Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease-Reference-Cited by-同舟云学术

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Published:2018-09-05 Issue:1 Volume:13 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Wood Libby,Bassez Guillaume,Bleyenheuft Corinne,Campbell Craig,Cossette Louise,Jimenez-Moreno Aura Cecilia,Dai Yi,Dawkins Hugh,Manera Jorge Alberto Diaz,Dogan Celine,el Sherif Rasha,Fossati Barbara,Graham Caroline,Hilbert James,Kastreva Kristinia,Kimura En,Korngut Lawrence,Kostera-Pruszczyk Anna,Lindberg Christopher,Lindvall Bjorn,Luebbe Elizabeth,Lusakowska Anna,Mazanec Radim,Meola Giovani,Orlando Liannna,Takahashi Masanori P.,Peric Stojan,Puymirat Jack,Rakocevic-Stojanovic Vidosava,Rodrigues Miriam,Roxburgh Richard,Schoser Benedikt,Segovia Sonia,Shatillo Andriy,Thiele Simone,Tournev Ivailo,van Engelen Baziel,Vohanka Stanislav,Lochmüller Hanns

Funder

Marigold Foundation

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-018-0889-0.pdf

Reference26 articles.

1. Lacaze P, Millis N, Fookes M, Zurynski Y, Jaffe A, Bellgard M, et al. Rare disease registries: a call to action. Intern Med J. 2017;47(9):1075–9.

2. Mehta A. The how (and why) of disease registers. Early Hum Dev. 2010;86(11):723–8.

3. Europe ERD. EURORDIS' Position on rare disease researcg 2010 [Available from: https://www.eurodis.org/sites/default/files/EURORDIS_Rapport_Research_2012.pdf . Accessed 28 July 2018.

4. Forrest CB, Bartek RJ, Rubinstein Y, Groft SC. The case for a global rare-diseases registry. Lancet. 2011;377(9771):1057–9.

5. Jaffe A, Zurynski Y, Beville L, Elliott E. Call for a national plan for rare diseases. J Paediatr Child Health. 2010;46(1–2):2–4.

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