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Pregled bibliografske jedinice broj: 731603

The TREAT-NMD Duchenne Muscular Dystrophy Registries : Conception, Design, and Utilization by Industry and Academia

Bladen, Catherine L.; Rafferty, Karen; Straub, Volker; Monges, Soledad; Moresc, Angélica; Daekins, Hugh; Roy, Anna; Chamova, Teodora; Guergueltcheva, Velina; Korngut, Lawrence et al.
The TREAT-NMD Duchenne Muscular Dystrophy Registries : Conception, Design, and Utilization by Industry and Academia // Human mutation, 34 (2013), 11; 1449-1457 doi:10.1002/humu.22390 (recenziran, članak, stručni)

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Naslov
The TREAT-NMD Duchenne Muscular Dystrophy Registries : Conception, Design, and Utilization by Industry and Academia

Autori
Bladen, Catherine L. ; Rafferty, Karen ; Straub, Volker ; Monges, Soledad ; Moresc, Angélica ; Daekins, Hugh ; Roy, Anna ; Chamova, Teodora ; Guergueltcheva, Velina ; Korngut, Lawrence ; Campbell, Craig ; Dai, Yi ; Barišić, Nina ; Kos, Tea ; Brabec, Petr ; Rahbek, Jes ; Lahdetiel, Jaana ; Tuffery-Giraud, Sylvie ; Claustres, Mireille ; Leturcq, France ; Yaou, Rabah Ben ; Walter, Maggie C. ; Schreiber, Olivia ; Karcagi, Veronika ; Herczegfalvis, Agnes ; Viswanathan, Venkatarman ; Bayat, Farhad ; Isis de la caridad Guerrero, Sarmiento ; Ambrosini, Anna ; Ceradini, Francesa ; Kimura, En ; Van den Bergen, Janneke C. ; Rodrigues, Miriam ; Roxburgh, Richard ; Lusakowska, Anna ; Oliveira, Jorge ; Santos, Rosário ; Neagu, Elena ; Butoianu, Niculina ; Artemieva, Svetlana ; Milic Rasic, Vedrana ; Posada, Manuel ; Palau, Frances ; Lindvall, Bjorn ; Bloetzer, Clame ; Karaduman, Ayse ; Topaloğlu, Haluk ; Inal, Serap ; Oflazer, Piraye ; Stringer, Angela ; Shatillo, Andri V ; Martin, Ana S ; Peay, Holly ; Flanigan, Kevin M ; Salgado, David ; Rekowski, Brigitta ; Lynn, Stephen ; Heslop, Emma ; Gainotti, Sabina ; Taruscio3, Domenica ; Kirschner, Jan ; Verschuuren, Jan ; Bushby, Kate ; Béroud ; Christophe ; Lochmüller, Hanns

Izvornik
Human mutation (1059-7794) 34 (2013), 11; 1449-1457

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni

Ključne riječi
Duchenne muscular dystrophy; TREAT NMD
(Duchenne muscular dystrophy; dystrophin; therapy; patient registries)

Sažetak
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence <5/10, 000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determine patient outcomes. TREAT-NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of TREAT-NMD. For the DMD registries within TREAT- NMD, individual countries have chosen to collect patient information in the form of standardized patient registries to increase the overall patient population on which clinical outcomes and new technologies can be assessed. The registries comprise more than 13, 500 patients from 31 different countries. Here, we describe how the TREAT-NMD national patient registries for DMD were established. We look at their continued growth and assess how successful they have been at fostering collaboration between academia, patient organizations, and industry.

Izvorni jezik
Engleski



POVEZANOST RADA

Profili:

Avatar Url Nina Barišić (autor)

Poveznice na cjeloviti tekst rada:

doi onlinelibrary.wiley.com

Citiraj ovu publikaciju:

Bladen, Catherine L.; Rafferty, Karen; Straub, Volker; Monges, Soledad; Moresc, Angélica; Daekins, Hugh; Roy, Anna; Chamova, Teodora; Guergueltcheva, Velina; Korngut, Lawrence et al.
The TREAT-NMD Duchenne Muscular Dystrophy Registries : Conception, Design, and Utilization by Industry and Academia // Human mutation, 34 (2013), 11; 1449-1457 doi:10.1002/humu.22390 (recenziran, članak, stručni)
Bladen, C., Rafferty, K., Straub, V., Monges, S., Moresc, A., Daekins, H., Roy, A., Chamova, T., Guergueltcheva, V. & Korngut, L. (2013) The TREAT-NMD Duchenne Muscular Dystrophy Registries : Conception, Design, and Utilization by Industry and Academia. Human mutation, 34 (11), 1449-1457 doi:10.1002/humu.22390.
@article{article, author = {Bladen, Catherine L. and Rafferty, Karen and Straub, Volker and Monges, Soledad and Moresc, Ang\'{e}lica and Daekins, Hugh and Roy, Anna and Chamova, Teodora and Guergueltcheva, Velina and Korngut, Lawrence and Campbell, Craig and Dai, Yi and Bari\v{s}i\'{c}, Nina and Kos, Tea and Brabec, Petr and Rahbek, Jes and Lahdetiel, Jaana and Tuffery-Giraud, Sylvie and Claustres, Mireille and Leturcq, France and Yaou, Rabah Ben and Walter, Maggie C. and Schreiber, Olivia and Karcagi, Veronika and Herczegfalvis, Agnes and Viswanathan, Venkatarman and Bayat, Farhad and Isis de la caridad Guerrero, Sarmiento and Ambrosini, Anna and Ceradini, Francesa and Kimura, En and Van den Bergen, Janneke C. and Rodrigues, Miriam and Roxburgh, Richard and Lusakowska, Anna and Oliveira, Jorge and Santos, Ros\'{a}rio and Neagu, Elena and Butoianu, Niculina and Artemieva, Svetlana and Milic Rasic, Vedrana and Posada, Manuel and Palau, Frances and Lindvall, Bjorn and Bloetzer, Clame and Karaduman, Ayse and Topalo\u{g}lu, Haluk and Inal, Serap and Oflazer, Piraye and Stringer, Angela and Shatillo, Andri V and Martin, Ana S and Peay, Holly and Flanigan, Kevin M and Salgado, David and Rekowski, Brigitta and Lynn, Stephen and Heslop, Emma and Gainotti, Sabina and Taruscio3, Domenica and Kirschner, Jan and Verschuuren, Jan and Bushby, Kate and Lochm\"{u}ller, Hanns}, year = {2013}, pages = {1449-1457}, DOI = {10.1002/humu.22390}, keywords = {Duchenne muscular dystrophy, TREAT NMD}, journal = {Human mutation}, doi = {10.1002/humu.22390}, volume = {34}, number = {11}, issn = {1059-7794}, title = {The TREAT-NMD Duchenne Muscular Dystrophy Registries : Conception, Design, and Utilization by Industry and Academia}, keyword = {Duchenne muscular dystrophy, TREAT NMD} }
@article{article, author = {Bladen, Catherine L. and Rafferty, Karen and Straub, Volker and Monges, Soledad and Moresc, Ang\'{e}lica and Daekins, Hugh and Roy, Anna and Chamova, Teodora and Guergueltcheva, Velina and Korngut, Lawrence and Campbell, Craig and Dai, Yi and Bari\v{s}i\'{c}, Nina and Kos, Tea and Brabec, Petr and Rahbek, Jes and Lahdetiel, Jaana and Tuffery-Giraud, Sylvie and Claustres, Mireille and Leturcq, France and Yaou, Rabah Ben and Walter, Maggie C. and Schreiber, Olivia and Karcagi, Veronika and Herczegfalvis, Agnes and Viswanathan, Venkatarman and Bayat, Farhad and Isis de la caridad Guerrero, Sarmiento and Ambrosini, Anna and Ceradini, Francesa and Kimura, En and Van den Bergen, Janneke C. and Rodrigues, Miriam and Roxburgh, Richard and Lusakowska, Anna and Oliveira, Jorge and Santos, Ros\'{a}rio and Neagu, Elena and Butoianu, Niculina and Artemieva, Svetlana and Milic Rasic, Vedrana and Posada, Manuel and Palau, Frances and Lindvall, Bjorn and Bloetzer, Clame and Karaduman, Ayse and Topalo\u{g}lu, Haluk and Inal, Serap and Oflazer, Piraye and Stringer, Angela and Shatillo, Andri V and Martin, Ana S and Peay, Holly and Flanigan, Kevin M and Salgado, David and Rekowski, Brigitta and Lynn, Stephen and Heslop, Emma and Gainotti, Sabina and Taruscio3, Domenica and Kirschner, Jan and Verschuuren, Jan and Bushby, Kate and Lochm\"{u}ller, Hanns}, year = {2013}, pages = {1449-1457}, DOI = {10.1002/humu.22390}, keywords = {Duchenne muscular dystrophy, dystrophin, therapy, patient registries}, journal = {Human mutation}, doi = {10.1002/humu.22390}, volume = {34}, number = {11}, issn = {1059-7794}, title = {The TREAT-NMD Duchenne Muscular Dystrophy Registries : Conception, Design, and Utilization by Industry and Academia}, keyword = {Duchenne muscular dystrophy, dystrophin, therapy, patient registries} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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