The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Autor: Bladen, Catherine, Salgado, David, Monges, Soledad, Foncuberta, Maria E, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna, Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lahdetie, Jaana, Walter, Maggie C, Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Kimura, En, Koeks, Zaïda, van den Bergen, Jan, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Jan, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Jeannet, Pierre-Yves, Joncourt, Franziska, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A Ayşe, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V, Martin, Ann S, Peay, Holly L, Bellgard, Matthew I, Kirschner, Jan, Flanigan, Kevin M, Straub, Volker, Bushby, Kate, Verschuuren, Jan, Aartsma-Rus, Annemieke, Béroud, Christophe, Lochmuller, Hanns, Foncuberta, Maria E., Walter, Maggie C., Karaduman, A. Ayşe, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Bellgard, Matthew I., Flanigan, Kevin M.

Publikováno v: Human Mutation
Human Mutation, Wiley, 2015, 36 (4), pp.395-402. ⟨10.1002/humu.22758⟩
Human mutation, vol. 36, no. 4, pp. 395-402
Bladen, Catherine L; Salgado, David; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lahdetie, Jaana; Walter, Maggie C; ... (2015). The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Human mutation, 36(4), pp. 395-402. Wiley-Blackwell 10.1002/humu.22758
Paediatrics Publications
Human Mutation, 36(4), 395-402
Human Mutation, 2015, 36 (4), pp.395-402. ⟨10.1002/humu.22758⟩

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_dedup___::96189d3d8ffce6386eb116f714ad246c
https://hdl.handle.net/1887/107191

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, Bloetzer, 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

Publikováno v: Journal of Neuromuscular Diseases; November 2017, Vol. 4 Issue: 4 p293-306, 14p

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

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.

Autor: Bladen CL; MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK., Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barišić N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloğlu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Béroud C, Lochmüller H

Publikováno v: Human mutation [Hum Mutat] 2013 Nov; Vol. 34 (11), pp. 1449-57. Date of Electronic Publication: 2013 Aug 26.