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1دورية أكاديمية
المؤلفون: Kirschner, J, Butoianu, N, Goemans, N, Haberlova, J, Kostera-Pruszczyk, A, Mercuri, E, van der Pol, WL, Quijano-Roy, S, Sejersen, T, Tizzano, EF, Ziegler, A, Servais, L, Muntoni, F
المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 28:38-43
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Bril, Vera, Szczudlik, Andrzej, Vaitkus, Antanas, Rozsa, Csilla, Kostera-Pruszczyk, Anna, Hon, Petr, Bednarik, Josef, Tyblova, Michaela, Köhler, Wolfgang, Toomsoo, Toomas, Nowak, Richard J, Mozaffar, Tahseen, Freimer, Miriam L, Nicolle, Michael W, Magnus, Tim, Pulley, Michael T, Rivner, Michael, Dimachkie, Mazen M, Distad, B Jane, Pascuzzi, Robert M, Babiar, Donna, Lin, Jiang, Querolt Coll, Montse, Griffin, Rhonda, Mondou, Elsa
المصدر: Neurology. 100(7)
مصطلحات موضوعية: Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Neurosciences, Autoimmune Disease, Clinical Research, Clinical Trials and Supportive Activities, Orphan Drug, Rare Diseases, Myasthenia Gravis, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Adult, Humans, Immunoglobulins, Intravenous, Double-Blind Method, Adrenal Cortex Hormones, Treatment Outcome, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7669q3s4Test
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3
المؤلفون: Meisel, Andreas, Baggi, Fulvio, Behin, Anthony, Evoli, Amelia, Kostera-Pruszczyk, Anna, Mantegazza, Renato, Morales, Raul Juntas, Rostedt Punga, Anna, Sacconi, Sabrina, Schroeter, Michael, Verschuuren, Jan, Crathorne, Louise, Holmes, Kris, Leite, Maria-Isabel
المصدر: European Journal of Neurology. 30(1):266-282
مصطلحات موضوعية: autoantibodies, biomarkers, myasthenia gravis
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-502446Test
https://doi.org/10.1111/ene.15565Test
https://uu.diva-portal.org/smash/get/diva2:1759406/FULLTEXT01.pdfTest -
4دورية أكاديمية
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
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5دورية أكاديمية
المؤلفون: Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-González, Cristina, Papadimas, George, Warman-Chardon, Jodi, Claeys, Kristl, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay, Nair, Sruthi, Manousakis, Georgios, Kushlaf, Hani, Harms, Matthew, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria, Lamont, Phillipa, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, Diaz-Manera, Jordi, Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia
مصطلحات موضوعية: FRONTOTEMPORAL DEMENTIA, GENETICS, INCL BODY MYOSITIS, MUSCLE DISEASE, MYOPATHY
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7934r86tTest
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6دورية أكاديمية
المؤلفون: Anna Łusakowska, Adrianna Wójcik, Anna Frączek, Karolina Aragon-Gawińska, Anna Potulska-Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, Krzysztof Milczarek, Dariusz Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz, Anna Kostera-Pruszczyk
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
مصطلحات موضوعية: Patient global impression – improvement, Computed tomography–guided lumbar puncture, Functional tests, Nusinersen, Scoliosis, SMN2 gene, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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7دورية أكاديمية
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
الإتاحة: https://doi.org/10.48350/19786710.1016/j.ejpn.2024.06.001Test
https://boris.unibe.ch/197867Test/ -
8دورية أكاديمية
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/
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9دورية أكاديمية
المؤلفون: Andrysiak, Kalina, Machaj, Gabriela, Priesmann, Dominik, Barczyk-Woźnicka, Olga, Martyniak, Alicja, Ylla Bou, Guillem, Krüger, Marcus, Pyza, Elżbieta, Potulska-Chromik, Anna, Kostera-Pruszczyk, Anna, Łoboda, Agnieszka, Stępniewski, Jacek, Dulak, Józef
مصطلحات موضوعية: DMD, induced pluripotent stem cells, hiPSC-CM, iron overload, cardiomyopathy, MitoNEET, CISD1, cardiomyocytes, Duchenne muscular dystrophy, deferoxamine, pioglitazone, CRISPR/Cas9
العلاقة: Cardiovascular Research, T. 120, nr 1, s. 69-81; https://ruj.uj.edu.pl/xmlui/handle/item/327806Test
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10دورية أكاديمية
المؤلفون: Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, the JEWELFISH Study Group
المصدر: Neurology and Therapy, Vol 12, Iss 2, Pp 543-557 (2023)
مصطلحات موضوعية: Evrysdi, Pharmacodynamics, Risdiplam, Safety, Spinal muscular atrophy, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource