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6 results on '"Mario Fratta"'

1. The impact of PM2.5, PM10 and NO2 on Covid-19 severity in a sample of patients with multiple sclerosis: A case-control study

Author

Ponzano, Marta, primary, Schiavetti, Irene, additional, Bergamaschi, Roberto, additional, Pisoni, Enrico, additional, Bellavia, Andrea, additional, Mallucci, Giulia, additional, Carmisciano, Luca, additional, Inglese, Matilde, additional, Cordioli, Cinzia, additional, Marfia, Girolama Alessandra, additional, Cocco, Eleonora, additional, Immovilli, Paolo, additional, Pesci, Ilaria, additional, Scandellari, Cinzia, additional, Cavalla, Paola, additional, Radaelli, Marta, additional, Vianello, Marika, additional, Vitetta, Francesca, additional, Montepietra, Sara, additional, Amato, Maria Pia, additional, Fioretti, Cristina, additional, Filippi, Massimo, additional, Sartori, Arianna, additional, Caleri, Francesca, additional, Clerico, Marinella, additional, Gallo, Antonio, additional, Conte, Antonella, additional, Clerici, Raffaella, additional, De Luca, Giovanna, additional, Boneschi, Filippo Martinelli, additional, Cantello, Roberto, additional, Calabrese, Massimiliano, additional, Tortorella, Carla, additional, Rovaris, Marco, additional, Verrengia, Elena Pinuccia, additional, Patti, Francesco, additional, Morra, Vincenzo Brescia, additional, Salvetti, Marco, additional, Sormani, Maria Pia, additional, Gianmarco, Abbadessa, additional, Umberto, Aguglia, additional, Lia, Allegorico, additional, Maria, Allegri Rossi Beatrice, additional, Anastasia, Alteno, additional, Pia, Amato Maria, additional, Pietro, Annovazzi, additional, Carlo, Antozzi, additional, Lucia, Appendino, additional, Sebastiano, Arena, additional, Viola, Baione, additional, Roberto, Balgera, additional, Valeria, Barcella, additional, Damiano, Baroncini, additional, Caterina, Barrilà, additional, Mario A, Battaglia, additional, Alessandra, Bellacosa, additional, Gianmarco, Bellucci, additional, Roberto, Bergamaschi, additional, Valeria, Bergamaschi, additional, Daiana, Bezzini, additional, Beatrice, Biolzi, additional, Alvino, Bisecco, additional, Simona, Bonavita, additional, Giovanna, Borriello, additional, Chiara, Bosa, additional, Antonio, Bosco, additional, Francesca, Bovis, additional, Marco, Bozzali, additional, Laura, Brambilla, additional, Vincenzo, Brescia Morra, additional, Giampaolo, Brichetto, additional, Maria, Buccafusca, additional, Elisabetta, Bucciantini, additional, Sebastiano, Bucello, additional, Chiara, Buscarinu Maria, additional, Paola, Cabboi Maria, additional, Massimiliano, Calabrese, additional, Francesca, Calabria, additional, Francesca, Caleri, additional, Federico, Camilli, additional, Maria, Caniatti Luisa, additional, Roberto, Cantello, additional, Marco, Capobianco, additional, Ruggero, Capra, additional, Rocco, Capuano, additional, Luca, Carmisciano, additional, Patrizia, Carta, additional, Paola, Cavalla, additional, Grazia, Celani Maria, additional, Maria, Cellerino, additional, Raffaella, Cerqua, additional, Clara, Chisari, additional, Raffaella, Clerici, additional, Marinella, Clerico, additional, Eleonora, Cocco, additional, Gaia, Cola, additional, Giancarlo, Comi, additional, Paolo, Confalonieri, additional, Antonella, Conte, additional, Zaffira, Conti Marta, additional, Christian, Cordano, additional, Susanna, Cordera, additional, Cinzia, Cordioli, additional, Francesco, Corea, additional, Claudio, Correale, additional, Salvatore, Cottone, additional, Francesco, Crescenzo, additional, Erica, Curti, additional, Alessandro, d'Ambrosio, additional, Emanuele, D'Amico, additional, Chiara, Danni Maura, additional, Alessia, d'Arma, additional, Vincenzo, Dattola, additional, Stefano, de Biase, additional, Giovanna, De Luca, additional, Federica, De Mercanti Stefania, additional, Paolo, De Mitri, additional, Nicola, De Rossi, additional, Nicola, De Stefano, additional, Maria, Della Cava Fabio, additional, Marco, Della Cava, additional, Sonia, Di Lemme, additional, Mario, di Napoli, additional, Alessia, Di Sapio, additional, Renato, Docimo, additional, Anna, Dutto, additional, Luana, Evangelista, additional, Salvatore, Fanara, additional, Roberta, Fantozzi, additional, Diana, Ferraro, additional, Teresa, Ferrò Maria, additional, Massimo, Filippi, additional, Cristina, Fioretti, additional, Mario, Fratta, additional, Jessica, Frau, additional, Marzia, Fronza, additional, Roberto, Furlan, additional, Alberto, Gajofatto, additional, Antonio, Gallo, additional, Paolo, Gallo, additional, Claudio, Gasperini, additional, Anna, Ghazaryan, additional, Bruno, Giometto, additional, Francesca, Gobbin, additional, Flora, Govone, additional, Franco, Granella, additional, Erica, Grange, additional, Grazia, Grasso Maria, additional, Luigi ME, Grimaldi, additional, Angelica, Guareschi, additional, Clara, Guaschino, additional, Simone, Guerrieri, additional, Donata, Guidetti, additional, Barbara, Juergenson Ina, additional, Pietro, Iaffaldano, additional, Antonio, Ianniello, additional, Luigi, Iasevoli, additional, Paolo, Immovilli, additional, Daniele, Imperiale, additional, Teresa, Infante Maria, additional, Matilde, Inglese, additional, Rosa, Iodice, additional, Aniello, Iovino, additional, Giovanna, Konrad, additional, Doriana, Landi, additional, Roberta, Lanzillo, additional, Caterina, Lapucci, additional, Luigi, Lavorgna, additional, Rita, L'Episcopo Maria, additional, Serena, Leva, additional, Giuseppe, Liberatore, additional, Marianna, Lo Re, additional, Marco, Longoni, additional, Leonardo, Lopiano, additional, Lorena, Lorefice, additional, Matteo, Lucchini, additional, Giacomo, Lus, additional, Davide, Maimone, additional, Maria, Malentacchi, additional, Giulia, Mallucci, additional, Simona, Malucchi, additional, Rosa, Mancinelli Chiara, additional, Luca, Mancinelli, additional, Paolo, Manganotti, additional, Teresa, Maniscalco Giorgia, additional, Vittorio, Mantero, additional, Sabrina, Marangoni, additional, Damiano, Marastoni, additional, Alessandra, Marfia Girolama, additional, Fabiana, Marinelli, additional, Alessandro, Marti, additional, Filippo, Martinelli Boneschi, additional, Federco, Masserano Zoli, additional, Francesca, Matta, additional, Laura, Mendozzi, additional, Giuseppe, Meucci, additional, Silvia, Miante, additional, Giuseppina, Miele, additional, Eva, Milano, additional, Massimiliano, Mirabella, additional, Rosanna, Missione, additional, Marcello, Moccia, additional, Lucia, Moiola, additional, Sara, Montepietra, additional, Margherita, MontiBragadin, additional, Federico, Montini, additional, Roberta, Motta, additional, Raffaele, Nardone, additional, Gabri, Nicoletti Carolina, additional, Eduardo, Nobile-Orazio, additional, Agostino, Nozzolillo, additional, Marco, Onofrj, additional, Riccardo, Orlandi, additional, Anna, Palmieri, additional, Damiano, Paolicelli, additional, Livia, Pasquali, additional, Fulvio, Pasquin, additional, Luisa, Pastò, additional, Francesco, Patti, additional, Elisabetta, Pedrazzoli, additional, Paola, Perini, additional, Ilaria, Pesci, additional, Maria, Petracca, additional, Alfredo, Petrone, additional, Carlo, Piantadosi, additional, Anna M, Pietroboni, additional, Federica, Pinardi, additional, Marta, Ponzano, additional, Emilio, Portaccio, additional, Mattia, Pozzato, additional, Carlo, Pozzilli, additional, Luca, Prosperini, additional, Alessandra, Protti, additional, Eugenio, Pucci, additional, Marta, Radaelli, additional, Paolo, Ragonese, additional, Sarah, Rasia, additional, Sabrina, Realmuto, additional, Anna, Repice, additional, Eleonora, Rigoni, additional, Teresa, Rilla Maria, additional, Francesca, Rinaldi, additional, Marcello, Romano Calogero, additional, Marco, Ronzoni, additional, Marco, Rovaris, additional, Francesca, Ruscica, additional, Loredana, Sabattini, additional, Giuseppe, Salemi, additional, Marco, Salvetti, additional, Lorenzo, Saraceno, additional, Alessia, Sartori, additional, Arianna, Sartori, additional, Elvira, Sbragia, additional, Cinzia, Scandellari, additional, Ilaria, Scarano Giuditta, additional, Valentina, Scarano, additional, Irene, Schiavetti, additional, Maria, Sessa, additional, Caterina, Sgarito, additional, Grazia, Sibilia, additional, Gabriele, Siciliano, additional, Alessio, Signori, additional, Elisabetta, Signoriello, additional, Leonardo, Sinisi, additional, Francesca, Sireci, additional, Patrizia, Sola, additional, Claudio, Solaro, additional, Pia, Sormani Maria, additional, Stefano, Sotgiu, additional, Maddalena, Sparaco, additional, Laura, Stromillo Maria, additional, Silvia, Strumia, additional, Laura, Susani Emanuela, additional, Giulietta, Tabiadon, additional, Francesco, Teatini, additional, Gioacchino, Tedeschi, additional, Valentina, Tomassini, additional, Simone, Tonietti, additional, Valentina, Torri Clerici, additional, Carla, Tortorella, additional, Simona, Toscano, additional, Rocco, Totaro, additional, Maria, Trojano, additional, Maria, Trotta, additional, Gabriella, Turano, additional, Monica, Ulivelli, additional, Manzo, Valentino, additional, Giovanna, Vaula, additional, Domizia, Vecchio, additional, Marco, Vercellino, additional, Pinuccia, Verrengia Elena, additional, Marika, Vianello, additional, Eleonora, Virgilio, additional, Francesca, Vitetta, additional, Stefano, Vollaro, additional, Mauro, Zaffaroni, additional, Mauro, Zampolini, additional, Roberto, Zarbo Ignazio, additional, Antonio, Zito, additional, and Luigi, Zuliani, additional

Published
2022
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2. Hydranencephaly in CENPJ-related Seckel syndrome

Author

Claudia, Cuccurullo, Giuseppina, Miele, Gianluca, Piccolo, Leonilda, Bilo, Andrea, Accogli, Alessandra, D'Amico, Mario, Fratta, Sara, Guerrisi, Michele, Iacomino, Vincenzo, Salpietro, Lorenzo, Ugga, Pasquale, Striano, and Antonietta, Coppola

Subjects
Intellectual Disability, Mutation, Microcephaly, Genetics, Humans, Facies, Dwarfism, General Medicine, Microtubule-Associated Proteins, Genetics (clinical), Hydranencephaly
Abstract

Pathogenic variants in CENPJ have been first identified in consanguineous Pakistani families with Hereditary Primary Microcephaly type 6 (MCPH6). In addition to primary microcephaly, the CENPJ-related phenotypic spectrum lately included also distinctive and peculiar 'bird-like' craniofacial dysmorphisms, intrauterine and/or postnatal growth retardation, and moderate to severe intellectual disability (ID). These features are also part of the clinical spectrum of Seckel syndrome (SCKL) a genetically heterogeneous neurodevelopmental condition caused by mutations in different genes involved in cell cycle progression. Among these, CENPJ is responsible for type 4 Seckel syndrome (SCKL4). The literature reports two individuals affected by SCKL4 suffering from seizures and other two individuals with other brain malformations in addition to microcephaly. However, neither epilepsy nor brain malformations are described in detail and genotype-phenotype information remains limited. We describe the first Caucasian affected with SCKL4 and harboring a novel, homozygous mutation in CENPJ. We detail the clinical and neuroradiological findings including structural focal epilepsy and a severe brain malformation (i.e., hydranencephaly) that was never associated with SCKL4 to date.

Published
2022
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3. Ocrelizumab treatment in multiple sclerosis: Prospective real world observational multi-center study in Campania, Italy

Author

Lanzillo, Roberta, primary, Carotenuto, Antonio, additional, Moccia, Marcello, additional, Capasso, Nicola, additional, Petracca, Maria, additional, Spiezia, Antonio, additional, Maniscalco, Giorgia, additional, Di Gregorio, Maria, additional, Sinisi, Leonardo, additional, Iodice, Rosa, additional, Dubbioso, Raffaele, additional, Bonavita, Simona, additional, Miele, Giuseppina, additional, Lus, Giacomo, additional, Signoriello, Elisabetta, additional, Mario, Fratta, additional, Bisecco, Alvino, additional, Felice, Romano, additional, Tedeschi, Gioacchino, additional, and Morra, Vincenzo Brescia, additional

Published
2021
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4. Hydranencephaly: A case report of A 32-year-old woman with preserved walking ability

Author

Mario Fratta, Lorenzo Cipriano, Giuseppina Miele, Andrea Di Pietro, Simona Bonavita, and Lorenzo Ugga

Subjects
Pediatrics, medicine.medical_specialty, Spastic gait, business.industry, medicine.disease, Hydranencephaly, Hypoplasia, medicine.anatomical_structure, Cerebrospinal fluid, Neurology, Posterior cranial fossa, medicine, Sphincter, Neurology (clinical), Brainstem, business, Neonatal stage
Abstract

Background and aims: Hydranencephaly is a rare post-neurulation disorder characterized by the extensive hemispheric destruction with preservation of diencephalic and posterior cranial fossa structures. Brain matter is mostly replaced with a membranous sac filled with cerebrospinal fluid. Methods: A 32-year-old woman came to our attention for general assessment. She had a previous diagnosis of microencephaly of unknown origin. She was born at term. Her mother referred a severe psychomotor delay: she walked at 36 months after intensive fisiokinesitherapy and has never developed sphincter control and any form of speech. At neurological evaluation, she was able to walk with assistance, showing spastic gait. She was regularly fed by her mother. She opened her eyes spontaneously and turned her face in response to sounds. No meaningful actions were observed. She emitted only incomprehensible vocalization. Results: Comparative Genomic Hybridization did not reveal any chromosomal abnormalities. Electroencephalogram showed low amplitude and slowed activity. Brain MRI documented a severe telencephalic hypoplasia and cortical malformation with relative sparring of diencephalon and posterior fossa structures, consistent with the diagnosis of hydranencephaly. She died three months later, at the age of 32 years and 8 months, because of Sars-Cov19 pneumonia. Conclusions: Life expectancy in patients with hydranencephaly is very reduced. Most patients do not survive beyond the neonatal stage, nevertheless, some have been rarely diagnosed into adulthood. In these surviving cases, preserved brainstem regions maintain vital functions. Here we reported the case of one of the most long-lived patients affected by hydrancephalia with a surprising walking ability.

Published
2021
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5. Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: A causative mutation?

Author

Marco Calabrò, Rosalia D'Angelo, Mario Fratta, Concetta Scimone, Antonina Sidoti, and Carla Schettino

Subjects
Adult, Male, Hemangioma, Cavernous, Central Nervous System, RNA Splicing, Gene mutation, Biology, Real-Time Polymerase Chain Reaction, medicine.disease_cause, Polymerase Chain Reaction, White People, Frameshift mutation, Exon, Epilepsy, Genetics, medicine, Humans, RNA, Messenger, Sequence Deletion, Mutation, Reverse Transcriptase Polymerase Chain Reaction, Exons, Sequence Analysis, DNA, General Medicine, Middle Aged, medicine.disease, Penetrance, Stop codon, Cerebral cavernous malformations Epilepsy Real-time RT-PCR mRNA decay Haploinsufficiency Two-hit model, Pedigree, Phenotype, Gene Expression Regulation, Italy, Female, Carrier Proteins, Haploinsufficiency, Polymorphism, Restriction Fragment Length
Abstract

Cerebral cavernous malformations (CCMs; OMIM 116860) are vascular anomalies mostly located in the central nervous system (CNS) and occasionally within the skin and retina. Main clinical manifestations are seizure, hemorrhage, recurrent headaches, focal neurological deficits and epileptic attacks. The CCMs can occur as sporadic or autosomal dominant conditions, although with incomplete penetrance and variable clinical expression. Familial CCMs were associated with causative mutations in the CCM1 [K-Rev interaction trapped 1 (KRIT1)], CCM2 (MGC4607) and CCM3 (PDCD10) genes. This study reports the identification of a previously undescribed deletion mutation in CCM2 gene exon 5, in an Italian family with multiple cerebral cavernous malformations and epilepsy. Mutation c.502_503delAG results in a frame shift causing a TGA stop codon. This truncates the mutant CCM2 gene protein, the malcavernin, to 233 amino acids, respect to 444 amino acids of the wild-type malcavernin. By using real-time RT-PCR, we have found that the mRNA resulting from two nucleotides deletion showed a 70% reduction relative to the wild-type transcript, indicating that it may be subject to a degradation mechanism such as nonsense-mediated decay (NMD).

Published
2013
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6. Calreticulin mutation in a case of myopathy

Author

D. De Lucia, Mario Fratta, R. Di Francia, Simone Sampaolo, Francesca Rossi, S. Casertano, G. Di Iorio, and Luca Lombardi

Subjects
Neurology, biology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), biology.protein, medicine, Neurology (clinical), medicine.symptom, Myopathy, Calreticulin, Molecular biology, Genetics (clinical)
Published
2017
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