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24 results on '"Arena, Alessia"'

10. Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals

Author

Ricci, Emilia, Fetta, Anna, Garavelli, Livia, Caraffi, Stefano, Ivanovski, Ivan, Bonanni, Paolo, Accorsi, Patrizia, Giordano, Lucio, Pantaleoni, Chiara, Romeo, Antonino, Arena, Alessia, Bonetti, Silvia, Boni, Antonella, Chiarello, Daniela, Di Pisa, Veronica, Epifanio, Roberta, Faravelli, Francesca, Finardi, Erica, Fiumara, Agata, Grioni, Daniele, Mammi, Isabella, Negrin, Susanna, Osanni, Elisa, Raviglione, Federico, Rivieri, Francesca, Rizzi, Romana, Savasta, Salvatore, Tarani, Luigi, Zanotta, Nicoletta, Dormi, Ada, Vignoli, Aglaia, Canevini, Mariapaola, and Cordelli, Duccio M.

Published
2021
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12. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author

Li, Dong, primary, Wang, Qin, additional, Bayat, Allan, additional, Battig, Mark R., additional, Zhou, Yijing, additional, Bosch, Daniëlle G.M., additional, van Haaften, Gijs, additional, Granger, Leslie, additional, Petersen, Andrea K., additional, Pérez-Jurado, Luis A., additional, Aznar-Laín, Gemma, additional, Aneja, Anushree, additional, Hancarova, Miroslava, additional, Bendova, Sarka, additional, Schwarz, Martin, additional, Kremlíková Pourová, Radka, additional, Sedlacek, Zdenek, additional, Keena, Beth A., additional, March, Michael E., additional, Hou, Cuiping, additional, O'Connor, Nora, additional, Bhoj, Elizabeth J., additional, Harr, Margaret H., additional, Lemire, Gabrielle, additional, Boycott, Kym M., additional, Towne, Meghan C., additional, Li, Megan, additional, Tarnopolsky, Mark, additional, Brady, Lauren, additional, Parker, Michael J., additional, Faghfoury, Hanna, additional, Parsley, Lea Kristin, additional, Agolini, Emanuele, additional, Dentici, Maria Lisa, additional, Novelli, Antonio, additional, Wright, Meredith S., additional, Palmquist, Rachel, additional, Lai, Khanh, additional, Scala, Marcello, additional, Striano, Pasquale, additional, Iacomino, Michele, additional, Zara, Federico, additional, Cooper, Annina, additional, Maarup, Timothy J., additional, Byler, Melissa, additional, Lebel, Robert Roger, additional, Balci, Tugce B., additional, Louie, Raymond J., additional, Lyons, Michael J., additional, Douglas, Jessica, additional, Nowak, Catherine B., additional, Afenjar, Alexandra, additional, Hoyer, Juliane, additional, Keren, Boris, additional, Maas, Saskia M., additional, Motazacker, Mahdi M., additional, Martinez-Agosto, Julian A., additional, Rabani, Ahna M., additional, McCormick, Elizabeth M., additional, Falk, Marni, additional, Ruggiero, Sarah M., additional, Helbig, Ingo, additional, Møller, Rikke S., additional, Tessarollo, Lino, additional, Tomassoni-Ardori, Francesco, additional, Palko, Mary Ellen, additional, Hsieh, Tzung-Chien, additional, Krawitz, Peter M., additional, Ganapathi, Mythily, additional, Gelb, Bruce D., additional, Jobanputra, Vaidehi, additional, Wilson, Ashley, additional, Greally, John, additional, Jacquemont, Sébastien, additional, Jizi, Khadijé, additional, Ange-Line, Bruel, additional, Quelin, Chloé, additional, Misra, Vinod K., additional, Chick, Erika, additional, Romano, Corrado, additional, Greco, Donatella, additional, Arena, Alessia, additional, Morleo, Manuela, additional, Nigro, Vincenzo, additional, Seyama, Rie, additional, Uchiyama, Yuri, additional, Matsumoto, Naomichi, additional, Taira, Ryoji, additional, Tashiro, Katsuya, additional, Sakai, Yasunari, additional, Yigit, Gökhan, additional, Wollnik, Bernd, additional, Wagner, Michael, additional, Kutsche, Barbara, additional, Hurst, Anna C.E., additional, Thompson, Michelle L., additional, Schmidt, Ryan J., additional, Randolph, Linda M., additional, Spillmann, Rebecca C., additional, Shashi, Vandana, additional, Higginbotham, Edward J., additional, Cordeiro, Dawn, additional, Carnevale, Amanda, additional, Costain, Gregory, additional, Khan, Tayyaba, additional, Funalot, Benoît, additional, Tran Mau-Them, Frederic, additional, Fernandez Garcia Moya, Luis, additional, García-Miñaúr, Sixto, additional, Osmond, Matthew, additional, Chad, Lauren, additional, Quercia, Nada, additional, Carrasco, Diana, additional, Li, Chumei, additional, Sanchez-Valle, Amarilis, additional, Kelley, Meghan, additional, Nizon, Mathilde, additional, Jensson, Brynjar O., additional, Sulem, Patrick, additional, Stefansson, Kari, additional, Gorokhova, Svetlana, additional, Busa, Tiffany, additional, Rio, Marlène, additional, Hadj Abdallah, Hamza, additional, Lesieur-Sebellin, Marion, additional, Amiel, Jeanne, additional, Pingault, Véronique, additional, Mercier, Sandra, additional, Vincent, Marie, additional, Philippe, Christophe, additional, Fatus-Fauconnier, Clemence, additional, Friend, Kathryn, additional, Halligan, Rebecca K., additional, Biswas, Sunita, additional, Rosser, Jane M.R., additional, Shoubridge, Cheryl, additional, Corbett, Mark A., additional, Barnett, Christopher, additional, Gecz, Jozef, additional, Leppig, Kathleen A., additional, Slavotinek, Anne, additional, Marcelis, Carlo, additional, Pfundt, Rolph, additional, de Vries, Bert B.A., additional, van Slegtenhorst, Marjon A., additional, Brooks, Alice S., additional, Cogne, Benjamin, additional, Rambaud, Thomas, additional, Tümer, Zeynep, additional, Zackai, Elaine H., additional, Akizu, Naiara, additional, Song, Yuanquan, additional, and Hakonarson, Hakon, additional

Published
2023
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19. Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion

Author

Lo Bianco, Manuela, primary, Vecchio, Davide, additional, Timpanaro, Tiziana A., additional, Arena, Alessia, additional, Macchiaiolo, Marina, additional, Bartuli, Andrea, additional, Sciuto, Laura, additional, Presti, Santiago, additional, Sciuto, Sarah, additional, Sapuppo, Annamaria, additional, Fiumara, Agata, additional, Marino, Lidia, additional, Messina, Giulia, additional, and Pavone, Piero, additional

Published
2020
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22. Magnetic fields exposure from high-voltage power lines and risk of amyotrophic lateral sclerosis in two Italian populations

Author

Vinceti, Marco, primary, Malagoli, Carlotta, additional, Fabbi, Sara, additional, Kheifets, Leeka, additional, Violi, Federica, additional, Poli, Maurizio, additional, Caldara, Salvatore, additional, Sesti, Daniela, additional, Violanti, Silvia, additional, Zanichelli, Paolo, additional, Notari, Barbara, additional, Fava, Roberto, additional, Arena, Alessia, additional, Calzolari, Roberta, additional, Filippini, Tommaso, additional, Iacuzio, Laura, additional, Arcolin, Elisa, additional, Mandrioli, Jessica, additional, Fini, Nicola, additional, Odone, Anna, additional, Signorelli, Carlo, additional, Patti, Francesco, additional, Zappia, Mario, additional, Pietrini, Vladimiro, additional, Oleari, Paola, additional, Teggi, Sergio, additional, Ghermandi, Grazia, additional, Dimartino, Angela, additional, Ledda, Caterina, additional, Mauceri, Cristina, additional, Sciacca, Salvatore, additional, Fiore, Maria, additional, and Ferrante, Margherita, additional

Published
2017
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23. Magnetic fields exposure from high-voltage power lines and risk of amyotrophic lateral sclerosis in two Italian populations

Author

Alessia Arena, Grazia Ghermandi, Daniela Sesti, P Zanichelli, Carlo Signorelli, Marco Vinceti, Vladimiro Pietrini, Silvia Violanti, Leeka Kheifets, Sara Fabbi, Federica Violi, Francesco Patti, Mario Zappia, Salvatore Sciacca, Nicola Fini, Margherita Ferrante, Cristina Mauceri, Anna Odone, A Dimartino, Elisa Arcolin, Caterina Ledda, Roberto Fava, S. Caldara, Carlotta Malagoli, Jessica Mandrioli, Tommaso Filippini, Paola Oleari, Maria Fiore, Laura Iacuzio, B Notari, Sergio Teggi, R. Calzolari, Maurizio Poli, Vinceti, Marco, Malagoli, Carlotta, Fabbi, Sara, Kheifets, Leeka, Violi, Federica, Poli, Maurizio, Caldara, Salvatore, Sesti, Daniela, Violanti, Silvia, Zanichelli, Paolo, Notari, Barbara, Fava, Roberto, Arena, Alessia, Calzolari, Roberta, Filippini, Tommaso, Iacuzio, Laura, Arcolin, Elisa, Mandrioli, Jessica, Fini, Nicola, Odone, Anna, Signorelli, Carlo, Patti, Francesco, Zappia, Mario, Pietrini, Vladimiro, Oleari, Paola, Teggi, Sergio, Ghermandi, Grazia, Dimartino, Angela, Ledda, Caterina, Mauceri, Cristina, Sciacca, Salvatore, Fiore, Maria, and Ferrante, Margherita

Subjects
Male, Amyotrophic lateral sclerosis, case-control study, electromagnetic fields, epidemiology, power lines, risk, Neurology, Neurology (clinical), Pathology, Disease, 0302 clinical medicine, Electricity, Risk Factors, Epidemiology, Prevalence, Medicine, 030212 general & internal medicine, Unmeasured confounding, Aged, 80 and over, education.field_of_study, Middle Aged, Radiation Exposure, power line, Italy, Female, High voltage power lines, medicine.medical_specialty, Population, Radiation Dosage, 03 medical and health sciences, Age Distribution, electromagnetic field, Humans, Sex Distribution, Radiation Injuries, education, Amyotrophic lateral sclerosi, Aged, business.industry, Amyotrophic Lateral Sclerosis, Case-control study, Amyotrophic lateral sclerosis, electromagnetic fields, case-control study, epidemiology, risk, power lines, medicine.disease, Magnetic Fields, Etiology, business, 030217 neurology & neurosurgery, Demography
Abstract

The aetiology of amyotrophic lateral sclerosis (ALS), a rare and extremely severe neurodegenerative disease, has been associated with magnetic fields exposure. However, evidence for such a relation in the general population is weak, although the previous null results might also be due to exposure misclassification, or a relationship might exist only for selected subgroups. To test such a hypothesis we carried out a population-based case-control study in two Northern and Southern Italy regions, including 703 ALS cases newly diagnosed from 1998 to 2011 and 2737 controls randomly selected from the residents in the study provinces. Overall, we found that a residence near high-voltage power lines, within the corridors yielding a magnetic fields of ≥0.1 μT, was not associated with an excess disease risk, nor did we identify a dose-response relationship after splitting the exposed corridor according to the 0.1, 0.2 and 0.4 μT cut-points of exposure. These results were confirmed taking into account age at onset, period of diagnosis, sex, geographical area, and length of exposure. Overall, despite the residual possibility of unmeasured confounding or small susceptible subgroups not identified in our study, these results appear to confirm that the exposure to magnetic fields from power lines occurring in the general population is not associated with increased ALS risk.

Published
2017

24. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Author

Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia Moya L, García-Miñaúr S, Osmond M, Chad L, Quercia N, Carrasco D, Li C, Sanchez-Valle A, Kelley M, Nizon M, Jensson BO, Sulem P, Stefansson K, Gorokhova S, Busa T, Rio M, Hadj Habdallah H, Lesieur-Sebellin M, Amiel J, Pingault V, Mercier S, Vincent M, Philippe C, Fatus-Fauconnier C, Friend K, Halligan RK, Biswas S, Rosser J, Shoubridge C, Corbett M, Barnett C, Gecz J, Leppig K, Slavotinek A, Marcelis C, Pfundt R, de Vries BB, van Slegtenhorst MA, Brooks AS, Cogne B, Rambaud T, Tümer Z, Zackai EH, Akizu N, Song Y, and Hakonarson H

Subjects
Humans, Gene Regulatory Networks, Mutation, Missense, RNA Splicing, RNA Splicing Factors genetics, Nuclear Proteins genetics, DNA Repair Enzymes genetics, Spliceosomes genetics, Neurodevelopmental Disorders genetics
Abstract

Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), by identifying 46 unrelated individuals with 23 de novo U2AF2 missense variants (including 7 recurrent variants in 30 individuals) and 6 individuals with de novo PRPF19 variants. Eight U2AF2 variants dysregulated splicing of a model substrate. Neuritogenesis was reduced in human neurons differentiated from human pluripotent stem cells carrying two U2AF2 hyper-recurrent variants. Neural loss of function (LoF) of the Drosophila orthologs U2af50 and Prp19 led to lethality, abnormal mushroom body (MB) patterning, and social deficits, which were differentially rescued by wild-type and mutant U2AF2 or PRPF19. Transcriptome profiling revealed splicing substrates or effectors (including Rbfox1, a third splicing factor), which rescued MB defects in U2af50-deficient flies. Upon reanalysis of negative clinical exomes followed by data sharing, we further identified 6 patients with NDD who carried RBFOX1 missense variants which, by in vitro testing, showed LoF. Our study implicates 3 splicing factors as NDD-causative genes and establishes a genetic network with hierarchy underlying human brain development and function.

Published
2024
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