazia;
Gagliardi, Monica;
Nistico, Rita;
Novellino, Fabiana;
Ferini-Strambi, Luigi;
Quattrone, Andrea;
Quattrone, Aldo

Publication type:

Article

Analysis of the LRP10 gene in patients with Parkinson's disease and dementia with Lewy bodies from Southern Italy.

Published in:

Neurological Sciences, 2021, v. 42, n. 1, p. 305, doi. 10.1007/s10072-020-04747-1

By:

Gagliardi, Monica;
Procopio, Radha;
Nicoletti, Giuseppe;
Morelli, Maurizio;
D'Amelio, Marco;
Quattrone, Aldo;
Annesi, Grazia

Publication type:

Article

Neuropsychological heterogeneity in patients with primary familial brain calcification due to a novel mutation in SLC20A2.

Published in:

2018

By:

Chiriaco, Carmelina;
Novellino, Fabiana;
Salsone, Maria;
Gagliardi, Monica;
Morelli, Maurizio;
Quattrone, Aldo

Publication type:

Case Study

MAPT Subhaplotypes in Different Progressive Supranuclear Palsy Phenotypes.

Published in:

Biomedicines, 2025, v. 13, n. 6, p. 1405, doi. 10.3390/biomedicines13061405

By:

Gagliardi, Monica;
Procopio, Radha;
Felicetti, Alessia;
Annesi, Grazia;
Talarico, Mariagrazia;
Vescio, Basilio;
Quattrone, Aldo;
Quattrone, Andrea

Publication type:

Article

Fahr's Disease Linked to a Novel SLC20A2 Gene Mutation Manifesting with Dynamic Aphasia.

Published in:

Neurodegenerative Diseases, 2014, v. 14, n. 3, p. 133, doi. 10.1159/000365216

By:

Brighina, Laura;
Saracchi, Enrico;
Ferri, Francesca;
Gagliardi, Monica;
Tarantino, Patrizia;
Morzenti, Sabrina;
Musarra, Monica;
Patassini, Mirko;
annesi, Grazia;
Ferrarese, Carlo

Publication type:

Article

FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation.

Published in:

PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0151359

By:

Di Sanzo, Maddalena;
Aversa, Ilenia;
Santamaria, Gianluca;
Gagliardi, Monica;
Panebianco, Mariafranca;
Biamonte, Flavia;
Zolea, Fabiana;
Faniello, Maria Concetta;
Cuda, Giovanni;
Costanzo, Francesco

Publication type:

Article

AKT1<sup>E17K</sup> Is Oncogenic in Mouse Lung and Cooperates with Chemical Carcinogens in Inducing Lung Cancer.

Published in:

PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0147334

By:

Malanga, Donatella;
Belmonte, Stefania;
Colelli, Fabiana;
Scarfò, Marzia;
De Marco, Carmela;
Oliveira, Duarte Mendes;
Mirante, Teresa;
Camastra, Caterina;
Gagliardi, Monica;
Rizzuto, Antonia;
Mignogna, Chiara;
Paciello, Orlando;
Papparella, Serenella;
Fagman, Henrik;
Viglietto, Giuseppe

Publication type:

Article

Focal neuromyotonia associated with a C9ORF72 expansion mutation.

Published in:

2020

By:

Fortunato, Francesco;
Bonapace, Giuseppe;
Gullace, Rosa;
Gagliardi, Monica;
Nisticò, Rita;
Valentino, Paola;
Gambardella, Antonio

Publication type:

Case Study

Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia.

Published in:

2024

By:

Procopio, Radha;
Fortunato, Francesco;
Gagliardi, Monica;
Talarico, Mariagrazia;
Sammarra, Ilaria;
Sarubbi, Maria Chiara;
Malanga, Donatella;
Annesi, Grazia;
Gambardella, Antonio

Publication type:

Case Study

A novel phenotype in an Italian family with a rare progranulin mutation.

Published in:

Journal of Neurology, 2022, v. 269, n. 11, p. 6170, doi. 10.1007/s00415-022-11285-7

By:

Russillo, Maria Claudia;
Sorrentino, Cristiano;
Scarpa, Alfonso;
Vinciguerra, Claudia;
Cicarelli, Giulio;
Cuoco, Sofia;
Gagliardi, Monica;
Talarico, Mariagrazia;
Procopio, Radha;
Quattrone, Andrea;
Barone, Paolo;
Pellecchia, Maria Teresa

Publication type:

Article

Glucose transporter‐1 deficiency syndrome with extreme phenotypic variability in a five‐generation family carrying a novel SLC2A1 variant.

Published in:

European Journal of Neurology, 2024, v. 31, n. 8, p. 1, doi. 10.1111/ene.16325

By:

Giugno, Alessia;
Falcone, Elena;
Fortunato, Francesco;
Sammarra, Ilaria;
Procopio, Radha;
Gagliardi, Monica;
Bauleo, Alessia;
de Stefano, Laura;
Martino, Iolanda;
Gambardella, Antonio

Publication type:

Article

An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.

Published in:

Neurogenetics, 2015, v. 16, n. 1, p. 55, doi. 10.1007/s10048-014-0425-x

By:

Quadri, Marialuisa;
Yang, Xu;
Cossu, Giovanni;
Olgiati, Simone;
Saddi, Valeria;
Breedveld, Guido;
Ouyang, Limei;
Hu, Jingchu;
Xu, Na;
Graafland, Josja;
Ricchi, Valeria;
Murgia, Daniela;
Guedes, Leonor;
Mariani, Claudio;
Marti, Maria;
Tarantino, Patrizia;
Asselta, Rosanna;
Valldeoriola, Francesc;
Gagliardi, Monica;
Pezzoli, Gianni

Publication type:

Article

Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson's disease from Southern Italy.

Published in:

NPJ Parkinson's Disease, 2025, v. 11, n. 1, p. 1, doi. 10.1038/s41531-025-00915-2

By:

Gagliardi, Monica;
Procopio, Radha;
Annesi, Grazia;
Buonocore, Jolanda;
Talarico, Mariagrazia;
Quattrone, Aldo;
Quattrone, Andrea

Publication type:

Article

Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia.

Published in:

Epilepsia Open, 2024, v. 9, n. 3, p. 951, doi. 10.1002/epi4.12920

By:

Talarico, Mariagrazia;
Fortunato, Francesco;
Labalme, Audrey;
Januel, Louis;
Chatron, Nicolas;
Sanlaville, Damien;
Sammarra, Ilaria;
Gagliardi, Monica;
Procopio, Radha;
Valentino, Paola;
Annesi, Grazia;
Lesca, Gaetan;
Gambardella, Antonio

Publication type:

Article

Modeling Sporadic Progressive Supranuclear Palsy in 3D Midbrain Organoids: Recapitulating Disease Features for In Vitro Diagnosis and Drug Discovery.

Published in:

Annals of Neurology, 2025, v. 97, n. 5, p. 845, doi. 10.1002/ana.27172

By:

Parrotta, Elvira Immacolata;
Lucchino, Valeria;
Zannino, Clara;
Valente, Desirèe;
Scalise, Stefania;
Bressan, Davide;
Benedetto, Giorgia Lucia;
Iazzetta, Maria Roberta;
Talarico, Mariagrazia;
Gagliardi, Monica;
Conforti, Francesco;
Di Agostino, Silvia;
Fiorenzano, Alessandro;
Quattrone, Aldo;
Cuda, Giovanni;
Quattrone, Andrea

Publication type:

Article

A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies.

Published in:

Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00514

By:

Musumeci, Olimpia;
Ferlazzo, Edoardo;
Rodolico, Carmelo;
Gambardella, Antonio;
Gagliardi, Monica;
Aguglia, Umberto;
Toscano, Antonio

Publication type:

Article

Novel KCNQ2 Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 1, p. 295, doi. 10.3390/ijms26010295

By:

Talarico, Mariagrazia;
Procopio, Radha;
Gagliardi, Monica;
Sarubbi, Maria Chiara;
Fortunato, Francesco;
Sammarra, Ilaria;
Lesca, Gaetan;
Malanga, Donatella;
Annesi, Grazia;
Gambardella, Antonio

Publication type:

Article

Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures.

Published in:

Genes, 2024, v. 15, n. 11, p. 1407, doi. 10.3390/genes15111407

By:

Procopio, Radha;
Gagliardi, Monica;
Talarico, Mariagrazia;
Fortunato, Francesco;
Sammarra, Ilaria;
Procopio, Anna Caterina;
Roncada, Paola;
Malanga, Donatella;
Annesi, Grazia;
Gambardella, Antonio

Publication type:

Article