Zobrazeno 1 - 10
of 278
pro vyhledávání: '"Maggie C Walter"'
Autor:
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
Publikováno v:
Нервно-мышечные болезни, Vol 6, Iss 3, Pp 24-27 (2019)
Externí odkaz:
https://doaj.org/article/4ec0d1645281460598905760d4b17f8a
Autor:
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
Publikováno v:
The Lancet Regional Health. Europe, Vol 39, Iss , Pp 100862- (2024)
Summary: Background: Evidence for the efficacy of nusinersen in adults with 5q-associated spinal muscular atrophy (SMA) has been demonstrated up to a period of 16 months in relatively large cohorts but whereas patients reach a plateau over time is st
Externí odkaz:
https://doaj.org/article/290d74c1de7d42b58be5fe3b14b68827
Autor:
Johann Böhm, Nasim Vasli, Edoardo Malfatti, Stéphanie Le Gras, Claire Feger, Bernard Jost, Nicole Monnier, Julie Brocard, Hatice Karasoy, Marion Gérard, Maggie C Walter, Peter Reilich, Valérie Biancalana, Christine Kretz, Nadia Messaddeq, Isabelle Marty, Joël Lunardi, Norma B Romero, Jocelyn Laporte
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e67527 (2013)
Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present
Externí odkaz:
https://doaj.org/article/4268020b6e314b6bb352ee894f5501ad
Autor:
Elizabeth Stevens, Silvia Torelli, Lucy Feng, Rahul Phadke, Maggie C Walter, Peter Schneiderat, Ayad Eddaoudi, Caroline A Sewry, Francesco Muntoni
Publikováno v:
PLoS ONE, Vol 8, Iss 7, p e68958 (2013)
α-dystroglycan (α-DG) is a peripheral membrane protein that is an integral component of the dystrophin-glycoprotein complex. In an inherited subset of muscular dystrophies known as dystroglycanopathies, α-DG has reduced glycosylation which results
Externí odkaz:
https://doaj.org/article/e90559cb953646f5b300ec443ce0bf81
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-15 (2023)
Abstract Background Inclusion body myositis (IBM) is the most frequent type of myositis in elder patients with a slow chronic progression and refractory to treatment. Previous cost of illness (COI) studies in IBM used claims data to estimate direct c
Externí odkaz:
https://doaj.org/article/b8de615f962b45edb14cb72f85d72381
Autor:
Katja C. Senn, Simone Thiele, Laura Gumbert, Sabine Krause, Maggie C. Walter, Klaus H. Nagels
Publikováno v:
Health and Quality of Life Outcomes, Vol 21, Iss 1, Pp 1-11 (2023)
Abstract Background To understand the health-related quality of life (HRQoL) in inclusion body myositis (IBM) from a holistic perspective on the background of a complex care situation. The focus was on how the patient journey may be structured over t
Externí odkaz:
https://doaj.org/article/53e5a4b74c7f47b5b60241d845e44125
Autor:
Shahram Attarian, Peter Young, Thomas H. Brannagan, David Adams, Philip Van Damme, Florian P. Thomas, Carlos Casanovas, Jafar Kafaie, Céline Tard, Maggie C. Walter, Yann Péréon, David Walk, Amro Stino, Marianne de Visser, Camiel Verhamme, Anthony Amato, Gregory Carter, Laurent Magy, Jeffrey M. Statland, Kevin Felice
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/667ec559a27c41e486ae7d0fb0dca401
Autor:
Christopher T. Esapa, R. A. Jeffrey McIlhinney, Adrian J. Waite, Matthew A. Benson, Jasmin Mirzayan, Henriett Piko, Ágnes Herczegfalvi, Rita Horvath, Veronika Karcagi, Maggie C. Walter, Hanns Lochmüller, Pierre J. Rizkallah, Qi L. Lu, Derek J. Blake
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
Fukutin-related protein (FKRP, MIM ID 606596) variants cause a range of muscular dystrophies associated with hypo-glycosylation of the matrix receptor, α-dystroglycan. These disorders are almost exclusively caused by homozygous or compound heterozyg
Externí odkaz:
https://doaj.org/article/35da4e2141714c0fa0e8671065cea821
Autor:
Berenike Leibrock, Erik Landfeldt, Justine Hussong, Tabea Huelle, Hannah Mattheus, Simone Thiele, Maggie C. Walter, Michael Zemlin, Eva Moehler, Ullrich Dillman, Sophia Abner, Marina Flotats-Bastardas
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Management and treatment of spinal muscular atrophy (SMA) has changed in recent years due to the introduction of novel transformative and potentially curative therapies resulting in the emergence of new disease phenotypes. Yet, li
Externí odkaz:
https://doaj.org/article/3e8f7a0268f54429bfe7482d823e1c97
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)
Abstract Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder manifesting in early childhood with progressive muscular weakness and atrophy, and resulting in early loss of ambulation. The collection and evaluation of epidemiological data
Externí odkaz:
https://doaj.org/article/a3c9ca1f569a4a0f96fb71aeba124e3c