Art

J-GLOBAL ID：201902281643912485   Reference number：19A0790731

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

筋強直性ジストロフィー患者登録に関する国際ワークショップ後の8年間:稀な疾患に対する包括的協力の事例研究【JST・京大機械翻訳】

Author (40)： Wood Libby (Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK) ,  Bassez Guillaume (Centre de reference des maladies neuromusculaires, Hopital Henri Mondor, Paris, France) ,  Bleyenheuft Corinne (Scientific Institute of Public Health, Brussels, Belgium) ,  Campbell Craig (Western University, London, Canada) ,  Cossette Louise (Centre de recherche du CHU de Quebec, Universite Laval, Quebec, Canada) ,  Jimenez-Moreno Aura Cecilia (Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK) ,  Dai Yi (Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China) ,  Dawkins Hugh (Office of Population Health Genomics, Perth, Western Australia) ,  Manera Jorge Alberto Diaz (Neuromuscular disorders Unit, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain) ,  Dogan Celine (Centre de reference des maladies neuromusculaires, Hopital Henri Mondor, Paris, France) ,  Sherif Rasha el (Neuromuscular & Neuro-genetics Unit, Air Hospital, Cairo, Egypt) ,  Fossati Barbara (U.O. Neurology and Stroke Unit, IRCCS Policlinico San Donato, Milan, Italy) ,  Graham Caroline (Office of Population Health Genomics, Perth, Western Australia) ,  Hilbert James (Department of Neurology, University of Rochester Medical Center, Rochester, USA) ,  Kastreva Kristinia (Department of Neurology, Alexandrovska University Hospital, Medical University, Sofia, Bulgaria) ,  Kimura En (Department of Promoting Clinical Trial and Translational Medicine, National Center for Neurology and Psychiatry, Translational Medical Center, Kodaira, Japan) ,  Korngut Lawrence (University of Calgary, Calgary, Canada) ,  Kostera-Pruszczyk Anna (Department of Neurology, Medical University of Warsaw, Warszawa, Poland) ,  Lindberg Christopher (University Hospital OErebro, OErebro, Sweden) ,  Lindvall Bjorn (University Hospital OErebro, OErebro, Sweden) ,  Luebbe Elizabeth (Department of Neurology, University of Rochester Medical Center, Rochester, USA) ,  Lusakowska Anna (Department of Neurology, Medical University of Warsaw, Warszawa, Poland) ,  Mazanec Radim (University Hospital Prague- Motol and Charles University Prague, Prague, Czech Republic) ,  Meola Giovani (U.O. Neurology and Stroke Unit, IRCCS Policlinico San Donato, Milan, Italy) ,  Orlando Liannna (Muscular Dystrophy Association, Chicago, USA) ,  Takahashi Masanori P. (Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Suita, Japan) ,  Peric Stojan (Neurology Clinic, School of Medicine, University of Belgrade, Belgrade, Serbia) ,  Puymirat Jack (Centre de recherche du CHU de Quebec, Universite Laval, Quebec, Canada) ,  Rakocevic-Stojanovic Vidosava (Neurology Clinic, School of Medicine, University of Belgrade, Belgrade, Serbia) ,  Rodrigues Miriam (Neurology, Auckland City Hospital, Auckland, New Zealand) ,  Roxburgh Richard (Neurology, Auckland City Hospital, Auckland, New Zealand) ,  Schoser Benedikt (Friedrich-Baur-Institute, Department of Neurology, Klinikum Muenchen, Munich, Germany) ,  Segovia Sonia (Centro de Investigacion Biomedica en Red en Enfermedades Raras (CIBERER), Valencia, Spain) ,  Shatillo Andriy (Institute of Neurology, Psychiatry and Narcology, Academy of medical science of Ukraine, Kharkiv, Ukraine) ,  Thiele Simone (Friedrich-Baur-Institute, Department of Neurology, Klinikum Muenchen, Munich, Germany) ,  Tournev Ivailo (Department of Neurology, Alexandrovska University Hospital, Medical University, Sofia, Bulgaria) ,  Engelen Baziel van (Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands) ,  Vohanka Stanislav (University Hospital and Masaryk University Brno, Brno, Czech Republic) ,  Lochmueller Hanns (Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany) ,  Lochmueller Hanns (Centro Nacional de Analisis Genomico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain)
Material： Orphanet Journal of Rare Diseases (Web)
Volume： 13  Issue： 1  Page： 155  Publication year： 2018 
JST Material Number： U7532A  ISSN： 1750-1172  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Abstract/Point： Myotonic Dystrophy is the most...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=19A0790731&from=J-GLOBAL&jstjournalNo=U7532A") }}

Thesaurus term： voluntary workers ,  Data Collection ,  therapy ,  North America ,  license ,  Asia ,  community (group) ,  Europe ,  therapeutic planning ,  *case study ,  muscular dystrophy
Semi thesaurus term： 臨床医 ,  オンライン ,  Oceania ,  重症度 , 【Automatic Indexing@JST】

Author keywords (4)： Myotonic dystrophy ,  Registries ,  Clinical trials ,  Trial readiness

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J)

Reference (26)：

• Intern Med J; Rare disease registries: a call to action; P Lacaze, N Millis, M Fookes, Y Zurynski, A Jaffe, M Bellgard; 47; 9; 2017; 1075-1079; 10.1111/imj.13528; citation_id=CR1
• Early Hum Dev; The how (and why) of disease registers; A Mehta; 86; 11; 2010; 723-728; 10.1016/j.earlhumdev.2010.08.006; citation_id=CR2
• 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.
• Lancet; The case for a global rare-diseases registry; CB Forrest, RJ Bartek, Y Rubinstein, SC Groft; 377; 9771; 2011; 1057-1059; 10.1016/S0140-6736(10)60680-0; citation_id=CR4
• J Paediatr Child Health; Call for a national plan for rare diseases; A Jaffe, Y Zurynski, L Beville, E Elliott; 46; 1-2; 2010; 2-4; 10.1111/j.1440-1754.2009.01608.x; citation_id=CR5

Terms in the title (6)： 筋強直性ジストロフィー ,  患者登録 ,  ワークショップ ,  疾患 ,  協力 ,  研究