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1Academic Journal
المؤلفون: Oskoui, Maryam, Day, John W, Deconinck, Nicolas, Mazzone, Elena S, Nascimento, Andres, Saito, Kayoko, Vuillerot, Carole, Baranello, Giovanni, Goemans, Nathalie, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Servais, Laurent, Papp, Gergely, Gorni, Ksenija, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S, Staunton, Hannah, Yeung, Wai Yin, Fontoura, Paulo, Mercuri, Eugenio, SUNFISH Working Group
المصدر: Journal of Neurology, 270 (5), 2531 - 2546 (2023-05)
مصطلحات موضوعية: Motor function, Risdiplam, SMA, SUNFISH, Safety, Spinal muscular atrophy, Pyrimidines, Azo Compounds, Humans, Pyrimidines/adverse effects, Azo Compounds/adverse effects, Spinal Muscular Atrophies of Childhood/drug therapy, Muscular Atrophy, Spinal/genetics, Muscular Atrophy, Spinal, Spinal Muscular Atrophies of Childhood, Neurology, Neurology (clinical), Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie
Relation: https://link.springer.com/content/pdf/10.1007/s00415-023-11560-1.pdf; urn:issn:0340-5354; urn:issn:1432-1459
URL الوصول: https://orbi.uliege.be/handle/2268/324963
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2Academic Journal
المؤلفون: Oskoui, Maryam, Day, John W, Deconinck, Nicolas, Mazzone, Elena S, Nascimento, Andres, Saito, Kayoko, Vuillerot, Carole, Baranello, Giovanni, Goemans, Nathalie, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Servais, Laurent, Papp, Gergely, Gorni, Ksenija, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S, Staunton, Hannah, Yeung, Wai Yin, Fontoura, Paulo, Mercuri, Eugenio, SUNFISH Working Group
المصدر: Journal of Neurology, 270 (5), 2547 - 2549 (2023-05)
مصطلحات موضوعية: Neurology, Neurology (clinical), Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie
Relation: https://link.springer.com/content/pdf/10.1007/s00415-023-11658-6.pdf; urn:issn:0340-5354; urn:issn:1432-1459
URL الوصول: https://orbi.uliege.be/handle/2268/324958
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3Academic Journal
المؤلفون: Ayyar Gupta, Vandana, Pitchforth, Jacqueline M, Domingos, Joana, Ridout, Deborah, Iodice, Mario, Rye, Catherine, Chesshyre, Mary, Wolfe, Amy, Selby, Victoria, Mayhew, Anna, Mazzone, Elena S, Ricotti, Valeria, Hogrel, Jean-Yves, Niks, Erik H, de Groot, Imelda, Servais, Laurent, Straub, Volker, Mercuri, Eugenio, Manzur, Adnan Y, Muntoni, Francesco, iMDEX Consortium and the U.K. NorthStar Clinical Network
المصدر: PLoS One , 18 (4) , Article e0283669. (2023)
مصطلحات موضوعية: Male, Humans, Muscular Dystrophy, Duchenne, Minimal Clinically Important Difference, Walking, Physical Therapy Modalities, Surveys and Questionnaires
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10169225/1/journal.pone.0283669.pdf; https://discovery.ucl.ac.uk/id/eprint/10169225/
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4Academic Journal
المؤلفون: Mercuri, Eugenio, Baranello, Giovanni, Boespflug-Tanguy, Odile, De Waele, Liesbeth, Goemans, Nathalie, Kirschner, Janbernd, Masson, Riccardo, Mazzone, Elena S, Pechmann, Astrid, Pera, Maria Carmela, Vuillerot, Carole, Bader-Weder, Silvia, Gerber, Marianne, Gorni, Ksenija, Hoffart, Janine, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S, Yeung, Wai Yin, Servais, Laurent
المصدر: European Journal of Neurology (2022) (In press).
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, adverse effects, medication, movement disorders, neuromuscular diseases, randomized clinical trial, SURVIVAL, DISCOVERY, OLESOXIME
وصف الملف: application/pdf
Relation: https://discovery.ucl.ac.uk/id/eprint/10154130/1/Euro%20J%20of%20Neurology%20-%202022%20-%20Mercuri.pdf; https://discovery.ucl.ac.uk/id/eprint/10154130/
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5Academic Journal
المؤلفون: Montes, Jacqueline, Dunaway Young, Sally, Mazzone, Elena S., Pasternak, Amy, Glanzman, Allan M., Finkel, Richard S., Darras, Basil T., Muntoni, Francesco, Mercuri, Eugenio, De Vivo, Darryl C., Bishop, Kathie M., Schneider, Eugene, Bennett, C. Frank, Foster, Richard, Farwell, Wildon
المساهمون: Biogen
المصدر: Muscle & Nerve ; volume 60, issue 4, page 409-414 ; ISSN 0148-639X 1097-4598
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6Academic Journal
المؤلفون: Martin, Carmen, Deconinck, Nicolas, Kirschner, Janbernd, Vuillerot, Carole, Yeung, Wai Yin, Nascimento, Andres, Baranello, Giovanni, Braid, Jessica, Mazzone, Elena S., Boespflug-Tanguy, Odile, Gorni, Ksenija, Gerber, Marianne, Saito, Kayoko, Goemans, Nathalie, Kostera-Pruszczyk, Anna, Oskoui, Maryam, Servais, Laurent, Scalco, Renata S., Mercuri, Eugenio, Day, John W.
المصدر: Journal of the Neurological Sciences. - 455 (2023) , 121096, ISSN: 0022-510X
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7Academic Journal
المؤلفون: Mercuri, Eugenio, Deconinck, Nicolas, Mazzone, Elena S, Nascimento, Andres, Oskoui, Maryam, Saito, Kayoko, Vuillerot, Carole, Baranello, Giovanni, Boespflug-Tanguy, Odile, Goemans, Nathalie, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Servais, Laurent, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Staunton, Hannah, Yeung, Wai Yin, Martin, Carmen, Fontoura, Paulo, Day, John W, SUNFISH Study Group
المساهمون: Mercuri, Eugenio, Deconinck, Nicola, Mazzone, Elena S, Nascimento, Andre, Oskoui, Maryam, Saito, Kayoko, Vuillerot, Carole, Baranello, Giovanni, Boespflug-Tanguy, Odile, Goemans, Nathalie, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Servais, Laurent, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Staunton, Hannah, Yeung, Wai Yin, Martin, Carmen, Fontoura, Paulo, Day, John W, Pera, MARIA CARMELA
مصطلحات موضوعية: Adolescent, Adult, Aged, Azo Compound, Child, Preschool, Double-Blind Method, Human, Young Adult, Pyrimidine, Spinal Muscular Atrophies of Childhood
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000734663200021; volume:21; issue:1; firstpage:42; lastpage:52; numberofpages:11; journal:LANCET NEUROLOGY; https://hdl.handle.net/11381/2997653; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121472126
الاتاحة: https://hdl.handle.net/11381/2997653
https://doi.org/10.1016/S1474-4422(21)00367-7 -
8Academic Journal
المؤلفون: Finkel, Richard S., Mercuri, Eugenio, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon, Muntoni, Francesco, Wirth, Brunhilde, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian D., Quijano‐Roy, Susana, Bertini, Enrico, Hurst Davis, R., Qian, Ying, Sejersen, Thomas
المصدر: Neuromuscular disorders. - 28, 3 (2018) , 197-207, ISSN: 1873-2364
مصطلحات موضوعية: Care, Ernährung
وصف الملف: pdf
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9Academic Journal
المؤلفون: Montes, Jacqueline, McDermott, Michael P., Mirek, Elizabeth, Mazzone, Elena S., Main, Marion, Glanzman, Allan M., Duong, Tina, Young, Sally Dunaway, Salazar, Rachel, Pasternak, Amy, Gee, Richard, de Sanctis, Roberto, Coratti, Giorgia, Forcina, Nicola, Fanelli, Lavinia, Ramsey, Danielle, Milev, Evelin, Civitello, Matthew, Pane, Marika, Pera, Maria Carmela, Scoto, Mariacristina, Day, John W., Tennekoon, Gihan, Finkel, Richard, Darras, Basil T., Muntoni, Francesco, De Vivo, Darryl C., Mercuri, Eugenio
مصطلحات موضوعية: Spinal muscular atrophy, Aging, Walking, Neurology
Relation: https://doi.org/10.7916/D87M1RMZ
الاتاحة: https://doi.org/10.7916/D87M1RMZ
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10Academic Journal
المؤلفون: Salazar, Rachel, Montes, Jacqueline, Dunaway Young, Sally, McDermott, Michael P., Martens, William, Pasternak, Amy, Quigley, Janet, Mirek, Elizabeth, Glanzman, Allan M., Civitello, Matt, Gee, Richard, Duong, Tina, Mazzone, Elena S., Main, Marion, Mayhew, Anna, Ramsey, Danielle, Muni Lofra, Robert, Coratti, Giorgia, Fanelli, Lavinia, De Sanctis, Roberto, Forcina, Nicola, Chiriboga, Claudia, Darras, Basil T., Tennekoon, Gihan I., Scoto, Mariacristina, Day, John W., Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio, De Vivo, Darryl C.
المصدر: Pediatric Physical Therapy ; volume 30, issue 3, page 209-215 ; ISSN 0898-5669
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11Academic Journal
المؤلفون: Mercuri, Eugenio, Finkel, Richard S., Muntoni, Francesco, Wirth, Brunhilde, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico, Davis, Rebecca Hurst, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon, Qian, Ying, Sejersen, Thomas, Tiziano, Francesco Danilo, Tizzano, Eduardo, Topaloglu, Haluk, Swoboda, Kathy, Laing, Nigel, Kayoko, Saito, Prior, Thomas, Chung, Wendy K., Wu, Shou-Mei, Mazzone, Elena, Coleman, Caron, Gee, Richard, Glanzman, Allan, Kroksmark, Anna-Karin, Krosschell, Kristin, Nelson, Leslie, Rose, Kristy, Stępień, Agnieszka, Vuillerot, Carole, Dubousset, Jean
المصدر: Neuromuscular Disorders ; volume 28, issue 2, page 103-115 ; ISSN 0960-8966
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12Academic Journal
المؤلفون: Mazzone, Elena S., Coratti, Giorgia, Sormani, Maria Pia, Messina, Sonia, Pane, Marika, D'Amico, Adele, Colia, Giulia, Fanelli, Lavinia, Berardinelli, Angela, Gardani, Alice, Lanzillotta, Valentina, D'Ambrosio, Paola, Petillo, Roberta, Cavallaro, Filippo, Frosini, Silvia, Bonfiglio, Serena, De Sanctis, Roberto, Rolle, Enrica, Forcina, Nicola, Magri, Francesca, Vita, Gianluca, Palermo, Concetta, Donati, Maria Alice, Procopio, Elena, Arnoldi, Maria Teresa, Baranello, Giovanni, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Torrente, Yvan, Previtali, Stefano C., Bruno, Claudio, Politano, Luisa, Comi, Giacomo P., D'Angelo, Maria Grazia, Bertini, Enrico, Mercuri, Eugenio, BELLO, LUCA, PEGORARO, ELENA
المساهمون: Mazzone, Elena S., Coratti, Giorgia, Sormani, Maria Pia, Messina, Sonia, Pane, Marika, D'Amico, Adele, Colia, Giulia, Fanelli, Lavinia, Berardinelli, Angela, Gardani, Alice, Lanzillotta, Valentina, D'Ambrosio, Paola, Petillo, Roberta, Cavallaro, Filippo, Frosini, Silvia, Bello, Luca, Bonfiglio, Serena, De Sanctis, Roberto, Rolle, Enrica, Forcina, Nicola, Magri, Francesca, Vita, Gianluca, Palermo, Concetta, Donati, Maria Alice, Procopio, Elena, Arnoldi, Maria Teresa, Baranello, Giovanni, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Torrente, Yvan, Previtali, Stefano C., Bruno, Claudio, Politano, Luisa, Comi, Giacomo P., D'Angelo, Maria Grazia, Bertini, Enrico, Mercuri, Eugenio
مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Disease Progression, Human, Male, Muscular Dystrophy, Duchenne, Young Adult, Medicine (all), Biochemistry, Genetics and Molecular Biology (all), Agricultural and Biological Sciences (all)
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/26982196; info:eu-repo/semantics/altIdentifier/wos/WOS:000372574900084; volume:11; issue:3; firstpage:e0151445; journal:PLOS ONE; http://hdl.handle.net/11577/3205058; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84978129492; http://www.plosone.org/article/fetchObject.action?uri=info:doi/10.1371/journal.pone.0151445&representation=PDF
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13Academic Journal
المؤلفون: Mercuri, Eugenio, Baranello, Giovanni, Boespflug‐Tanguy, Odile, De Waele, Liesbeth, Goemans, Nathalie, Kirschner, Janbernd, Masson, Riccardo, Mazzone, Elena S., Pechmann, Astrid, Pera, Maria Carmela, Vuillerot, Carole, Bader‐Weder, Silvia, Gerber, Marianne, Gorni, Ksenija, Hoffart, Janine, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S., Yeung, Wai Yin
المصدر: European Journal of Neurology; Jul2023, Vol. 30 Issue 7, p1945-1956, 12p
مصطلحات موضوعية: SPINAL muscular atrophy, BLOOD proteins, MOTOR neurons, BODY weight
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14Academic Journal
المؤلفون: University of California Davis School of Medicine, Davis, Sacramento, CA, USA ( host institution ), McDonald, Craig M ( author ), Campbell, Craig ( author ), Torricelli, Ricardo Erazo ( author ), Finkel, Richard S ( author ), Flanigan, Kevin M ( author ), Goemans, Nathalie ( author ), Heydemann, Peter ( author ), Kaminska, Anna ( author ), Kirschner, Janbernd ( author ), Muntoni, Francesco ( author ), Osorio, Andrés Nascimento ( author ), Schara, Ulrike ( author ), Sejersen, Thomas ( author ), Shieh, Perry B ( author ), Sweeney, H Lee ( UF author ), Topaloglu, Haluk ( author ), Tulinius, Már ( author ), Vilchez, Juan J ( author ), Voit, Thomas ( author ), Wong, Brenda ( author ), Elfring, Gary ( author ), Kroger, Hans ( author ), Luo, Xiaohui ( author ), McIntosh, Joseph ( author ), Ong, Tuyen ( author ), Riebling, Peter ( author ), Souza, Marcio ( author ), Spiegel, Robert J ( author ), Peltz, Stuart W ( author ), Mercuri, Eugenio ( author ), Alfano, Lindsay N ( author ), Eagle, Michelle ( author ), James, Meredith K ( author ), Lowes, Linda ( author ), Mayhew, Anna ( author ), Mazzone, Elena S ( author ), Nelson, Leslie ( author ), Rose, Kristy J ( author ), Abdel-Hamid, Hoda Z ( author ), Apkon, Susan D ( author ), Barohn, Richard J ( author ), Bertini, Enrico ( author ), Bloetzer, Clemens ( author ), de Vaud, Lausanne Canton ( author ), Butterfield, Russell J ( author ), Chabrol, Brigitte ( author ), Chae, Jong-Hee ( author ), Jongno-gu, Daehak-ro ( author ), Comi, Giacomi Pietro ( author ), Darras, Basil T ( author ), Dastgir, Jahannaz ( author ), Desguerre, Isabelle ( author ), Escobar, Raul G ( author ), Finanger, Erika ( author ), Guglieri, Michela ( author ), Hughes, Imelda ( author ), Iannaccone, Susan T ( author ), Jones, Kristi J ( author ), Karachunski, Peter ( author ), Kudr, Martin ( author ), Lotze, Timothy ( author ), Mah, Jean K ( author ), Mathews, Katherine ( author ), Nevo, Yoram ( author ), Parsons, Julie ( author ), Péréon, Yann ( author ), de Queiroz Campos Araujo, Alexandra Prufer ( author ), Renfroe, J Ben ( author ), de Resende, Maria Bernadete Dutra ( author ), Ryan, Monique ( author ), Selby, Kathryn ( author ), Tennekoon, Gihan ( author ), Vita, Giuseppe ( author )
وصف الملف: Pages
Relation: The Lancet; S0140673617316112; http://ufdc.ufl.edu/LS00592085/00001
الاتاحة: https://doi.org/10.1016/S0140-6736(17)31611-2
http://ufdc.ufl.edu/LS00592085/00001 -
15Academic Journal
المؤلفون: Ramsey, Danielle, Scoto, Mariacristina, Mayhew, Anna, Main, Marion, Mazzone, Elena S., Montes, Jacqueline, de Sanctis, Roberto, Salazar, Rachel, Young, Sally Dunaway, Glanzman, Allan M., Pasternak, Amy, Quigley, Janet, Mirek, Elizabeth, Duong, Tina, Gee, Richard, Civitello, Matthew, Tennekoon, Gihan, Pane, Marika, Pera, Maria Carmela, Bushby, Kate, Day, John, Darras, Basil T., De Vivo, Darryl C., Finkel, Richard, Mercuri, Eugenio, Muntoni, Francesco
مصطلحات موضوعية: Psychometrics, Spinal muscular atrophy, Neurosciences, Medicine
Relation: https://doi.org/10.7916/D8D50SQD
الاتاحة: https://doi.org/10.7916/D8D50SQD
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16Academic Journal
المؤلفون: Mazzone, Elena S., Mayhew, Anna, Montes, Jacqueline, Ramsey, Danielle, Fanelli, Lavinia, Young, Sally Dunaway, Salazar, Rachel, De Sanctis, Roberto, Pasternak, Amy, Glanzman, Allan, Coratti, Giorgia, Civitello, Matthew, Forcina, Nicola, Gee, Richard, Duong, Tina, Pane, Marika, Scoto, Mariacristina, Pera, Maria Carmela, Messina, Sonia, Tennekoon, Gihan, Day, John W., Darras, Basil T., De Vivo, Darryl C., Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio
المصدر: Muscle & Nerve ; volume 55, issue 6, page 869-874 ; ISSN 0148-639X 1097-4598
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17Academic Journal
المؤلفون: Pera, Maria C., Coratti, Giorgia, Forcina, Nicola, Mazzone, Elena S., Scoto, Mariacristina, Montes, Jacqueline, Pasternak, Amy, Mayhew, Anna, Messina, Sonia, Sframeli, Maria, Main, Marion, Lofra, Robert Muni, Duong, Tina, Ramsey, Danielle, Dunaway, Sally, Salazar, Rachel, Fanelli, Lavinia, Civitello, Matthew, de Sanctis, Roberto, Antonaci, Laura, Lapenta, Leonardo, Lucibello, Simona, Pane, Marika, Day, John, Darras, Basil T., De Vivo, Darryl C., Muntoni, Francesco, Finkel, Richard, Mercuri, Eugenio
المساهمون: Famiglie SMA
المصدر: BMC Neurology ; volume 17, issue 1 ; ISSN 1471-2377
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18Academic Journal
المؤلفون: Day, John W., Deconinck, Nicolas, Kirschner, Janbernd, Mazzone, Elena S., Nascimento, Andres, Oskoui, Maryam, Saito, Kyoko, Vuillerot, Carole, Baranello, Giovanni, Boespflug-Tanguy, Odile, Goemans, Nathalie, Kostera-Pruszczyk, Anna, Servais, Laurent, Braid, Jessica, Gerber, Marianne, Gorni, Ksenija, Martin, Carmen, Scalco, Renata S., Yeung, Wai Yin, Mercuri, Eugenio
المصدر: Neurology ; volume 98, issue 18_supplement ; ISSN 0028-3878 1526-632X
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19Academic Journal
المؤلفون: Servais, Laurent, Day, John W, Mazzone, Elena S, Oskoui, Maryam, Baranello, Giovanni, Gerber, Marianne, Martin, Carmen, McIver, Tammy, Yeung, Wai Yin, Mercuri, Eugenio
المصدر: Journal of Neurology, Neurosurgery & Psychiatry ; volume 93, issue 9, page e2.148 ; ISSN 0022-3050 1468-330X
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20Academic Journal
المؤلفون: Servais, Laurent, Day, John W, Mazzone, Elena S, Nascimento, Andres, Oskoui, Maryam, Baranello, Giovanni, Gerber, Marianne, Martin, Carmen, Yeung, Wai Yin, Mercuri, Eugenio
المصدر: Journal of Neurology, Neurosurgery & Psychiatry ; volume 93, issue 9, page e2.149 ; ISSN 0022-3050 1468-330X