Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Roy, Anna J"'
1
Akademický článek
How robust is ACTIVLIM for the follow-up of activity limitations in patients with neuromuscular diseases?
Autor: Batcho, Charles Sèbiyo a, b, c, Van den Bergh, Peter Y.K. a, d, e, Van Damme, Philip e, f, g, Roy, Anna J. h, Thonnard, Jean-Louis a, i, Penta, Massimo a, b, *
Publikováno v: In Neuromuscular Disorders March 2016 26(3):211-220
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2
Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR)
Autor: Roy, Anna J, Van den Bergh, Peter, Van Damme, Philip, Doggen, Kris, Van Casteren, Viviane, BNMDR Scientific Committee, the, De Bleecker, Jan, Van Coster, Rudy
Publikováno v: Acta Neurologica Belgica, Vol. 115, no. 2, p. 97-104 (2014)
Acta Neurologica Belgica
ACTA NEUROLOGICA BELGICA
The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients. This paper presents a clear outline of the s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56e2b3b8e0deef7fb3ca04f4f872a4e5
https://hdl.handle.net/2078.1/157218
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3
Akademický článek
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4
Akademický článek
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6
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Autor: Koeks, Zaïda, Bladen, Catherine L, Salgado, David, Van Zwet, Erik, Pogoryelova, Oksana, McMacken, Grace, Monges, Soledad, Foncuberta, Maria E, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Bellgard, Matthew I, Roy, Anna J, Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lähdetie, Jaana, Walter, Maggie C, Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Ferlini, Alessandra, Kimura, En, Van Den Bergen, Janneke C, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Blötzer, Clemens, Klein, Andrea, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A Ayşe, Oznur, Tunca, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V, Martin, Ann S, Peay, Holly L, Kirschner, Jan, Flanigan, Kevin M, Straub, Volker, Bushby, Kate, Béroud, Christophe, Verschuuren, Jan J, Lochmüller, Hanns
BACKGROUND Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable data is requ
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4b4ac1ecfa325c52302eb3eed9daf197
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7
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations
Autor: Guergueltcheva, Velina, Chamova, Teodora, Bellgard, Matthew I, Vojinovic, Dina, Straub, Volker, Bloetzer, Clemens, Rasic, Vedrana Milic, Kostera-Pruszczyk, Anna, Dai, Yi, Koeks, Zaïda, El Sherif, Rasha, Neagu, Elena, Dawkins, Hugh, Lamont, Leanne, Campbell, Craig, Walter, Maggie C, Zimowski, Janusz, Santos, Rosário, Korngut, Lawrence, Artemieva, Svetlana, Barišić, Nina, Karaduman, A Ayşe, Kirschner, Jan, Jeannet, Pierre-Yves, Karcagi, Veronika, Roy, Anna J, Peay, Holly L, Lahdetie, Jaana, Van Den Bergen, Janneke C, Díaz-Manera, Jordi, Bayat, Farhad, Kekou, Kyriaki, Chan, Sophelia, Kimura, En, Topaloğlu, Haluk, Joncourt, Franziska, Gallardo, Eduard, Salgado, David, Monges, Soledad, Kosma, Konstantina, Posada, Manuel, Rodrigues, Miriam, Stringer, Angela, Foncuberta, Maria E, Béroud, Christophe, Martin, Ann S, Bushby, Kate, Buccella, Filippo, Aartsma-Rus, Annemieke, Wang, Jen, Schreiber-Katz, Olivia, Roxburgh, Richard, Verschuuren, Jan, Lusakowska, Anna, Garami, Marta, Bladen, Catherine L, Flanigan, Kevin M, Brabec, Petr, Viswanathan, Venkatarman, Shatillo, Andriy V, Lochmüller, Hanns
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4e07f74b617c9c10d83be7b9fdfe1f0e
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8
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Autor: Alessandra Ferlini, David Salgado, Velina Guergueltcheva, Olivia Schreiber-Katz, Zaïda Koeks, Grace McMacken, Hugh Dawkins, Jan Kirschner, Angela Stringer, Vedrana Milic Rasic, Teodora Chamova, Sophelia H. S. Chan, Hanns Lochmüller, Lawrence Korngut, Jan J.G.M. Verschuuren, Maggie C. Walter, Clemens Bloetzer, Jordi Díaz-Manera, Veronika Karcagi, Nina Barišić, Tunca Oznur, Andriy V. Shatillo, Ann Martin, Rasha El Sherif, Yi Dai, Kyriaki Kekou, Jaana Lahdetie, Andrea Klein, Rosário Santos, Holly L. Peay, Haluk Topaloglu, Elena Neagu, Maria E. Foncuberta, Richard Roxburgh, Kevin M. Flanigan, Miriam Rodrigues, Kate Bushby, Farhad Bayat, Petr Brabec, Christophe Béroud, Catherine L. Bladen, Jen Wang, Matthew I. Bellgard, Venkatarman Viswanathan, Svetlana Artemieva, Anna Lusakowska, Konstantina Kosma, Manuel Posada, Agnes Herczegfalvi, Soledad Monges, Anna Kostera-Pruszczyk, Dina Vojinovic, Volker Straub, Anna J. Roy, En Kimura, Janneke C. van den Bergen, Filippo Buccella, Leanne Lamont, Erik W. van Zwet, Craig Campbell, Oksana Pogoryelova, Eduard Gallardo, Marta Garami, Ayşe Karaduman
Publikováno v: Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, IOS Press, 2017, 4 (4), pp.293-306. ⟨10.3233/JND-170280⟩
Journal of Neuromuscular Diseases, 2017, 4 (4), pp.293-306. ⟨10.3233/JND-170280⟩
Journal of neuromuscular diseases, vol. 4, no. 4, pp. 293-306
Koeks, Zaïda; Bladen, Catherine L; Salgado, David; van Zwet, Erik; Pogoryelova, Oksana; McMacken, Grace; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Bellgard, Matthew I; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; ... (2017). Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. Journal of neuromuscular diseases, 4(4), pp. 293-306. IOS Press 10.3233/JND-170280
Paediatrics Publications
Background: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable data is req
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::649eb05eacc507eb3dd6be6b40bd7e5b
https://hdl.handle.net/20.500.12105/15573
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