The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations-Reference-Cited by-同舟云学术

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

Published:2015-03-17 Issue:4 Volume:36 Page:395-402
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bladen Catherine L.¹,Salgado David²,Monges Soledad³,Foncuberta Maria E.³,Kekou Kyriaki⁴,Kosma Konstantina⁴⁵,Dawkins Hugh⁶,Lamont Leanne⁶,Roy Anna J.⁷,Chamova Teodora⁸,Guergueltcheva Velina⁸,Chan Sophelia⁹,Korngut Lawrence¹⁰,Campbell Craig¹¹,Dai Yi¹²,Wang Jen¹³,Barišić Nina¹⁴,Brabec Petr¹⁵,Lahdetie Jaana¹⁶,Walter Maggie C.¹⁷,Schreiber-Katz Olivia¹⁷,Karcagi Veronika¹⁸,Garami Marta¹⁸,Viswanathan Venkatarman¹⁹,Bayat Farhad²⁰,Buccella Filippo²¹,Kimura En²²,Koeks Zaïda²³,van den Bergen Janneke C.²³,Rodrigues Miriam²⁴,Roxburgh Richard²⁴,Lusakowska Anna²⁵,Kostera-Pruszczyk Anna²⁵,Zimowski Janusz²⁶,Santos Rosário²⁷,Neagu Elena²⁸,Artemieva Svetlana²⁹,Rasic Vedrana Milic³⁰,Vojinovic Dina³⁰,Posada Manuel³¹,Bloetzer Clemens³²,Jeannet Pierre-Yves³²,Joncourt Franziska³³,Díaz-Manera Jordi³⁴,Gallardo Eduard³⁴,Karaduman A. Ayşe³⁵,Topaloğlu Haluk³⁶,El Sherif Rasha³⁷,Stringer Angela³⁸,Shatillo Andriy V.³⁹,Martin Ann S.⁴⁰,Peay Holly L.⁴⁰,Bellgard Matthew I.⁴¹,Kirschner Jan⁴²,Flanigan Kevin M.⁴³,Straub Volker¹,Bushby Kate¹,Verschuuren Jan²³,Aartsma-Rus Annemieke¹⁴⁴,Béroud Christophe²⁴⁵,Lochmüller Hanns¹

Affiliation:

1. The John Walton Muscular Dystrophy Research Centre; MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine; University of Newcastle, Central Parkway; Newcastle upon Tyne UK

2. Aix Marseille Université, Inserm; GMGF UMR_S 910 Marseille France

3. Hospital de Pediatría J. P. Garrahan; Pichincha Argentina

4. Department of Medical Genetics; Medical School; University of Athens; Athens Greece

5. Choremio Research Laboratory; St. Sophia's Children's Hospital Thinon and Levadia Goudi; Athens Greece

6. Department of Health; Office of Population Health Genomics; Perth Western Australia Australia

7. WIV-ISP; Juliette Wytsman 14 Brussels Belgium

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

9. Department of Paediatrics and Adolescent Medicine; Queen Mary Hospital; University of Hong Kong; Pok Fu Lam Hong Kong

10. Department of Clinical Neurosciences and Hotchkiss Brain Institute; University of Calgary; Calgary Canada

11. Department of Paediatrics; Clinical Neurological Sciences & Epidemiology; Western University; London Ontario Canada

12. Department of Neurology; Peking Union Medical College Hospital; Peking Union Medical College and Chinese Academy of Medical Sciences; Beijing P. R. China

13. Department of Neurology; China Dolls, the General Hospital of Chinese Armed Police Forces; Haidian; Beijing P. R. China

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

15. Institute for Biostatistic and Analyses; Masaryk University; Brno Czech Republic

16. Department of Child Neurology; Turku University Central Hospital; Turku Finland

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

18. Department of Molecular Genetics and Diagnostics; NIEH; Budapest Hungary

19. CHILDS Trust Medical Research Foundation and Apollo Children's Hospital; Chennai India

20. Pasteur Institute of Iran; Karaj complex Tehran Iran

21. Parent Project Onlus; Via Nicola Coviello n. 12 Roma Italy

22. 4-1-1 Ogawa-Higashi; Kodaira Tokyo Japan

23. Department of Neurology; Leiden University Medical Center; Leiden The Netherlands

24. Department of Neurology; Auckland DHB; Auckland New Zealand

25. Department of Neurology; Medical University of Warsaw; Warsaw Poland

26. Department of Genetics; Institute of Psychiatry and Neurology; Warsaw Poland

27. Centro de Genética Médica Jacinto Magalhães; Praça Pedro Nunes 88 Porto Portugal

28. National Institute of Legal Medicine; Genetics Laboratory 9; Vitan Barzesti Bucharest Romania

29. Moscow Institute of Pediatrics; Taldomskayastr Moscow Russia

30. Clinic for Neurology and Psychiatry for Children and Youth; Faculty of Medicine; University of Belgrade; Belgrade Serbia

31. Institute of Rare Diseases Research; Spain RDR and CIBERER; Institute of Health Carlos III; Madrid Spain

32. Neurorehabilitation Unit; Lausanne University Hospital; Lausanne Switzerland

33. Division of Human Genetics; Children's University Hospital; Inselspital Bern Switzerland

34. Unitat de MalaltiesNeuromusculars; Servei de Neurologia; Hospital de la Santa CreuiSant Pau de Barcelona; Barcelona Spain

35. Department of Physiotherapy and Rehabilitation, Faculty of Health Sciences, Hacettepe University; Ankara Turkey

36. Hacettepe Children's Hospital; Ankara Turkey

37. Neurology and Neurogenic Unit; Egypt Air Hospital; Ain Shams University; Egypt

38. Action Duchenne; Epicentre; London UK

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

40. Duchenne Connect; Hackensack New Jersey

41. Centre for Comparative Genomics; Murdoch University; Murdoch Western Australia

42. University Medical Center Freiburg; Freiburg Germany

43. Center for Gene Therapy; The Research Institute; Nationwide Children's Hospital; Columbus Ohio

44. Department of Human Genetics; Leiden University Medical Center; Leiden The Netherlands

45. Département de Génétique Médicale et de Biologie Cellulaire, INSERM APHM; Hôpital d'Enfants de la Timone; Marseille France

Funder

TREAT-NM

European Union Seventh Framework Programme

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference32 articles.

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

2. Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients;Aartsma-Rus;Hum Mol Genet,2003

3. Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense;Aartsma-Rus;Am J Hum Genet,2004

4. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule;Aartsma-Rus;Muscle Nerve,2006

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

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