The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia-Reference-Cited by-同舟云学术

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

Published:2013-08-26 Issue:11 Volume:34 Page:1449-1457
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bladen Catherine L.¹,Rafferty Karen¹,Straub Volker¹,Monges Soledad²,Moresco Angélica²,Dawkins Hugh³,Roy Anna⁴,Chamova Teodora⁵,Guergueltcheva Velina⁵,Korngut Lawrence⁶,Campbell Craig⁷,Dai Yi⁸,Barišić Nina⁹,Kos Tea⁹,Brabec Petr¹⁰,Rahbek Jes¹¹,Lahdetie Jaana¹²,Tuffery-Giraud Sylvie¹³,Claustres Mireille¹³,Leturcq France¹⁴,Ben Yaou Rabah¹⁴,Walter Maggie C.¹⁵,Schreiber Olivia¹⁵,Karcagi Veronika¹⁶,Herczegfalvi Agnes¹⁶,Viswanathan Venkatarman¹⁷,Bayat Farhad¹⁸,de la caridad Guerrero Sarmiento Isis¹⁸,Ambrosini Anna¹⁹,Ceradini Francesca²⁰,Kimura En²¹,van den Bergen Janneke C.²²,Rodrigues Miriam²³,Roxburgh Richard²³,Lusakowska Anna²⁴,Oliveira Jorge²⁵,Santos Rosário²⁵,Neagu Elena²⁶,Butoianu Niculina²⁶,Artemieva Svetlana²⁷,Rasic Vedrana Milic²⁸,Posada Manuel²⁹,Palau Francesc³⁰,Lindvall Björn³¹,Bloetzer Clemens³²,Karaduman Ayşe³³,Topaloğlu Haluk³³,Inal Serap³⁴,Oflazer Piraye³⁴,Stringer Angela³⁵,Shatillo Andriy V.³⁶,Martin Ann S.³⁷,Peay Holly³⁷,Flanigan Kevin M.³⁸,Salgado David³⁹⁴⁰,von Rekowski Brigitta¹,Lynn Stephen¹,Heslop Emma¹,Gainotti Sabina⁴¹,Taruscio Domenica⁴¹,Kirschner Jan⁴²,Verschuuren Jan²²,Bushby Kate¹,Béroud Christophe³⁹,Lochmüller Hanns¹

Affiliation:

1. MRC Centre for Neuromuscular Diseases at Newcastle; Institute of Genetic Medicine, Newcastle upon Tyne; UK

2. Hospital Pediatría J. P. Garrahan; Argentina

3. Office of Population Health Genomics; Department of Health; 189 Royal Street Level 3C Western Australia Australia

4. WIV-ISP; Brussels Belgium

5. Department of Neurology; Medical University-Sofia; Sofia Bulgaria

6. University of Calgary, Health Sciences Centre; NW Calgary; Alberta Canada

7. Department of Paediatrics, Clinical Neurological Sciences and Epidemiology; Western University, London; Ontario Canada

8. Department of Neurology, Peking Union Medical College Hospital; Peking Union Medical College and Chinese Academy of Medical Sciences; Beijing China

9. Division of Paediatric Neurology; University Hospital Centre Zagreb (KBC Zagreb), University of Zagreb Medical School; Zagreb Croatia

10. Institute for Biostatistics and Analyses; Masaryk University; Brno Czech Republic

11. National Danish Rehabilitation Centre for Neuromuscular Diseases; Aarhus Denmark

12. Turku University Central Hospital; Turku Finland

13. Laboratoire de Génétique de Maladies Rares; Université Montpellier 1 and Inserm U827; Montpellier France

14. Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin; Paris France

15. Friedrich-Baur-Institute, Department of Neurology; Ludwig-Maximilians-University of Munich; Munich Germany

16. NIEH, Molecular Genetic Department; Budapest Hungary

17. Kanchi Kamakoti CHILDS Trust Hospital; Nungambakkam; Chennai India

18. Pasteur Institute of Iran; Karaj Complex; Tehran Iran

19. Fondazione Telethon-Piazza Cavour 1; Milan Italy

20. Parent Project Onlus; Via Aurelia 1299 Roma Italy

21. Translational Medical Centre; National Centre of Neurology and Psychiatry; 4-1-1 Ogawa-Higashi, Kodaira Tokyo 187-8551 Japan

22. Leiden University Medical Center; Department of Neurology; ZA Leiden The Netherlands

23. Neurology; Auckland City Hospital; Auckland New Zealand

24. Department of Neurology; Warszawa Banacha 1a; Poland

25. Centro de Genética Médica Jacinto Magalhães; Porto Portugal

26. Pediatric Neurology Department; Hospital Al. Obregia; Bucharest Romania

27. Rublevskoe shosse; Moscow Russia

28. Clinic for Child Neurology and Psychiatry; Belgrade Serbia

29. Institute of Rare Diseases Research; Institute of Health Carlos III; Madrid Spain

30. Unit of Genetics; Hospital la Fe; Valencia Spain

31. Muskelcentrum; Dep of Neurology; USÖ Örebro Sweden

32. Paediatric Neurology and Neurorehabilitation Unit; Lausanne University Hospital; Lausanne Switzerland

33. Hacettepe University Faculty of Health Sciences Department of Physiotherapy and Rehabilitation; Altındağ Ankara Turkey

34. Istanbul University Faculty of Medicine; Neurology Department; PTR Unit, Istanbul Turkey

35. Action Duchenne; Epicentre; London UK

36. Institute of Neurology; Psychiatry and Narcology of NAMS; Kharkiv Ukraine

37. DuchenneConnect; Hackensack New Jersey

38. The Ohio State University; and Nationwide Children's Hospital; Columbus Ohio

39. INSERM UMR_S910; Aix-Marseille UniversitéFaculté de Médecine La Timone; Marseille Cedex France

40. Australian Regenerative Medicine Institute; EMBL-Australia, Monash University, Clayton Campus

41. National Centre for Rare Diseases; Istituto Superiore di Sanità; Rome Italy

42. University Medical Center; Freiburg Germany

Funder

European Commission and TREAT-NMD

AFM (Association Francais contre les Myopathies)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations;Aartsma-Rus;Hum Mutat,2009

2. The structural and functional diversity of dystrophin;Ahn;Nat Genet,1993

3. Treatment of the heart in Duchenne muscular dystrophy;Baxter;Dev Med Child Neurol,2006

4. Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy;Beroud;Hum Mutat,2007

5. Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative registry approach;Brabec;Neuromuscul Disord,2009

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