المؤلفون: Sabbatini, Daniele, Fusto, Aurora, Vianello, Sara, Villa, Matteo, Janik, Joanna, DAngelo, Grazia, Diella, Eleonora, Magri, Francesca, Comi, Giacomo, Panicucci, Chiara, Bruno, Claudio, DAmico, Adele, Bertini, Enrico, Astrea, Guja, Battini, Roberta, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Previtali, Stefano, Messina, Sonia, Vita, Gianluca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio, Hoffman, Eric, Morgenroth, Lauren, Gordish-Dressman, Heather, Duong, Tina, Bello, Luca, Pegoraro, Elena, McDonald, Craig

المصدر: Journal of Neurology. 269(9)

مصطلحات موضوعية: CD40, Duchenne muscular dystrophy, Genetic modifiers, SPP1–osteopontin, Upper limb function, Actinin, Cohort Studies, Genotype, Humans, Muscular Dystrophy, Duchenne, Quality of Life, Upper Extremity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/78z8t30m

المؤلفون: Coratti, Giorgia, Pane, Marika, Brogna, Claudia, D'Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria A., Albamonte, Emilio, Ferraroli, Elisabetta, Mazzone, Elena Stacy, Fanelli, Lavinia, Messina, Sonia, Sframeli, Maria, Catteruccia, Michela, Cicala, Gianpaolo, Capasso, Anna, Ricci, Martina, Frosini, Silvia, De Luca, Giacomo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Norcia, Giulia, Passamano, Luigia, Scutifero, Marianna, Gardani, Alice, Pini, Antonella, Monaco, Giulia, D'Angelo, Maria Grazia, Leone, Daniela, Zanin, Riccardo, Vita, Gian Luca, Panicucci, Chiara, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Baranello, Giovanni, Dosi, Claudia, Bertini, Enrico, Nigro, Vincenzo, Politano, Luisa, Mercuri, Eugenio

المصدر: In Neuromuscular Disorders January 2024 34:75-82

المؤلفون: Whalen, Sandra, Shaw, Marie, Mignot, Cyril, Héron, Delphine, Bastaraud, Sandra Chantot, Walti, Cecile Cieuta, Liebelt, Jan, Elmslie, Frances, Yap, Patrick, Hurst, Jane, Forsythe, Elisabeth, Kirmse, Brian, Ozmore, Jillian, Spinelli, Alessandro Mauro, Calabrese, Olga, de Villemeur, Thierry Billette, Tabet, Anne Claude, Levy, Jonathan, Guet, Agnes, Kossorotoff, Manoëlle, Kamien, Benjamin, Morton, Jenny, McCabe, Anne, Brischoux-Boucher, Elise, Raas-Rothschild, Annick, Pini, Antonella, Carroll, Renée, Hartley, Jessica N, Frosk, Patrick, Slavotinek, Anne, Truxal, Kristen, Jennifer, Carroll, Dheedene, Annelies, Cui, Hong, Kumar, Vishal, Thomson, Glen, Riccardi, Florence, Gecz, Jozef, Villard, Laurent

المصدر: European Journal of Human Genetics. 29(9)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Digestive Diseases, Liver Disease, Brain Disorders, Clinical Research, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Child, Child, Preschool, Deafness, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Intellectual Disability, Loss of Function Mutation, Male, Membrane Proteins, Mutation, Missense, Pedigree, Phenotype, Syndrome, Care4Rare Canada Consortium, Clinical Sciences, Genetics & Heredity, Clinical sciences

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URL الوصول: https://escholarship.org/uc/item/3jk59196

المؤلفون: Nashabat, Marwan, Nabavizadeh, Nasrinsadat, Saraçoğlu, Hilal Pırıl, Sarıbaş, Burak, Avcı, Şahin, Börklü, Esra, Beillard, Emmanuel, Yılmaz, Elanur, Uygur, Seyide Ecesu, Kayhan, Cavit Kerem^{Aff4, Aff5}, Bosco, Luca^{Aff6, Aff7}, Eren, Zeynep Bengi, Steindl, Katharina, Richter, Manuela Friederike, Bademci, Guney, Rauch, Anita^{Aff8, Aff11, Aff12}, Fattahi, Zohreh^{Aff13, Aff14}, Valentino, Maria Lucia^{Aff15, Aff16}, Connolly, Anne M., Bahr, Angela, Viola, Laura, Bergmann, Anke Katharina, Rocha, Maria Eugenia, Peart, LeShon, Castro-Rojas, Derly Liseth, Bültmann, Eva, Khan, Suliman, Giarrana, Miriam Liliana, Teleanu, Raluca Ioana^{Aff24, Aff25}, Gonzalez, Joanna Michelle, Pini, Antonella, Schädlich, Ines Sophie, Vill, Katharina^{Aff28, Aff29}, Brugger, Melanie, Zuchner, Stephan^{Aff10, Aff30}, Pinto, Andreia, Donkervoort, Sandra, Bivona, Stephanie Ann, Riza, Anca^{Aff32, Aff33}, Streata, Ioana^{Aff32, Aff33}, Gläser, Dieter, Baquero-Montoya, Carolina, Garcia-Restrepo, Natalia, Kotzaeridou, Urania, Brunet, Theresa^{Aff28, Aff29}, Epure, Diana Anamaria, Bertoli-Avella, Aida, Kariminejad, Ariana, Tekin, Mustafa^{Aff10, Aff30}, von Hardenberg, Sandra, Bönnemann, Carsten G., Stettner, Georg M., Zanni, Ginevra, Kayserili, Hülya^{Aff2, Aff39}, Oflazer, Zehra Piraye, Escande-Beillard, Nathalie^{Aff1, Aff41, IDs41467024459335_cor57}

المصدر: Nature Communications. 15(1)

المؤلفون: Pera, Maria Carmela, Bravetti, Chiara, Piastra, Marco, Genovese, Orazio, Cicala, Gianpaolo, Forcina, Nicola, Carnicella, Sara, Stanca, Giulia, Sacchini, Michele, Catteruccia, Michela, Tosi, Michele, Cutrera, Renato, Cherchi, Claudio, Chiarini, Maria Beatrice, Salmin, Francesca, Pedemonte, Marina, Govoni, Alessandra, Mizzoni, Irene, Morando, Simone, Zanin, Riccardo, Rolle, Enrica, Salomon, Eleonora, Giannotta, Melania, Scarpini, Gaia, Toscano, Antonio, Gitto, Eloisa, Materia, Roberto, D’Alessandro, Rossella, Pane, Marika, Berti, Beatrice, Capasso, Anna, Coratti, Giorgia, Varone, Antonio, D’Amico, Adele, Messina, Sonia, Masson, Riccardo, Sansone, Valeria Ada, Donati, Maria Alice, Agosto, Caterina, Bruno, Claudio, Ricci, Federica, Pini, Antonella, Gagliardi, Delio, Filosto, Massimiliano, Corti, Stefania, Leone, Daniela, Palermo, Concetta, Onesimo, Roberta, De Sanctis, Roberto, Ricci, Martina, Bitetti, Ilaria, Sframeli, Maria, Dosi, Claudia, Albamonte, Emilio, Ticci, Chiara, Brolatti, Noemi, Bertini, Enrico, Finkel, Richard, Mercuri, Eugenio

المصدر: In eClinicalMedicine May 2023 59

المؤلفون: Bello, Luca, DAngelo, Grazia, Villa, Matteo, Fusto, Aurora, Vianello, Sara, Merlo, Beatrice, Sabbatini, Daniele, Barp, Andrea, Gandossini, Sandra, Magri, Francesca, Comi, Giacomo, Pedemonte, Marina, Tacchetti, Paola, Lanzillotta, Valentina, Trucco, Federica, DAmico, Adele, Bertini, Enrico, Astrea, Guja, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Albamonte, Emilio, De Mattia, Elisa, Rao, Fabrizio, Sansone, Valeria, Previtali, Stefano, Messina, Sonia, Vita, Gian, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio, Vianello, Andrea, Bruno, Claudio, Hoffman, Eric, Morgenroth, Lauren, Gordish-Dressman, Heather, Pegoraro, Elena, McDonald, Craig

المصدر: Annals of Clinical and Translational Neurology. 7(5)

مصطلحات موضوعية: Adolescent, Adult, CD40 Antigens, Child, Child, Preschool, Dystrophin, Follow-Up Studies, Glucocorticoids, Humans, Male, Muscular Dystrophy, Duchenne, Osteopontin, Respiratory Function Tests, Respiratory Insufficiency, Retrospective Studies, Vital Capacity, Young Adult

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URL الوصول: https://escholarship.org/uc/item/1gs0d2d1

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المؤلفون: Fusto, Aurora, Cassandrini, Denise, Fiorillo, Chiara, Codemo, Valentina, Astrea, Guja, D’Amico, Adele, Maggi, Lorenzo, Magri, Francesca, Pane, Marika, Tasca, Giorgio, Sabbatini, Daniele, Bello, Luca, Battini, Roberta, Bernasconi, Pia, Fattori, Fabiana, Bertini, Enrico Silvio, Comi, Giacomo, Messina, Sonia, Mongini, Tiziana, Moroni, Isabella, Panicucci, Chiara, Berardinelli, Angela, Donati, Alice, Nigro, Vincenzo, Pini, Antonella, Giannotta, Melania, Dosi, Claudia, Ricci, Enzo, Mercuri, Eugenio, Minervini, Giovanni, Tosatto, Silvio, Santorelli, Filippo, Bruno, Claudio^{Aff13, IDs40478022013570_cor33}, Pegoraro, Elena^{Aff1, IDs40478022013570_cor34}

المصدر: Acta Neuropathologica Communications. 10(1)

المؤلفون: Della Vecchia, Stefania, Tessa, Alessandra^{Aff1, IDs00415023115892_cor2}, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta^{Aff1, Aff6}, Casali, Carlo, Ciof, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego^{Aff1, Aff14}, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella^{Aff19, Aff21}, Spagnoli, Carlotta, Ticci, Chiara^{Aff1, Aff18}, Rubegni, Anna, Santorelli, Filippo Maria^{Aff1, IDs00415023115892_cor39}

المصدر: Journal of Neurology. 270(4):2345-2346

المؤلفون: Vecchia, Stefania Della, Tessa, Alessandra^{Aff1, IDs00415021107923_cor2}, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta^{Aff1, Aff6}, Casali, Carlo, Cioffi, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego^{Aff1, Aff14}, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella^{Aff19, Aff21}, Spagnoli, Carlotta, Ticci, Chiara^{Aff1, Aff18}, Rubegni, Anna, Santorelli, Filippo Maria^{Aff1, IDs00415021107923_cor39}

المصدر: Journal of Neurology. 269(1):437-450