المؤلفون: Günther, René, Wurster, Claudia Diana, Brakemeier, Svenja, Osmanovic, Alma, Schreiber-Katz, Olivia, Petri, Susanne, Uzelac, Zeljko, Hiebeler, Miriam, Thiele, Simone, Walter, Maggie C., Weiler, Markus, Kessler, Tobias, Freigang, Maren, Lapp, Hanna Sophie, Cordts, Isabell, Lingor, Paul, Deschauer, Marcus, Hahn, Andreas, Martakis, Kyriakos, Steinbach, Robert, Ilse, Benjamin, Rödiger, Annekathrin, Bellut, Julia, Nentwich, Julia, Zeller, Daniel, Muhandes, Mohamad Tareq, Baum, Tobias, Christoph Koch, Jan, Schrank, Bertold, Fischer, Sophie, Hermann, Andreas, Kamm, Christoph, Naegel, Steffen, Mensch, Alexander, Weber, Markus, Neuwirth, Christoph, Lehmann, Helmar C., Wunderlich, Gilbert, Stadler, Christian, Tomforde, Maike, George, Annette, Groß, Martin, Pechmann, Astrid, Kirschner, Janbernd, Türk, Matthias, Schimmel, Mareike, Bernert, Günther, Martin, Pascal, Rauscher, Christian, Meyer zu Hörste, Gerd, Baum, Petra, Löscher, Wolfgang, Flotats-Bastardas, Marina, Köhler, Cornelia, Probst-Schendzielorz, Kristina, Goldbach, Susanne, Schara-Schmidt, Ulrike, Müller-Felber, Wolfgang, Lochmüller, Hanns, von Velsen, Otgonzul, Kleinschnitz, Christoph, Ludolph, Albert C., Hagenacker, Tim

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

العلاقة: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/111464Test; urn:nbn:de:bvb:384-opus4-1114646; https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-1114646Test; https://doi.org/10.1016/j.lanepe.2024.100862Test; https://opus.bibliothek.uni-augsburg.de/opus4/files/111464/1-s2.0-S2666776224000280-main.pdfTest

الإتاحة: https://doi.org/10.1016/j.lanepe.2024.100862Test
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/111464Test
https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-1114646Test
https://opus.bibliothek.uni-augsburg.de/opus4/files/111464/1-s2.0-S2666776224000280-main.pdfTest

المؤلفون: Kölbel, Heike, Kopka, Marius, Modler, Laura, Blaschek, Astrid, Schara-Schmidt, Ulrike, Vill, Katharina, Schwartz, Oliver, Müller-Felber, Wolfgang

مصطلحات موضوعية: ScholarlyArticle, ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » Center for Translational Neuro- and Behavioral Science (C-TNBS), Medizinische Fakultät » Universitätsklinikum Essen » Zentrum für Kinder- und Jugendmedizin » Klinik für Kinderheilkunde I/Perinatalzentrum, Cognitive development -- SMN protein -- newborn screening -- spinal muscular atrophy -- BSID-III

العلاقة: https://doi.org/10.3233/JND-230136Test; https://nbn-resolving.org/urn:nbn:de:hbz:465-20240424-160413-6Test; https://duepublico2.uni-due.de/receive/duepublico_mods_00079254Test; https://duepublico2.uni-due.de/servlets/MCRFileNodeServlet/duepublico_derivate_00081413/jnd_2024_11_1_143.pdfTest

الإتاحة: https://doi.org/10.3233/JND-230136Test
https://nbn-resolving.org/urn:nbn:de:hbz:465-20240424-160413-6Test
https://duepublico2.uni-due.de/receive/duepublico_mods_00079254Test
https://duepublico2.uni-due.de/servlets/MCRFileNodeServlet/duepublico_derivate_00081413/jnd_2024_11_1_143.pdfTest

المؤلفون: Iruzubieta, Pablo, Damborenea, Alberto, Ioghen, Mihaela, Bajew, Simon, Fernandez-Torrón, Roberto, Töpf, Ana, Herrero-Reiriz, Álvaro, Epure, Diana, Vill, Katharina, Hernández-Laín, Aurelio, Manterola, María, Azkargorta, Mikel, Pikatza-Menoio, Oihane, Pérez-Fernandez, Laura, García-Puga, Mikel, Gaina, Gisela, Bastian, Alexandra, Streata, Ioana, Walter, Maggie C, Müller-Felber, Wolfgang, Thiele, Simone, Moragón, Saioa, Bastida-Lertxundi, Nerea, López-Cortajarena, Aitziber, Elortza, Felix, Gereñu, Gorka, Alonso-Martin, Sonia, Straub, Volker, de Sancho, David, Teleanu, Raluca, López de Munain, Adolfo, Blázquez, Lorea

المصدر: Brain ; ISSN 0006-8950 1460-2156

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1093/brain/awae046Test

المؤلفون: Lawlor, Michael W., Schoser, Benedikt, Margeta, Marta, Sewry, Caroline A., Jones, Karra A., Shieh, Perry B., Kuntz, Nancy L., Smith, Barbara K., Dowling, James J., Müller-Felber, Wolfgang, Bönnemann, Carsten G., Seferian, Andreea M., Blaschek, Astrid, Neuhaus, Sarah, Foley, A. Reghan, Saade, Dimah N., Tsuchiya, Etsuko, Qasim, Ummulwara R., Beatka, Margaret, Prom, Mariah J., Ott, Emily, Danielson, Susan, Krakau, Paul, Kumar, Suresh N., Meng, Hui, Vanden Avond, Mark, Wells, Clive, Gordish-Dressman, Heather, Beggs, Alan H., Christensen, Sarah, Conner, Edward, James, Emma S., Lee, Jun, Sadhu, Chanchal, Miller, Weston, Sepulveda, Bryan, Varfaj, Fatbardha, Prasad, Suyash, Rico, Salvador

المصدر: eBioMedicine ; volume 99, page 104894 ; ISSN 2352-3964

مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1016/j.ebiom.2023.104894Test
https://api.elsevier.com/content/article/PII:S2352396423004607?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2352396423004607?httpAccept=text/plainTest

المؤلفون: Lee Sweeney, H, Finanger, Erika, Neil Knierbein, Erin, Wagner, Kathryn, Mathews, Katherine, Marks, Warren, Statland, Jeffrey, Nance, Jessica, McMillan, Hugh, McCullagh, Gary, Tian, Cuixia, Ryan, Monique, ORourke, Declan, Müller-Felber, Wolfgang, Tulinius, Mar, Burnette, W, Nguyen, Cam-Tu, Vijayakumar, Kayal, Johannsen, Jessika, Phan, Han, Eagle, Michelle, MacDougall, James, Mancini, Maria, Donovan, Joanne, Finkel, Richard, McDonald, Craig

المصدر: Journal of Neuromuscular Diseases. 8(5)

مصطلحات موضوعية: CAT-1004, Duchenne muscular dystrophy, NF-κB, age effects, edasalonexent, Administration, Oral, Arachidonic Acids, Child, Child, Preschool, Double-Blind Method, Humans, Male, Muscular Dystrophy, Duchenne, NF-kappa B, Salicylamides

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1zj592rqTest

المؤلفون: Kirk, Kennedy, Michael, Lawlor, Shieh, Perry, Bonnemann, Carsten, Müller-Felber, Wolfgang, Kuntz, Nancy, Miller, Weston

المصدر: SBN Conference 2022 ; Arquivos de Neuro-Psiquiatria ; ISSN 1678-4227

الإتاحة: https://doi.org/10.1055/s-0043-1774423Test

المؤلفون: Müller-Felber, Wolfgang, Blaschek, Astrid, Pechmann, Astrid, Kirschner, Janbernd, Vill, Katharina

المصدر: Journal of neuromuscular diseases. - 10, 1 (2023) , 55-65, ISSN: 2214-3602

وصف الملف: pdf

العلاقة: https://freidok.uni-freiburg.de/data/231977Test

الإتاحة: https://doi.org/10.3233/jnd-221577Test
https://freidok.uni-freiburg.de/data/231977Test
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2319774Test
https://freidok.uni-freiburg.de/dnb/download/231977Test

المؤلفون: Wiendl, Heinz, Abicht, Angela, Chan, Andrew, Della Marina, Adela, Hagenacker, Tim, Hekmat, Khosro, Hoffmann, Sarah, Hoffmann, Hans-Stefan, Jander, Sebastian, Keller, Christian, Marx, Alexander, Melms, Arthur, Melzer, Nico, Müller-Felber, Wolfgang, Pawlitzki, Marc, Rückert, Jens-Carsten, Schneider-Gold, Christiane, Schoser, Benedikt, Schreiner, Bettina, Schroeter, Michael, Schubert, Bettina, Sieb, Jörn-Peter, Zimprich, Fritz, Meisel, Andreas

المصدر: Wiendl, Heinz; Abicht, Angela; Chan, Andrew; Della Marina, Adela; Hagenacker, Tim; Hekmat, Khosro; Hoffmann, Sarah; Hoffmann, Hans-Stefan; Jander, Sebastian; Keller, Christian; Marx, Alexander; Melms, Arthur; Melzer, Nico; Müller-Felber, Wolfgang; Pawlitzki, Marc; Rückert, Jens-Carsten; Schneider-Gold, Christiane; Schoser, Benedikt; Schreiner, Bettina; Schroeter, Michael; . (2023). Guideline for the management of myasthenic syndromes. Therapeutic advances in neurological disorders, 16(17562864231213240), p. 17562864231213240. Sage 10.1177/17562864231213240

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/190903Test/

الإتاحة: https://doi.org/10.1177/17562864231213240Test
https://boris.unibe.ch/190903/1/wiendl-et-al-2023-guideline-for-the-management-of-myasthenic-syndromes.pdfTest
https://boris.unibe.ch/190903Test/

المؤلفون: Lischka, Annette, Eggermann, Katja, Record, Christopher J., Dohrn, Maike F., Laššuthová, Petra, Kraft, Florian, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas, Beijer, Danique, Šoukalová, Jana, Laura, Matilde, Rossor, Alexander M., Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J., Ungelenk, Martin, Debus, Karlien Y., Feely, Shawna M.E., Gläser, Dieter, Jagadeesh, Sujatha, Martin, Madelena, Govindaraj, Geeta M., Singhi, Pratibha, Baineni, Revanth, Biswal, Niranjan, Ibarra-Ramírez, Marisol, Bonduelle, Maryse, Gess, Burkhard, Sánchez, Juan Romero, Suthar, Renu, Udani, Vrajesh, Nalini, Atchayaram, Unnikrishnan, Gopikrishnan, Junior, Wilson Marques, Mercier, Sandra, Procaccio, Vincent, Bris, Céline, Suresh, Beena, Reddy, Vaishnavi, Skorupinska, Mariola, Bonello-Palot, Nathalie, Mochel, Fanny, Dahl, Georg, Sasidharan, Karthika, Devassikutty, Fiji M., Nampoothiri, Sheela, Doriqui, Maria J Rodovalho, Müller-Felber, Wolfgang, Vill, Katharina, Haack, Tobias B., Dufke, Andreas, Abele, Michael, Stucka, Rolf, Siddiqi, Saima, Ullah, Noor, Spranger, Stephanie, Chiabrando, Deborah, Bolgül, Behiye S, Parman, Yesim, Seeman, Pavel, Lampert, Angelika, Schulz, Jörg B., Wood, John N., Cox, James J., Auer-Grumbach, Michaela, Timmerman, Vincent, De Winter, Jonathan, Themistocleous, Andreas C., Shy, Michael, Bennett, David L., Baets, Jonathan, Hübner, Christian A., Leipold, Enrico, Züchner, Stephan, Elbracht, Miriam, Çakar, Arman, Senderek, Jan, Hornemann, Thorsten, Woods, C. Geoffrey, Reilly, Mary M., Kurth, Ingo

المصدر: 0006-8950 ; Brain

مصطلحات موضوعية: Human medicine

العلاقة: info:eu-repo/semantics/altIdentifier/isi/001098172300001

الإتاحة: https://doi.org/10.1093/BRAIN/AWAD328Test
https://hdl.handle.net/10067/1997040151162165141Test
https://repository.uantwerpen.be/docstore/d:irua:20965Test

المؤلفون: Shieh, Perry B, Kuntz, Nancy L, Dowling, James J, Müller-Felber, Wolfgang, Bönnemann, Carsten G, Seferian, Andreea M, Servais, Laurent, Smith, Barbara K, Muntoni, Francesco, Blaschek, Astrid, Foley, A Reghan, Saade, Dimah N, Neuhaus, Sarah, Alfano, Lindsay N, Beggs, Alan H, Buj-Bello, Ana, Childers, Martin K, Duong, Tina, Graham, Robert J, Jain, Minal, Coats, Julie, MacBean, Vicky, James, Emma S, Lee, Jun, Mavilio, Fulvio, Miller, Weston, Varfaj, Fatbardha, Murtagh, Michael, Han, Cong, Noursalehi, Mojtaba, Lawlor, Michael W, Prasad, Suyash, Rico, Salvador

المصدر: The Lancet Neurology , 22 (12) pp. 1125-1139. (2023)

مصطلحات موضوعية: Male, Child, Humans, Infant, Preschool, France, Genetic Therapy, Myopathies, Structural, Congenital, Sepsis, Germany, Treatment Outcome

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10182401/1/PIIS1474442223003137.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10182401Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10182401/1/PIIS1474442223003137.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10182401Test/