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2. Effectiveness of Ocrelizumab in Primary Progressive Multiple Sclerosis: a Multicenter, Retrospective, Real-world Study (OPPORTUNITY)

Author

Chisari, Clara G., Bianco, Assunta, Brescia Morra, Vincenzo, Calabrese, Massimiliano, Capone, Fioravante, Cavalla, Paola, Chiavazza, Carlotta, Comi, Cristoforo, Danni, Maura, Filippi, Massimo, Iaffaldano, Pietro, Lanzillo, Roberta, Lo Fermo, Salvatore, Lucisano, Alessandra, Lugaresi, Alessandra, Lus, Giacomo, Marfia, Gerolama Alessandra, Marinelli, Fabiana, Mirabella, Massimiliano, Moiola, Lucia, Perin, Chiara, Realmuto, Sabrina, Toscano, Simona, Trojano, Maria, Vecchio, Domizia, and Patti, Francesco

Published
2023
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3. Disease‐Modifying Therapies and Coronavirus Disease 2019 Severity in Multiple Sclerosis

Author

Sormani, Maria P, De Rossi, Nicola, Schiavetti, Irene, Carmisciano, Luca, Cordioli, Cinzia, Moiola, Lucia, Radaelli, Marta, Immovilli, Paolo, Capobianco, Marco, Trojano, Maria, Zaratin, Paola, Tedeschi, Gioacchino, Comi, Giancarlo, Battaglia, Mario A, Patti, Francesco, Salvetti, Marco, Nozzolillo, Agostino, Bellacosa, Alessandra, Protti, Alessandra, Di Sapio, Alessia, Signori, Alessio, Petrone, Alfredo, Bisecco, Alvino, Iovino, Aniello, Dutto, Anna, Repice, Anna Maria, Conte, Antonella, Bertolotto, Antonio, Bosco, Antonio, Gallo, Antonio, Zito, Antonio, Sartori, Arianna, Giometto, Bruno, Tortorella, Carla, Antozzi, Carlo, Pozzilli, Carlo, Mancinelli, Chiara Rosa, Zanetta, Chiara, Cordano, Christian, Scandellari, Cinzia, Guaschino, Clara, Gasperini, Claudio, Solaro, Claudio, Fioretti, Cristina, Bezzini, Daiana, Marastoni, Damiano, Paolicelli, Damiano, Vecchio, Domizia, Landi, Doriana, Bucciantini, Elisabetta, Pedrazzoli, Elisabetta, Signoriello, Elisabetta, Sbragia, Elvira, Susani, Emanuela Laura, Curti, Erica, Milano, Eva, Marinelli, Fabiana, Camilli, Federico, Boneschi, Filippo Martinelli, Govone, Flora, Bovis, Francesca, Calabria, Francesca, Caleri, Francesca, Rinaldi, Francesca, Vitetta, Francesca, Corea, Francesco, Crescenzo, Francesco, Teatini, Francesco, Tabiadon, Giulietta, Granella, Franco, Boffa, Giacomo, Lus, Giacomo, Brichetto, Giampaolo, Maniscalco, Giorgia Teresa, Borriello, Giovanna, De Luca, Giovanna, Konrad, Giovanna, Vaula, Giovanna, Marfia, Girolama Alessandra, Mallucci, Giulia, Liberatore, Giuseppe, Salemi, Giuseppe, Miele, Giuseppina, Sibilia, Grazia, Pesci, Ilaria, Brambilla, Laura, Lopiano, Leonardo, Sinisi, Leonardo, Pasquali, Livia, Saraceno, Lorenzo, Chiveri, Luca, Mancinelli, Luca, and Grimaldi, Luigi ME

Subjects
Pneumonia & Influenza, Neurodegenerative, Clinical Research, Autoimmune Disease, Brain Disorders, Lung, Multiple Sclerosis, Pneumonia, Neurosciences, Neurological, Good Health and Well Being, Adolescent, Adult, Aged, Aged, 80 and over, Antibodies, Monoclonal, Humanized, COVID-19, Dimethyl Fumarate, Female, Fingolimod Hydrochloride, Hospitalization, Humans, Immunologic Factors, Immunosuppressive Agents, Intensive Care Units, Interferons, Male, Middle Aged, Mortality, Natalizumab, SARS-CoV-2, Severity of Illness Index, Young Adult, Musc-19 Study Group, Clinical Sciences, Neurology & Neurosurgery
Abstract

ObjectiveThis study was undertaken to assess the impact of immunosuppressive and immunomodulatory therapies on the severity of coronavirus disease 2019 (COVID-19) in people with multiple sclerosis (PwMS).MethodsWe retrospectively collected data of PwMS with suspected or confirmed COVID-19. All the patients had complete follow-up to death or recovery. Severe COVID-19 was defined by a 3-level variable: mild disease not requiring hospitalization versus pneumonia or hospitalization versus intensive care unit (ICU) admission or death. We evaluated baseline characteristics and MS therapies associated with severe COVID-19 by multivariate and propensity score (PS)-weighted ordinal logistic models. Sensitivity analyses were run to confirm the results.ResultsOf 844 PwMS with suspected (n = 565) or confirmed (n = 279) COVID-19, 13 (1.54%) died; 11 of them were in a progressive MS phase, and 8 were without any therapy. Thirty-eight (4.5%) were admitted to an ICU; 99 (11.7%) had radiologically documented pneumonia; 96 (11.4%) were hospitalized. After adjusting for region, age, sex, progressive MS course, Expanded Disability Status Scale, disease duration, body mass index, comorbidities, and recent methylprednisolone use, therapy with an anti-CD20 agent (ocrelizumab or rituximab) was significantly associated (odds ratio [OR] = 2.37, 95% confidence interval [CI] = 1.18-4.74, p = 0.015) with increased risk of severe COVID-19. Recent use (

Published
2021

4. A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility

Author

Sorosina, Melissa, Barizzone, Nadia, Clarelli, Ferdinando, Anand, Santosh, Lupoli, Sara, Salvi, Erika, Mangano, Eleonora, Bordoni, Roberta, Roostaei, Tina, Mascia, Elisabetta, Zuccalà, Miriam, Vecchio, Domizia, Cavalla, Paola, Santoro, Silvia, Ferrè, Laura, Zollo, Alen, Barlassina, Cristina, Cusi, Daniele, Martinelli, Vittorio, Comi, Giancarlo, Leone, Maurizio, Filippi, Massimo, Patsopoulos, Nikolaos A., De Jager, Philip L., De Bellis, Gianluca, Esposito, Federica, D’Alfonso, Sandra, and Martinelli Boneschi, Filippo

Published
2022
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5. Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

Author

Patsopoulos, Nikolaos A, Baranzini, Sergio E, Santaniello, Adam, Shoostari, Parisa, Cotsapas, Chris, Wong, Garrett, Beecham, Ashley H, James, Tojo, Replogle, Joseph, Vlachos, Ioannis S, McCabe, Cristin, Pers, Tune H, Brandes, Aaron, White, Charles, Keenan, Brendan, Cimpean, Maria, Winn, Phoebe, Panteliadis, Ioannis-Pavlos, Robbins, Allison, Andlauer, Till FM, Zarzycki, Onigiusz, Dubois, Bénédicte, Goris, An, Søndergaard, Helle Bach, Sellebjerg, Finn, Sorensen, Per Soelberg, Ullum, Henrik, Thørner, Lise Wegner, Saarela, Janna, Cournu-Rebeix, Isabelle, Damotte, Vincent, Fontaine, Bertrand, Guillot-Noel, Lena, Lathrop, Mark, Vukusic, Sandra, Berthele, Achim, Pongratz, Viola, Buck, Dorothea, Gasperi, Christiane, Graetz, Christiane, Grummel, Verena, Hemmer, Bernhard, Hoshi, Muni, Knier, Benjamin, Korn, Thomas, Lill, Christina M, Luessi, Felix, Mühlau, Mark, Zipp, Frauke, Dardiotis, Efthimios, Agliardi, Cristina, Amoroso, Antonio, Barizzone, Nadia, Benedetti, Maria D, Bernardinelli, Luisa, Cavalla, Paola, Clarelli, Ferdinando, Comi, Giancarlo, Cusi, Daniele, Esposito, Federica, Ferrè, Laura, Galimberti, Daniela, Guaschino, Clara, Leone, Maurizio A, Martinelli, Vittorio, Moiola, Lucia, Salvetti, Marco, Sorosina, Melissa, Vecchio, Domizia, Zauli, Andrea, Santoro, Silvia, Mancini, Nicasio, Zuccalà, Miriam, Mescheriakova, Julia, van Duijn, Cornelia, Bos, Steffan D, Celius, Elisabeth G, Spurkland, Anne, Comabella, Manuel, Montalban, Xavier, Alfredsson, Lars, Bomfim, Izaura L, Gomez-Cabrero, David, Hillert, Jan, Jagodic, Maja, Lindén, Magdalena, Piehl, Fredrik, Jelčić, Ilijas, Martin, Roland, Sospedra, Mirela, Baker, Amie, Ban, Maria, Hawkins, Clive, Hysi, Pirro, Kalra, Seema, Karpe, Fredrik, Khadake, Jyoti, Lachance, Genevieve, Molyneux, Paul, and Neville, Matthew

Subjects
Neurosciences, Brain Disorders, Multiple Sclerosis, Human Genome, Autoimmune Disease, Clinical Research, Genetics, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Neurological, Case-Control Studies, Cell Cycle Proteins, Chromosome Mapping, Chromosomes, Human, X, GTPase-Activating Proteins, Gene Frequency, Genetic Loci, Genome-Wide Association Study, Genomics, Humans, Inheritance Patterns, Major Histocompatibility Complex, Microglia, Polymorphism, Single Nucleotide, Quantitative Trait Loci, RNA-Seq, Transcriptome, International Multiple Sclerosis Genetics Consortium, General Science & Technology
Abstract

We analyzed genetic data of 47,429 multiple sclerosis (MS) and 68,374 control subjects and established a reference map of the genetic architecture of MS that includes 200 autosomal susceptibility variants outside the major histocompatibility complex (MHC), one chromosome X variant, and 32 variants within the extended MHC. We used an ensemble of methods to prioritize 551 putative susceptibility genes that implicate multiple innate and adaptive pathways distributed across the cellular components of the immune system. Using expression profiles from purified human microglia, we observed enrichment for MS genes in these brain-resident immune cells, suggesting that these may have a role in targeting an autoimmune process to the central nervous system, although MS is most likely initially triggered by perturbation of peripheral immune responses.

Published
2019

10. Gas6/TAM system as potential biomarker for multiple sclerosis prognosis

Author

D’Onghia, Davide, primary, Colangelo, Donato, additional, Bellan, Mattia, additional, Tonello, Stelvio, additional, Puricelli, Chiara, additional, Virgilio, Eleonora, additional, Apostolo, Daria, additional, Minisini, Rosalba, additional, Ferreira, Luciana L., additional, Sozzi, Leonardo, additional, Vincenzi, Federica, additional, Cantello, Roberto, additional, Comi, Cristoforo, additional, Pirisi, Mario, additional, Vecchio, Domizia, additional, and Sainaghi, Pier Paolo, additional

Published
2024
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12. Genomic and functional evaluation of TNFSF14 in multiple sclerosis susceptibility

Author

Zuccalà, Miriam, Barizzone, Nadia, Boggio, Elena, Gigliotti, Luca, Sorosina, Melissa, Basagni, Chiara, Bordoni, Roberta, Clarelli, Ferdinando, Anand, Santosh, Mangano, Eleonora, Vecchio, Domizia, Corsetti, Elena, Martire, Serena, Perga, Simona, Ferrante, Daniela, Gajofatto, Alberto, Ivashynka, Andrei, Solaro, Claudio, Cantello, Roberto, Martinelli, Vittorio, Comi, Giancarlo, Filippi, Massimo, Esposito, Federica, Leone, Maurizio, De Bellis, Gianluca, Dianzani, Umberto, Martinelli-Boneschi, Filippo, and D'Alfonso, Sandra

Published
2021
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13. The influence of smoking on the pattern of disability and relapse risk in AQP4-positive Neuromyelitis Optica Spectrum Disorder, MOG-Ab Disease and Multiple Sclerosis

Author

Messina, Silvia, Mariano, Romina, Geraldes, Ruth, Kim, Su-Hyun, Satukijcha, Chanjira, Vecchio, Domizia, Chua, Yi Yi, Taylor, James, George, Naveen, Cavey, Ana, Diaz, Alejandro Rubio, Reeve, Sandra, Everett, Rosie, De Luca, Gabriele, Leite, Maria Isabel, Kim, Ho Jin, and Palace, Jacqueline

Published
2021
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18. Correction to: A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility

Author

Sorosina, Melissa, Barizzone, Nadia, Clarelli, Ferdinando, Anand, Santosh, Lupoli, Sara, Salvi, Erika, Mangano, Eleonora, Bordoni, Roberta, Roostaei, Tina, Mascia, Elisabetta, Zuccalà, Miriam, Vecchio, Domizia, Cavalla, Paola, Santoro, Silvia, Ferrè, Laura, Zollo, Alen, Barlassina, Cristina, Cusi, Daniele, Martinelli, Vittorio, Comi, Giancarlo, Leone, Maurizio, Filippi, Massimo, Patsopoulos, Nikolaos A., De Jager, Philip L., De Bellis, Gianluca, Esposito, Federica, D’Alfonso, Sandra, and Martinelli Boneschi, Filippo

Published
2022
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19. COVID-19 Severity in Multiple Sclerosis: Putting Data Into Context

Author

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

Published
2022
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20. Polymorphisms in the Dopaminergic Receptor D3 Gene Correlate with Disease Progression Rate in Relapsing–Remitting Multiple Sclerosis Patients.

Author

Ferrari, Marco, Vecchio, Domizia, D'Alfonso, Sandra, Gemma, Alessandra, Marino, Franca, Comi, Cristoforo, and Cosentino, Marco

Subjects
*DOPAMINE receptors, *DOPAMINE, *GENETIC polymorphisms, *MULTIPLE sclerosis, *SINGLE nucleotide polymorphisms, *DISEASE progression, *CENTRAL nervous system diseases
Abstract

Background: Multiple sclerosis (MS) is a common chronic autoimmune disease of the central nervous system. In MS, disability progresses unpredictably. Dopamine (DA) is a modulator of immune functions, and compelling evidence supports its involvement in both pathogenesis and treatment of MS. Although single nucleotide polymorphisms (SNPs) in dopaminergic receptor (DR) genes have been extensively studied, their role in MS progression remains unexplored. Therefore, the aim of this explorative study is to investigate the potential association between functional SNPs in DR genes and MS progression. Methods: Caucasian patients with relapsing–remitting (RR) MS were enrolled, and disease progression assessed by the Multiple Sclerosis Severity Score (MSSS). Results: Out of the 59 RRMS patients enrolled, those with the G/G genotype for rs6280 and rs1800828 SNPs in DRD3 showed significantly higher MSSSs compared to those with ancestral and heterozygous genotypes. Conclusions: If confirmed in a larger prospective study, the reported findings could contribute to a better understanding of MS pathophysiological mechanisms, opening the way for the identification of marker(s) for assessing MS progression as well as novel therapeutic strategies. A personalized approach to MS management has the potential to improve the overall well-being of MS patients and alleviate the burden on their caregivers. [ABSTRACT FROM AUTHOR]

Published
2024
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21. The Role of Diet in Multiple Sclerosis Onset: A Prospective Study Using UK Biobank.

Author

Barbero Mazzucca, Camilla, Scotti, Lorenza, Comi, Cristoforo, Vecchio, Domizia, Chiocchetti, Annalisa, and Cappellano, Giuseppe

Abstract

Multiple sclerosis (MS) is a debilitating autoimmune condition primarily affecting young adults, and its rise is evident globally. Despite this, its precise etiology remains elusive. Both genetic and environmental factors contribute to MS susceptibility; however, the link between diet and MS lacks substantial evidence due to limited large-scale studies. We exploited the UK Biobank resources to explore the nexus between diet, lifestyle, and MS risk. The dietary and lifestyle habits of MS incident cases, derived from a general food frequency questionnaire (FFQ) completed by all participants at study enrollment, were compared to those of subjects who did not develop MS during the follow-up. Our findings suggest the protective role of moderate oily fish consumption and weekly alcohol intake. Furthermore, by analyzing food intake data obtained through 24 h recall, completed by a subset of participants, we found a protective, though non-significant, trend of an increased adherence to the Mediterranean diet (MD). These findings, derived from the analysis of the UK Biobank and representing an unprecedented approach for this inquiry, warrant further exploration and integration in future research. [ABSTRACT FROM AUTHOR]

Published
2024
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22. Gas6/TAM system as potential biomarker for multiple sclerosis prognosis.

Author

D'Onghia, Davide, Colangelo, Donato, Bellan, Mattia, Tonello, Stelvio, Puricelli, Chiara, Virgilio, Eleonora, Apostolo, Daria, Minisini, Rosalba, Ferreira, Luciana L., Sozzi, Leonardo, Vincenzi, Federica, Cantello, Roberto, Comi, Cristoforo, Pirisi, Mario, Vecchio, Domizia, and Sainaghi, Pier Paolo

Subjects
CENTRAL nervous system viral diseases, MULTIPLE sclerosis, PROGNOSIS, CENTRAL nervous system diseases, DEMYELINATION, BIOMARKERS
Abstract

Introduction: The protein growth arrest-specific 6 (Gas6) and its tyrosine kinase receptors Tyro-3, Axl, and Mer (TAM) are ubiquitous proteins involved in regulating inflammation and apoptotic body clearance. Multiple sclerosis (MS) is the most common inflammatory demyelinating disease of the central nervous system leading to progressive and irreversible disability if not diagnosed and treated promptly. Gas6 and TAM receptors have been associated with neuronal remyelination and stimulation of oligodendrocyte survival. However, few data are available regarding clinical correlation in MS patients. We aimed to evaluate soluble levels of these molecules in the cerebrospinal fluid (CSF) and serum at MS diagnosis and correlate them with short-term disease severity. Methods: In a prospective cohort study, we enrolled 64 patients with a diagnosis of clinical isolated syndrome (CIS), radiological isolated syndrome (RIS) and relapsing-remitting (RR) MS according to the McDonald 2017 Criteria. Before any treatment initiation, we sampled the serum and CSF, and collected clinical data: disease course, presence of gadolinium-enhancing lesions, and expanded disability status score (EDSS). At the last clinical follow-up, we assessed EDSS and calculated MS severity score (MSSS) and age-related MS severity (ARMSS). Gas6 and TAM receptors were determined using an ELISA kit (R&D Systems) and compared to neurofilament (NFLs) levels evaluated with SimplePlex™ fluorescence-based immunoassay. Results: At diagnosis, serum sAxl was higher in patients receiving none or lowefficacy disease-modifying treatments (DMTs) versus patients with high-efficacy DMTs (p = 0.04). Higher CSF Gas6 and serum sAXL were associated with an EDSS <3 at diagnosis (p = 0.04; p = 0.037). Serum Gas6 correlates to a lower MSSS (r² = -0.32,p = 0.01). Serumand CSF NFLs were confirmed as disability biomarkers in our cohort according to EDSS (p = 0.005; p = 0.002) and MSSS (r² = 0.27, p = 0.03; r² = 0.39, p = 0.001). Results were corroborated using multivariate analysis. Conclusions: Our data suggest a protective role of Gas6 and its receptors in patients with MS and suitable severity disease biomarkers. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Diagnostic value of kappa free light chain index in patients with primary progressive multiple sclerosis – a multicentre study

Author

Hegen, Harald, primary, Berek, Klaus, additional, Cavalla, Paola, additional, Christiansen, Mikael, additional, Emeršič, Andreja, additional, Di Filippo, Massimiliano, additional, Gaetani, Lorenzo, additional, Hassler, Michaela, additional, Leurs, Cyra, additional, Milosavljevic, Dejan, additional, van Pesch, Vincent, additional, Petersen, Thor, additional, Presslauer, Stefan, additional, Rosenstein, Igal, additional, Rot, Uroš, additional, Schnabl, Christine, additional, Teunissen, Charlotte, additional, Vecchio, Domizia, additional, Vercellino, Marco, additional, and Deisenhammer, Florian, additional

Published
2023
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26. Effectiveness of Ocrelizumab in Primary PrOgRessive mulTiple sclerosis: a mUlticeNter, retrospective, real-world sTudY (OPPORTUNITY)

Author

Grazia, Clara, primary, Bianco, Assunta, additional, Morra, Vincenzo Brescia, additional, Calabrese, Massimiliano, additional, Capone, Fioravante, additional, Cavalla, Paola, additional, Comi, Cristoforo, additional, Danni, Maura Chiara, additional, Filippi, Massimo, additional, Iaffaldano, Pietro, additional, Lanzillo, Roberta, additional, Fermo, Salvatore Lo, additional, Lucisano, Alessandra, additional, Lus, Giacomo, additional, Marfia, Gerolama Alessandra, additional, Marinelli, Fabiana, additional, Mirabella, Massimiliano, additional, Perin, Chiara, additional, Moiola, Lucia, additional, Realmuto, Sabrina, additional, Toscano, Simona, additional, Trojano, Maria, additional, Vecchio, Domizia, additional, and Patti, Francesco, additional

Published
2023
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27. Effectiveness of Ocrelizumab in Primary Progressive Multiple Sclerosis: a Multicenter, Retrospective, Real-world Study (OPPORTUNITY)

Author

Chisari, Clara G, Bianco, Assunta, Brescia Morra, Vincenzo, Calabrese, Massimiliano, Capone, Fioravante, Cavalla, Paola, Chiavazza, Carlotta, Comi, Cristoforo, Danni, Maura, Filippi, Massimo, Iaffaldano, Pietro, Lanzillo, Roberta, Lo Fermo, Salvatore, Lucisano, Alessandra, Lugaresi, Alessandra, Lus, Giacomo, Marfia, Gerolama Alessandra, Marinelli, Fabiana, Mirabella, Massimiliano, Moiola, Lucia, Perin, Chiara, Realmuto, Sabrina, Toscano, Simona, Trojano, Maria, Vecchio, Domizia, Patti, Francesco, Mirabella, Massimiliano (ORCID:0000-0002-7783-114X), Chisari, Clara G, Bianco, Assunta, Brescia Morra, Vincenzo, Calabrese, Massimiliano, Capone, Fioravante, Cavalla, Paola, Chiavazza, Carlotta, Comi, Cristoforo, Danni, Maura, Filippi, Massimo, Iaffaldano, Pietro, Lanzillo, Roberta, Lo Fermo, Salvatore, Lucisano, Alessandra, Lugaresi, Alessandra, Lus, Giacomo, Marfia, Gerolama Alessandra, Marinelli, Fabiana, Mirabella, Massimiliano, Moiola, Lucia, Perin, Chiara, Realmuto, Sabrina, Toscano, Simona, Trojano, Maria, Vecchio, Domizia, Patti, Francesco, and Mirabella, Massimiliano (ORCID:0000-0002-7783-114X)

Abstract

Ocrelizumab is a recombinant humanized monoclonal antibody selectively targeting CD20-expressing B cells. The effect of ocrelizumab on primary progressive multiple sclerosis (PPMS) has been evaluated during phase 3 trials that enrolled patients under 55 years with a maximum Expanded Disability Status Scale (EDSS) of 6.5. However, little is known on older disabled patients with longer disease duration. We aimed to assess the clinical effectiveness of ocrelizumab in PPMS patients out of the ORATORIO eligibility criteria. This multicenter retrospective study collected data about the effectiveness of ocrelizumab in PPMS patients who received treatment between May 2017 and June 2022 in the Italian MS centers contributing to the Italian MS Registry who adhered to the Compassionate Use Program. The confirmed EDSS worsening (CEW) (defined as either a ≥ 1-point or ≥ 2-point increase in EDSS score from baseline that was confirmed at T12 and T24) was calculated. At the date of data extraction, out of 887 PPMS patients who had received ocrelizumab, 589 (mean age 49.7 ± 10.7 years, 242 (41.1%) females) were enrolled. The mean follow-up period was 41.3 ± 12.3 months. A total of 149 (25.3%) received ocrelizumab according to the ORATORIO criteria (ORATORIO group) and 440 (74.7%) outside the ORATORIO criteria (non-ORATORIO group). No differences in terms of cumulative probabilities of 12 and 24 months of CEW of ≤ 1 point were found between ORATORIO and non-ORATORIO groups. Cox regression analyses showed that age older than 65 years (HR 2.51, 25% CI 1.07-3.65; p = 0.01) was associated with higher risk of CEW at 24 months. Patients not responding to ORATORIO criteria for reimbursability may benefit from ocrelizumab treatment, as disease activity, disease duration, and EDSS seem to not impact the disability outcome. Our results may suggest to extend the possible use of this powerful agent in selected patients under the age of 65 years.

Published
2023

31. Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry

Author

Holt, James, Pritchard, Jane, Wall, Jasmine, Gamez, Josep, Oktay, YAVUZ, Macken, William L, Nesbitt, Victoria, Sansone, Valeria, Evangelista, Teresinha, Watson-Fargie, Taylor, Keddie, Stephen, Ramaratnam, Sridharan, Desai, Soaham, Yareeda, Sireesha, Rinaldi, Simon, Raga, Sharika, Menon R, Sarath, Sasidharan, Sandhya, Neshuku, Saara, Keh, Ryan, Geraldes, Ruth, Paterson, Ross W, Nortley, Ross, McFarland, Robert, Horvath, Rita, Thomas, Rhys H, Mehta, Puja R, Ambrose, Philip, Chinnery, Patrick F, Price, Olivia, Musumeci, Olimpia, Janssen, Mirian, Mancuso, Michelangelo, Dhamne, Megha, Zosmer, Maya, Ciocca, Matteo, Laura, Matilde, Skorupinska, Mariola, Househam, Liz, Clayton, Lisa, Saavedra, Lillian, Brennan, Kathryn, Wannop, Kate, Shakthi, K J S, Pizzamiglio, Chiara, Pitceathly, Robert D S, Lunn, Michael P, Brady, Stefen, De Marchi, Fabiola, Galan, Lucia, Heckmann, Jeannine M, Horga, Alejandro, Molnar, Maria J, Oliveira, Acary S B, Pinto, Wladimir B V R, Primiano, Guido, Santos, Ernestina, Schoser, Benedikt, Servidei, Serenella, Sgobbi Souza, Paulo V, Venugopalan, Vishnu, Hanna, Michael G, Dimachkie, Mazen M, Machado, Pedro M, Lim, Albert, Elsaddig, Amar, Juanatey, Ana, Romeiro, Ana, Themistocleous, Andreas, Kiss-Csenki, Annamaria, Guerrero Sola, Antonio, Patil, Anuja, Duggal, Ashish, Gabriel, Carolyn, Marshall, Charles, Record, Christopher, Allen, Claire, Bearden, David, Rathna Sabapathi, DeviPriya, R, Dileep, Vecchio, Domizia, Newman, Edward, Eshun, Edwin, Foo, Eng C, Bugiardini, Enrico, Burke, Georgina, Ramdharry, Gita, Gorman, Gràinne S, Kumar, Guru, Sivasathiaseelan, Harri, Braga Farias, Igor, Smuts, Izelle, and Groothuis, Jan T

Subjects
Male, Oxygen, Neurology, SARS-CoV-2, Humans, COVID-19, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Female, Neuromuscular Diseases, Registries, Neurology (clinical), Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]
Abstract

Contains fulltext : 291815.pdf (Publisher’s version ) (Open Access) BACKGROUND AND PURPOSE: Clinical outcome information on patients with neuromuscular diseases (NMDs) who have been infected with SARS-CoV-2 is limited. The aim of this study was to determine factors associated with the severity of COVID-19 outcomes in people with NMDs. METHODS: Cases of NMD, of any age, and confirmed/presumptive COVID-19, submitted to the International Neuromuscular COVID-19 Registry up to 31 December 2021, were included. A mutually exclusive ordinal COVID-19 severity scale was defined as follows: (1) no hospitalization; (2) hospitalization without oxygenation; (3) hospitalization with ventilation/oxygenation; and (4) death. Multivariable ordinal logistic regression analyses were used to estimate odds ratios (ORs) for severe outcome, adjusting for age, sex, race/ethnicity, NMD, comorbidities, baseline functional status (modified Rankin scale [mRS]), use of immunosuppressive/immunomodulatory medication, and pandemic calendar period. RESULTS: Of 315 patients from 13 countries (mean age 50.3 [±17.7] years, 154 [48.9%] female), 175 (55.5%) were not hospitalized, 27 (8.6%) were hospitalized without supplemental oxygen, 91 (28.9%) were hospitalized with ventilation/supplemental oxygen, and 22 (7%) died. Higher odds of severe COVID-19 outcomes were observed for: age ≥50 years (50-64 years: OR 2.4, 95% confidence interval [CI] 1.33-4.31; >64 years: OR 4.16, 95% CI 2.12-8.15; both vs.

Published
2023
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38. sj-docx-1-msj-10.1177_13524585211064121 ��� Supplemental material for The contribute of cerebrospinal fluid free light-chain assay in the diagnosis of multiple sclerosis and other neurological diseases in an Italian multicenter study

Author

Bernardi, Gaetano, Biagioli, Tiziana, Malpassi, Paola, De Michele, Teresa, Vecchio, Domizia, Repice, Anna Maria, Lugaresi, Alessandra, Mirabella, Massimiliano, Torri Clerici, Valentina, and Crespi, Ilaria

Subjects
FOS: Clinical medicine, 111702 Aged Health Care, FOS: Health sciences, 110904 Neurology and Neuromuscular Diseases
Abstract

Supplemental material, sj-docx-1-msj-10.1177_13524585211064121 for The contribute of cerebrospinal fluid free light-chain assay in the diagnosis of multiple sclerosis and other neurological diseases in an Italian multicenter study by Gaetano Bernardi, Tiziana Biagioli, Paola Malpassi, Teresa De Michele, Domizia Vecchio, Anna Maria Repice, Alessandra Lugaresi, Massimiliano Mirabella, Valentina Torri Clerici and Ilaria Crespi in Multiple Sclerosis Journal

Published
2022
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39. sj-pdf-1-msj-10.1177_13524585211064121 ��� Supplemental material for The contribute of cerebrospinal fluid free light-chain assay in the diagnosis of multiple sclerosis and other neurological diseases in an Italian multicenter study

Author

Bernardi, Gaetano, Biagioli, Tiziana, Malpassi, Paola, De Michele, Teresa, Vecchio, Domizia, Repice, Anna Maria, Lugaresi, Alessandra, Mirabella, Massimiliano, Torri Clerici, Valentina, and Crespi, Ilaria

Subjects
FOS: Clinical medicine, 111702 Aged Health Care, FOS: Health sciences, 110904 Neurology and Neuromuscular Diseases
Abstract

Supplemental material, sj-pdf-1-msj-10.1177_13524585211064121 for The contribute of cerebrospinal fluid free light-chain assay in the diagnosis of multiple sclerosis and other neurological diseases in an Italian multicenter study by Gaetano Bernardi, Tiziana Biagioli, Paola Malpassi, Teresa De Michele, Domizia Vecchio, Anna Maria Repice, Alessandra Lugaresi, Massimiliano Mirabella, Valentina Torri Clerici and Ilaria Crespi in Multiple Sclerosis Journal

Published
2022
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46. The contribute of cerebrospinal fluid free light-chain assay in the diagnosis of multiple sclerosis and other neurological diseases in an Italian multicenter study

Author

Bernardi, Gaetano, primary, Biagioli, Tiziana, additional, Malpassi, Paola, additional, De Michele, Teresa, additional, Vecchio, Domizia, additional, Repice, Anna Maria, additional, Lugaresi, Alessandra, additional, Mirabella, Massimiliano, additional, Torri Clerici, Valentina, additional, and Crespi, Ilaria, additional

Published
2021
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48. An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients

Author

Barizzone, Nadia, primary, Cagliani, Rachele, additional, Basagni, Chiara, additional, Clarelli, Ferdinando, additional, Mendozzi, Laura, additional, Agliardi, Cristina, additional, Forni, Diego, additional, Tosi, Martina, additional, Mascia, Elisabetta, additional, Favero, Francesco, additional, Corà, Davide, additional, Corrado, Lucia, additional, Sorosina, Melissa, additional, Esposito, Federica, additional, Zuccalà, Miriam, additional, Vecchio, Domizia, additional, Liguori, Maria, additional, Comi, Cristoforo, additional, Comi, Giancarlo, additional, Martinelli, Vittorio, additional, Filippi, Massimo, additional, Leone, Maurizio, additional, Martinelli-Boneschi, Filippo, additional, Caputo, Domenico, additional, Sironi, Manuela, additional, Guerini, Franca Rosa, additional, and D’Alfonso, Sandra, additional

Published
2021
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50. SARS-CoV-2 serology after COVID-19 in multiple sclerosis: An international cohort study

Author

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

Published
2021
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