檢索結果 - Enrico Bugiardini

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  1. 1
    Consensus on cerebral involvement in myotonic dystrophy

    Consensus on cerebral involvement in myotonic dystrophy 由 Enrico Bugiardini, G. Meola

    出版 2014
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  2. 2
    Plasma microRNAs as biomarkers for myotonic dystrophy type 1

    Plasma microRNAs as biomarkers for myotonic dystrophy type 1 由 Alessandra Perfetti, Simona Greco, Enrico Bugiardini, Rosanna Cardani, Paola Gaia, Carlo Gaetano, G. Meola, Fabio Martelli

    出版 2014
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  3. 3
    Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies

    Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies 由 Karen Suetterlin, Enrico Bugiardini, Juan Pablo Kaski, Jasper M. Morrow, Emma Matthews, Michael G. Hanna, Doreen Fialho

    出版 2015
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  4. 4
    SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype

    SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype 由 Enrico Bugiardini, Ilaria Rivolta, Anna Binda, A. Soriano Caminero, Federica Cirillo, A. Cinti, Roberto Giovannoni, Annalisa Botta, Rosanna Cardani, Matthew Wicklund, G. Meola

    出版 2015
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  5. 5
    GSK3β mediates muscle pathology in myotonic dystrophy

    GSK3β mediates muscle pathology in myotonic dystrophy 由 Karlie Jones, Christina Wei, Polina Iakova, Enrico Bugiardini, Christiane Schneider‐Gold, G. Meola, James R. Woodgett, James M. Killian, Nikolai A. Timchenko, Lubov Timchenko

    出版 2012
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  6. 6
    Autonomic innervation in multiple system atrophy and pure autonomic failure

    Autonomic innervation in multiple system atrophy and pure autonomic failure 由 Vincenzo Donadio, Pietro Cortelli, Mikael Elam, Vitantonio Di Stasi, P. Montagna, Björn Holmberg, Maria Pia Giannoccaro, Enrico Bugiardini, Patrizia Avoni, Agostino Baruzzi, Rocco Liguori

    出版 2010
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  7. 7
    Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2

    Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2 由 Rosanna Cardani, Marzia Giagnacovo, Annalisa Botta, Fabrizio Rinaldi, Alessandra Morgante, Bjarne Udd, Olayinka Raheem, Sini Penttilä, Tiina Suominen, Laura Valentina Renna, Valeria Sansone, Enrico Bugiardini, Giuseppe Novelli, G. Meola

    出版 2012
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  8. 8
    The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies

    The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies 由 Enrico Bugiardini, Jasper M. Morrow, Sachit Shah, Claire Wood, David S. Lynch, Alan M. Pitmann, Mary M. Reilly, Henry Houlden, Emma Matthews, Matt Parton, Michael G. Hanna, Volker Straub, Tarek Yousry

    出版 2018
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  9. 9
    A novel<i>ATP1A2</i>mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

    A novel<i>ATP1A2</i>mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms 由 Marisol Sampedro Castañeda, Edmar Zanoteli, R. Scalco, Vinicius Scaramuzzi, Vitor Marques Caldas, Umbertina Conti Reed, André Macedo Serafim Silva, Benjamin O’Callaghan, Rahul Phadke, Enrico Bugiardini, Richa Sud, Samuel McCall, Michael G. Hanna, Hanne Poulsen, Roope Männikkö, Emma Matthews

    出版 2018
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  10. 10
    MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

    MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy 由 Enrico Bugiardini, Alice Mitchell, Ilaria Dalla Rosa, Hue-Tran Horning-Do, Alan M. Pitmann, Olivia V. Poole, Janice L. Holton, Sachit Shah, Cathy E. Woodward, Iain P. Hargreaves, Rosaline C. M. Quinlivan, Alexey Amunts, Rudolf J. Wiesner, Henry Houlden, Ian Holt, Michael G. Hanna, Robert D. S. Pitceathly, Antonella Spinazzola

    出版 2019
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  11. 11
    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study 由 Katherine Schon, Rita Horváth, Wei Wei, Claudia Calabrese, Arianna Tucci, Kristina Ibáñez, Thiloka Ratnaike, Robert D. S. Pitceathly, Enrico Bugiardini, Rosaline C. M. Quinlivan, Michael G. Hanna, Emma Clement, Emma Ashton, John A. Sayer, Paul M. Brennan, Dragana Josifova, Louise Izatt, Carl Fratter, Victoria Nesbitt, Timothy Barrett, Dominic J McMullen, Audrey Smith, Charulata Deshpande, Sarah Smithson, Richard Festenstein, Natalie Canham, Mark J. Caulfield, Henry Houlden, Shamima Rahman, Patrick F. Chinnery

    出版 2021
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  12. 12
    Clinical and genetic characterization of leukoencephalopathies in adults

    Clinical and genetic characterization of leukoencephalopathies in adults 由 David S. Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, Enrico Bugiardini, Fernando Freua, Leandro Tavares Lucato, Lúcia Inês Macedo‐Souza, Rahul Lakshmanan, Justin Kinsella, Áine Merwick, Alexander M. Rossor, Nin Bajaj, Brian Herron, Paul McMonagle, Patrick J. Morrison, Deborah Hughes, Alan Pittman, Matilde Laurá, Mary M. Reilly, Jason D. Warren, Catherine J. Mummery, Jonathan M. Schott, Matthew Adams, Nick C. Fox, Elaine Murphy, Indran Davagnanam, Fernando Kok, Jeremy Chataway, Henry Houlden

    出版 2017
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  13. 13
    Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

    Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing 由 Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A. Yépez, Anna Esteve‐Codina, Julien Gagneur, Kornelia Ellwanger, Ronny Derks, Marjan M. Weiss, Amber den Ouden, Simone van den Heuvel, Hilde Swinkels, Nick Zomer, Marloes Steehouwer, Luke O’Gorman, Galuh Astuti, Kornelia Neveling, Rebecca Schüle, Jishu Xu, Matthis Synofzik, Danique Beijer, Holger Hengel, Lüdger Schöls, Kristl G. Claeys, Jonathan Baets, Liedewei Van de Vondel, Alessandra Ferlini, Rita Selvatici, Heba Morsy, Marwa Saeed Abd Elmaksoud, Volker Straub, Juliane Müller, Veronica Pini, Luke Perry, Anna Sárközy, Irina Zaharieva, Francesco Muntoni, Enrico Bugiardini, Kiran Polavarapu, Rita Horváth, Evan Reid, Hanns Lochmüller, Marco Spinazzi, Marco Savarese, Leslie Matalonga, Steven Laurie, Han G. Brunner, Holm Graeßner, Sergi Beltrán, Stephan Ossowski, Lisenka E.L.M. Vissers, Christian Gilissen, Alexander Hoischen

    出版 2024
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  14. 14
    Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

    Cell environment shapes TDP-43 function with implications in neuronal and muscle disease 由 Urša Šušnjar, Neva Škrabar, Anna‐Leigh Brown, Yasmine Abbassi, Hemali Phatnani, Hemali Phatnani, Pietro Fratta, Justin Kwan, Dhruv Sareen, James R. Broach, Zachary Simmons, Ximena Arcila-Londono, E. B. Lee, Vivianna M. Van Deerlin, Neil A. Shneider, Ernest Fraenkel, Lyle W. Ostrow, Frank Baas, James Berry, Oleg Butovsky, Robert H. Baloh, Ophir Shalem, Terry Heiman‐Patterson, Leonidas Stefanis, Siddharthan Chandran, Suvankar Pal, Claire M. Smith, Andrea Malaspina, Molly Hammell, Nikolaos A. Patsopoulos, Josh Dubnau, Mary Poss, Boya Zhang, Noah Zaitlen, Eran Hornstein, Jonathan Mill, Efthimios Dardiotis, Robert Bowser, Vilas Menon, Matthew B. Harms, Nazem Atassi, Dale J. Lange, Daniel J. MacGowan, Corey T. McMillan, Eleonora Aronica, Brent T. Harris, John Ravits, John F. Crary, Leslie M. Thompson, Towfique Raj, Sabrina Paganoni, Darius J. Adams, Suma Babu, Vivian E. Drory, Marc Gotkine, Iris Broce, Jennifer E. Phillips‐Cremins, Avindra Nath, Steven Finkbeiner, Gregory A. Cox, Andrea Cortese, Cristina Cereda, Enrico Bugiardini, Rosanna Cardani, G. Meola, Michela Ripolone, Maurizio Moggio, Maurizio Romano, Maria Secrier, Pietro Fratta, Emanuele Buratti

    出版 2022
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  15. 15
    Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy

    Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy 由 Amel Karaa, Enrico Bertini, Valério Carelli, Bruce H. Cohen, Gregory M. Enns, Marni J. Falk, Amy B. Goldstein, Gráinne S. Gorman, Richard Haas, Michio Hirano, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Costanza Lamperti, Anna Lehman, Nicola Longo, Mária Judit Molnár, Sumit Parikh, Han C. Phan, Robert D. S. Pitceathly, Russell P. Saneto, Fernando Scaglia, Serenella Servidei, Mark A. Tarnopolsky, António Toscano, Johan L.K. Van Hove, John Vissing, Jerry Vockley, Jeffrey S. Finman, David A. Brown, James A. Shiffer, Michelango Mancuso, Valentino Maria Lucia, P. Alessandro, Sancricca Cristina, Grosz Zoltan, Györgyi Bathori, Daria Diodato, Gessica Vasco, Soler-Alfonso Claudia, Abdullhameed May Ali, Hanna Michael G, Enrico Bugiardini, Poole Olivia, Kendall Fran, A. Noelle Larson, Nithi Ajantha, Engelstad Kristin, Mattman Andre, M Michelle, Bischoff Alamut T, Büchner Boriana, Radelfahr Florentine, Stendel Claudia, Claudia B. Catarino, Tonni Hilary Elizabeth, Rossman Ian Tait, C. Marie, Victorio Maria Christina, Montano Vincenzo, Siciliano Gabriele, M.O. Musumeci Olimpia, Catania Alessina

    出版 2023
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  16. 16
    A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

    A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry 由 Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Currò, Macarena Cabrera‐Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick M. Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo Parolin Schnekenberg, Gorka Fernández‐Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, M.D. Gardner, David J. Amor, Garth A. Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, Piraye Oflazer, Nazlı Başak, Hülya Kayserili, Gözde Yeşil, Edoardo Malfatti, James B Lilleker, Matthew Wicklund, Robert D. S. Pitceathly, Stefen Brady, Bernard Brais, David Pellerin, Stephan Züchner, Matt C. Danzi, Marina Grandis, Giacomo P. Comi, Stefania Corti, Elena Abati, Antonio Toscano, Arianna Manini, Arianna Ghia, Cristina Tassorelli, Ilaria Quartesan, Roberto Simone, Alexander M. Rossor, Mary M. Reilly, Liam Carroll, Volker Straub, Bjarne Udd, Zhiyong Chen, Gisèle Bonne, Rosaline C. M. Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael Fahey, Enrico Bugiardini, Gianina Ravenscroft

    出版 2024
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  17. 17
    Neuromuscular disease genetics in under-represented populations: increasing data diversity

    Neuromuscular disease genetics in under-represented populations: increasing data diversity 由 Lindsay A. Wilson, William L. Macken, Luke Perry, Christopher J. Record, Katherine Schon, Rodrigo Siqueira Soares Frezatti, Sharika Raga, K. Satyam Naidu, Özlem Yayıcı Köken, İpek Polat, Musambo M Kapapa, Natalia Dominik, Stéphanie Efthymiou, Heba Morsy, Melissa Nel, Mahmoud R. Fassad, Fei Gao, Krutik Patel, Maryke Schoonen, Michelle Bisschoff, Armand Vorster, Hallgeir Jonvik, Ronel Human, Elsa Lubbe, Malebo Nonyane, Seena Vengalil, Saraswati Nashi, Kosha Srivastava, Richard J.L.F. Lemmers, Alisha Reyaz, Rinkle Mishra, Ana Töpf, Christina Trainor, Elizabeth Steyn, Amokelani C. Mahungu, Patrick J. van der Vliet, Ahmet Cevdet Ceylan, Semra Hız Kurul, Büşranur Çavdarlı, Cavidan Nur Semerci Gündüz, Gülay Güleç Ceylan, Madhu Nagappa, Karthik Bharadwaj Tallapaka, Periyasamy Govindaraj, Silvère M. van der Maarel, Narayanappa Gayathri, Bevinahalli N. Nandeesh, Somwe Wa Somwe, David Bearden, Michelle Kvalsund, Gita Ramdharry, Yavuz Oktay, Uluç Yiş, Haluk Topaloğlu, Anna Sárközy, Enrico Bugiardini, Franclo Henning, Jo M. Wilmshurst, Jeannine M. Heckmann, Robert McFarland, Robert W. Taylor, Izelle Smuts, Francois H. van der Westhuizen, Cláudia Ferreira da Rosa Sobreira, Pedro José Tomaselli, Wilson Marques, Rohit Bhatia, Ashwin Dalal, M.V. Padma Srivastava, Sireesha Yareeda, Atchayaram Nalini, Venugopalan Y. Vishnu, Kumarasamy Thangaraj, Volker Straub, Rita Horváth, Patrick F. Chinnery, Robert D. S. Pitceathly, Francesco Muntoni, Henry Houlden, Jana Vandrovcová, Mary M. Reilly, Michael G. Hanna

    出版 2023
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  18. 18
    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 由 Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcová, Stéphanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Bürglen, Stéphanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Rosa Pisani, Conceição Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Guéden, Omer Bar‐Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago‐Sim, Richard Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong‐Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad Mahdi Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz‐Rogers, Eric W. Klee, David A. Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier González‐Peñas, Ángel Carracedo, Arie van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Héron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, Michael G. Hanna, Enrico Bugiardini, Isabel C. Hostettler, Benjamin O’Callaghan, Alaa Khan, Andrea Cortese, Emer O’Connor, Wai Y. Yau, Thomas Bourinaris, Rauan Kaiyrzhanov, Viorica Chelban, M Madej, Maria C. Diana, Maria S. Vari, Marina Pedemonte, Claudio Bruno, Ganna Balagura, Marcello Scala, Chiara Fiorillo, Lino Nobili, Nancy T. Malintan, M. Natalia Zanetti, Shyam S. Krishnakumar, Gabriele Lignani, James E.C. Jepson, Paolo Broda, Sımona Baldassari, Pia Rossi, Floriana Fruscione, Francesca Madia

    出版 2019
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  19. 19
    Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

    Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes 由 Andrea Cortese, Yi Zhu, Adriana Rebelo, Sara Negri, Steve Courel, Lisa Abreu, Chelsea J. Bacon, Yunhong Bai, Dana M. Bis‐Brewer, Enrico Bugiardini, Elena Buglo, Matt C. Danzi, Shawna Feely, Alkyoni Athanasiou‐Fragkouli, Nourelhoda A. Haridy, Aixa Rodríguez, Alexa Bacha, Ashley Kosikowski, Beth Wood, Brett A. McCray, Brianna Blume, Carly E. Siskind, Charlotte J. Sumner, Daniela Calabrese, David Walk, Dragan Vujović, Eun Hye Park, Francesco Muntoni, Gabrielle Donlevy, Gyula Acsádi, John Day, Joshua Burns, Jun Li, Karen Krajewski, Kate Eichinger, Kayla Cornett, Krista Mullen, Perez Quiros Laura, Laurie Gutmann, Maria Barrett, Mario Saporta, Mariola Skorupinska, Natalie Grant, Paula Bray, Reza Sadjadi, Riccardo Zuccarino, Richard S. Finkel, Richard A. Lewis, Rosemary Shy, Sabrina W. Yum, Sarah Hilbert, Simone Thomas, Steffen Behrens‐Spraggins, Tara Jones, Thomas E. Lloyd, Tiffany Grider, Tim Estilow, Vera Fridman, Rosario Isasi, Alaa Khan, Matilde Laurá, Stefania Magri, Menelaos Pipis, Chiara Pisciotta, Eric Powell, Alexander M. Rossor, Paola Saveri, Janet E. Sowden, Stefano Tozza, Jana Vandrovcová, Julia E. Dallman, Elena Grignani, Enrico Marchioni, Steven S. Scherer, Beisha Tang, Zhiqiang Lin, Abdullah Al‐Ajmi, Rebecca Schüle, Matthis Synofzik, Thierry Maisonobe, Tanya Stojkovic, Michaela Auer‐Grumbach, Mohamed A. Abdelhamed, Sherifa A. Hamed, Ruxu Zhang, Fiore Manganelli, Lucio Santoro, Franco Taroni, Davide Pareyson, Henry Houlden, David N. Herrmann, Mary M. Reilly, Michael E. Shy, R. Grace Zhai, Stephan Züchner

    出版 2020
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  20. 20
    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 由 Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández‐Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard Roxburgh, Inés Albájar, Catherine Ashton, Nick Beauchamp, Sarah J. Beecroft, Emilia Bellone, José Berciano, Petya Bogdanova‐Mihaylova, Barbara Borroni, Bernard Brais, Enrico Bugiardini, Catarina Falcão de Campos, Aisling Carr, Liam Carroll, Francesca Castellani, Tiziana Cavallaro, Patrick F. Chinnery, Silvia Colnaghi, Giuseppe Cosentino, Joana Damásio, Soma Das, Grazia Devigili, Daniela Di Bella, D J Dick, Alexandra Dürr, Amar El-Saddig, Jennifer Faber, Moreno Ferrarini, Massimiliano Filosto, Geraint Fuller, Salvatore Gallone, Chiara Gemelli, Marina Grandis, John Hardy, Channa Hewamadduma, Rita Horváth, Vincent Huin, Daniele Imperiale, Pablo Iruzubieta, Diego Kaski, Andrew King, Thomas Klockgether, Müge Kovancılar Koç, Kishore R. Kumar, Thierry Küntzer, Nigel G. Laing, Matilde Laurá, Timothy Lavin, Peter Leigh, Lea Leonardis, Michael P. Lunn, Stefania Magri, Francesca Magrinelli, Maria João Malaquias, Michelangelo Mancuso, Hadi Manji, Sara Massucco, John McConville, Renato P. Munhoz, Sara Nagy, Alain Ndayisaba, Andrea H. Németh, Luiz Eduardo Novis, Johanna Palmio, Elena Pegoraro, David Pellerin, Benedetta Perrone, Chiara Pisciotta, James M. Polke, Malcolm J. Proudfoot, Laura Orsi, Aleksandar Radunović, Nilo Riva, Aiko Robert, Riccardo Ronco, Elena Rossini, Alexander M. Rossor, Irmak Şahbaz, Qais Sa’di, Ettore Salsano, Alessandro Salvalaggio, Lucio Santoro, Elisa Sarto

    出版 2024
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