المؤلفون: McDonald, Craig, Signorovitch, James, Mercuri, Eugenio, Niks, Erik, Wong, Brenda, Fillbrunn, Mirko, Sajeev, Gautam, Yim, Erica, Dieye, Ibrahima, Miller, Debra, Ward, Susan, Goemans, Nathalie

المصدر: PLoS ONE. 19(6)

مصطلحات موضوعية: Humans, Muscular Dystrophy, Duchenne, Child, Adolescent, Male, Walking, Clinical Trials as Topic, Vital Capacity, Upper Extremity, Disease Progression

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7zg227q2Test
https://escholarship.org/content/qt7zg227q2/qt7zg227q2.pdfTest

المؤلفون: Bello, Luca, Sabbatini, Daniele, Fusto, Aurora, Gorgoglione, Domenico, Borin, Giovanni, Penzo, Martina, Riguzzi, Pietro, Villa, Matteo, Vianello, Sara, Calore, Chiara, Melacini, Paola, Vio, Riccardo, Barp, Andrea, DAngelo, Grazia, Gandossini, Sandra, Politano, Luisa, Berardinelli, Angela, Messina, Sonia, Vita, Gian, Pedemonte, Marina, Bruno, Claudio, Albamonte, Emilio, Sansone, Valeria, Baranello, Giovanni, Masson, Riccardo, Astrea, Guja, DAmico, Adele, Bertini, Enrico, Pane, Marika, Lucibello, Simona, Mercuri, Eugenio, Spurney, Christopher, Clemens, Paula, Morgenroth, Lauren, Gordish-Dressman, Heather, Hoffman, Eric, Pegoraro, Elena, McDonald, Craig

المصدر: Journal of Neuromuscular Diseases. 11(2)

مصطلحات موضوعية: Duchenne muscular dystrophy, LTBP4, dilated cardiomyopathy, genetic modifiers, glucocorticoid treatment, Humans, Dystrophin, Haplotypes, Retrospective Studies, Stroke Volume, Ventricular Function, Left, Muscular Dystrophy, Duchenne, Cardiomyopathies, Protein Isoforms, Latent TGF-beta Binding Proteins

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5v7247q8Test

المؤلفون: Mercuri, Eugenio, Osorio, Andrés, Muntoni, Francesco, Buccella, Filippo, Desguerre, Isabelle, Kirschner, Janbernd, Tulinius, Már, de Resende, Maria, Morgenroth, Lauren, Gordish-Dressman, Heather, Johnson, Shelley, Kristensen, Allan, Werner, Christian, Trifillis, Panayiota, Henricson, Erik, McDonald, Craig

المصدر: Journal of Neurology. 270(8)

مصطلحات موضوعية: Ataluren, Effectiveness, Nonsense mutation Duchenne muscular dystrophy, STRIDE Registry, Safety, Humans, Codon, Nonsense, Muscular Dystrophy, Duchenne, Registries, Disease Progression

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/08q7827wTest

المؤلفون: Muntoni, Francesco, Signorovitch, James, Sajeev, Gautam, Lane, Henry, Jenkins, Madeline, Dieye, Ibrahima, Ward, Susan, Goemans, Nathalie, Niks, Erik, Wong, Brenda, Servais, Laurent, Straub, Volker, Guglieri, Michela, de Groot, Imelda, Chesshyre, Mary, Tian, Cuixia, Manzur, Adnan, Mercuri, Eugenio, Aartsma-Rus, Annemieke, McDonald, Craig

المصدر: Neurology. 100(15)

مصطلحات موضوعية: Child, Humans, Muscular Dystrophy, Duchenne, Genotype, Walking, Italy

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8xn0g86bTest

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

الوصول الحر: https://escholarship.org/uc/item/78z8t30mTest

المؤلفون: Sherlock, Sarah, Palmer, Jeffrey, Wagner, Kathryn, Abdel-Hamid, Hoda, Bertini, Enrico, Tian, Cuixia, Mah, Jean, Kostera-Pruszczyk, Anna, Muntoni, Francesco, Guglieri, Michela, Brandsema, John, Mercuri, Eugenio, Butterfield, Russell, Charnas, Lawrence, Marraffino, Shannon, McDonald, Craig

المصدر: Journal of Neurology. 269(8)

مصطلحات موضوعية: Biomarkers, Domagrozumab, Duchenne muscular dystrophy, Imaging, MRI, Neuromuscular disease, Antibodies, Monoclonal, Humanized, Biomarkers, Disease Progression, Humans, Magnetic Resonance Imaging, Male, Muscle, Skeletal, Muscular Dystrophy, Duchenne

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5r0250xcTest

المؤلفون: Annoussamy, Mélanie, Eggenspieler, Damien, Seferian, Andreea, Mercuri, Eugenio, Straub, Volker, Muntoni, Franscesco, Scoto, M., Poleur, Margaux, Daron, Aurore, Butoianu, N., Mirea, A., Goemans, N., Previtali, S., Tulinius, M., Nascimento, A., Heydemann, P., Panzara, M., Singh, T., Strijbos, P., Servais, Laurent

المصدر: Neuromuscular Disorders (2022); World Muscle Society 2022, 11.10.23

مصطلحات موضوعية: Human health sciences, Neurology, Sciences de la santé humaine, Neurologie

العلاقة: urn:issn:0960-8966; urn:issn:1873-2364

الوصول الحر: https://orbi.uliege.be/handle/2268/302710Test

المؤلفون: Kirschner, Janbernd, Bernert, Günther, Butoianu, Nina, De Waele, Liesbeth, Fattal-Valevski, Aviva, Haberlova, Jana, Moreno, Teresa, Klein, Andrea, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, Quijano-Roy, Susana, Sejersen, Thomas, Tizzano, Eduardo F, van der Pol, W Ludo, Wallace, Sean, Zafeiriou, Dimitrios, Ziegler, Andreas, Muntoni, Francesco, Servais, Laurent

مصطلحات موضوعية: 610 Medicine & health

العلاقة: https://dx.doi.org/10.1016/j.ejpn.2024.06.001Test

الإتاحة: https://doi.org/10.48350/19786710.1016/j.ejpn.2024.06.001Test
https://boris.unibe.ch/197867Test/

المؤلفون: Chiriboga, Claudia A, Bruno, Claudio, Duong, Tina, Fischer, Dirk, Mercuri, Eugenio, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Jaber, Birgit, Gorni, Ksenija, Kletzl, Heidemarie, Carruthers, Imogen, Martin, Carmen, Scalco, Renata S, Fontoura, Paulo, Muntoni, Francesco, JEWELFISH Study Group

المصدر: Journal of Neurology (2024) (In press).

مصطلحات موضوعية: Motor function, Risdiplam, SMA, Safety, Spinal muscular atrophy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10192469/1/s00415-024-12318-z.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10192469Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10192469/1/s00415-024-12318-z.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10192469Test/

المؤلفون: Wolfe, Amy, Stimpson, Georgia, Ramsey, Danielle, Coratti, Giorgia, Dunaway Young, Sally, Mayhew, Anna, Pane, Marika, Rohwer, Annemarie, Muni Lofra, Robert, Duong, Tina, O'Reilly, Emer, Milev, Evelin, Civitello, Matthew, Sansone, Valeria A, D'Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena, Main, Marion, Montes, Jacqueline, Glanzman, Allan M, Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Marini-Bettolo, Chiara, Day, John W, Darras, Basil T, De Vivo, Darryl C, Baranello, Giovanni, Scoto, Mariacristina, Finkel, Richard S, Mercuri, Eugenio, Muntoni, Francesco

مصطلحات موضوعية: R Medicine (General)

وصف الملف: text

العلاقة: https://oars.uos.ac.uk/3651/1/Disease%20Trajectories%20in%20the%20Revised%20Hammersmith%20Scale.pdfTest; Wolfe, Amy, Stimpson, Georgia, Ramsey, Danielle, Coratti, Giorgia, Dunaway Young, Sally, Mayhew, Anna, Pane, Marika, Rohwer, Annemarie, Muni Lofra, Robert, Duong, Tina, O'Reilly, Emer, Milev, Evelin, Civitello, Matthew, Sansone, Valeria A, D'Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena, Main, Marion, Montes, Jacqueline, Glanzman, Allan M, Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Marini-Bettolo, Chiara, Day, John W, Darras, Basil T, De Vivo, Darryl C, Baranello, Giovanni, Scoto, Mariacristina, Finkel, Richard S, Mercuri, Eugenio and Muntoni, Francesco (2024) Disease trajectories in the Revised Hammersmith Scale in a cohort of untreated patients with spinal muscular atrophy types 2 and 3. Journal of neuromuscular diseases. ISSN 2214-3602

الإتاحة: https://doi.org/10.3233/JND-230211Test
http://oars.uos.ac.uk/3651Test/
https://oars.uos.ac.uk/3651/1/Disease%20Trajectories%20in%20the%20Revised%20Hammersmith%20Scale.pdfTest
https://content.iospress.com/articles/journal-of-neuromuscular-diseases/jnd230211Test