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

المصدر: The Lancet Regional Health. Europe, Vol 39, Iss , Pp 100862- (2024)

مصطلحات موضوعية: Antisense oligonucleotide, Intrathecal therapy, Motor neuron disease, Nusinersen, Spinal muscular atrophy, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666776224000280; https://doaj.org/toc/2666-7762

URL الوصول: https://doaj.org/article/290d74c1de7d42b58be5fe3b14b68827

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

المصدر: Therapeutic Advances in Neurological Disorders, Vol 16 (2023)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-2864

URL الوصول: https://doaj.org/article/4a9fe864b1bf46d29163534ad24ba1f0

المؤلفون: Afshin Saffari, Claire Cannet, Astrid Blaschek, Andreas Hahn, Georg F. Hoffmann, Jessika Johannsen, Romy Kirsten, Musa Kockaya, Stefan Kölker, Wolfgang Müller-Felber, Andreas Roos, Hartmut Schäfer, Ulrike Schara, Manfred Spraul, Friedrich K. Trefz, Katharina Vill, Wolfgang Wick, Markus Weiler, Jürgen G. Okun, Andreas Ziegler

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)

مصطلحات موضوعية: Spinal muscular atrophy, SMA, Metabolic profiling, 1H-nuclear magnetic resonance, NMR, Urinary fingerprints, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/d1420f1c464d4e51b184e3fd1fc57e55

المؤلفون: Katharina Vill, Oliver Schwartz, Astrid Blaschek, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Ludwig Czibere, Jürgen Durner, Katja Eggermann, Bernhard Olgemöller, Erik Harms, Ulrike Schara, Heike Kölbel, Wolfgang Müller-Felber

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/ee690e0ce35a4f75a8b638173e003c07

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

المصدر: Children, Vol 9, Iss 12, p 1829 (2022)

مصطلحات موضوعية: newborn screening, quality of life, disease burden, spinal muscular atrophy, care givers, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9067/9/12/1829; https://doaj.org/toc/2227-9067

URL الوصول: https://doaj.org/article/5dbf9efac73d4f5b800502edab140148

المؤلفون: Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Faycal Hentati, Maryam M. Hockley, Benedikt Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller-Felber, Ege Ozkan, Sergio Padilla-Lopez, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Zuchner, Michael C. Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/7bd71eb6cd81404fb55734268f8473e9

المؤلفون: Tobias Geis, Tanja Rödl, Haluk Topaloğlu, Burcu Balci-Hayta, Sophie Hinreiner, Wolfgang Müller-Felber, Benedikt Schoser, Yasmin Mehraein, Angela Hübner, Birgit Zirn, Markus Hoopmann, Heiko Reutter, David Mowat, Gerhard Schuierer, Ulrike Schara, Ute Hehr, Heike Kölbel

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-17 (2019)

مصطلحات موضوعية: POMT1, Dystroglycan, Walker-Warburg syndrome, Limb girdle muscular dystrophy, Muscle-eye-brain disease, Lissencephaly, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1119-0; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/6d36a41fe83e42eb90c37bc08b33293b

المؤلفون: Sven Dittrich, Erika Graf, Regina Trollmann, Ulrich Neudorf, Ulrike Schara, Antje Heilmann, Maja von der Hagen, Brigitte Stiller, Janbernd Kirschner, Robert Dalla Pozza, Wolfgang Müller-Felber, Katja Weiss, Katja von Au, Markus Khalil, Reinald Motz, Christoph Korenke, Martina Lange, Ekkehard Wilichowski, Joseph Pattathu, Friedrich Ebinger, Nicola Wiechmann, Rolf Schröder, on behalf of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network Investigators list of additional local Investigators and co-workers of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)

مصطلحات موضوعية: Duchenne muscular dystrophy, Cardiomyopathy, ACE-inhibitors, ß-blockers, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1066-9; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/2c488c5520894228869bcc736e4817ce

المؤلفون: Lukacs Zoltan, Paulina Nieves Cobos, Stephan Wenninger, Tracey A. Willis, Michela Guglieri, Marc Roberts, Rosaline Quinlivan, David Hilton-Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter-Weigel, Maggie C Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller-Felber, Benedikt Schoser

المصدر: Нервно-мышечные болезни, Vol 6, Iss 3, Pp 24-27 (2019)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/168; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/4ec0d1645281460598905760d4b17f8a

المؤلفون: Claas H. Hinze, Prasad T. Oommen, Frank Dressler, Andreas Urban, Frank Weller-Heinemann, Fabian Speth, Elke Lainka, Jürgen Brunner, Heike Fesq, Dirk Foell, Wolfgang Müller-Felber, Ulrich Neudorf, Christoph Rietschel, Tobias Schwarz, Ulrike Schara, Johannes-Peter Haas

المصدر: Pediatric Rheumatology Online Journal, Vol 16, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: Dermatomyositis, Child, Consensus, Diagnosis, Antirheumatic agents, Comparative effectiveness research, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12969-018-0257-6; https://doaj.org/toc/1546-0096

URL الوصول: https://doaj.org/article/b9db04a85f274305a15ce4e6ffeebd37