Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement-Reference-Cited by-同舟云学术

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Published:2015-03-13 Issue:5 Volume:2 Page:492-509
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Haack Tobias B.¹²,Jackson Christopher B.³,Murayama Kei⁴,Kremer Laura S.¹²,Schaller André⁵,Kotzaeridou Urania⁶,de Vries Maaike C.⁷,Schottmann Gudrun⁸,Santra Saikat⁹,Büchner Boriana¹⁰,Wieland Thomas¹²,Graf Elisabeth¹²,Freisinger Peter¹¹,Eggimann Sandra³,Ohtake Akira¹²,Okazaki Yasushi¹³¹⁴,Kohda Masakazu¹³,Kishita Yoshihito¹⁴,Tokuzawa Yoshimi¹⁴,Sauer Sascha¹⁵,Memari Yasin¹⁶,Kolb-Kokocinski Anja¹⁶,Durbin Richard¹⁶,Hasselmann Oswald¹⁷,Cremer Kirsten¹⁸,Albrecht Beate¹⁹,Wieczorek Dagmar¹⁹,Engels Hartmut¹⁸,Hahn Dagmar³,Zink Alexander M.¹⁸,Alston Charlotte L.²⁰,Taylor Robert W.²⁰,Rodenburg Richard J.⁷,Trollmann Regina²¹,Sperl Wolfgang²²,Strom Tim M.¹²,Hoffmann Georg F.⁶,Mayr Johannes A.²²,Meitinger Thomas¹²²³²⁴,Bolognini Ramona⁵,Schuelke Markus⁸,Nuoffer Jean-Marc³,Kölker Stefan⁶,Prokisch Holger¹²,Klopstock Thomas¹⁰²³²⁴

Affiliation:

1. Institute of Human Genetics; Technische Universität München; 81675 Munich Germany

2. Institute of Human Genetics; Helmholtz Zentrum München; German Research Center for Environmental Health; 85764 Neuherberg Germany

3. Institute of Clinical Chemistry and University Children's Hospital; University of Bern; 3010 Bern Switzerland

4. Department of Metabolism; Chiba Children's Hospital; Chiba 266-0007 Japan

5. Division of Human Genetics; Department of Pediatrics; University of Bern; 3010 Bern Switzerland

6. Divisions of Inherited Metabolic Disease and Neuropediatrics; Department of General Pediatrics; University Hospital Heidelberg; D-69120 Heidelberg Germany

7. Department of Pediatrics; Nijmegen Center for Mitochondrial Disorders; Radboud University Center; 6525 GA Nijmegen The Netherlands

8. Department of Neuropediatrics and NeuroCure Clinical Research Center; Charité Universitätsmedizin Berlin; 13353 Berlin Germany

9. Department of Pediatrics; Birmingham Children's Hospital; Birmingham B4 6NH United Kingdom

10. Department of Neurology; Friedrich-Baur-Institute; Ludwig-Maximilians-University; 80336 Munich Germany

11. Department of Pediatrics; Klinikum Reutlingen; 72764 Reutlingen Germany

12. Department of Pediatrics; Faculty of Medicine; Saitama Medical University; Saitama 350-0495 Japan

13. Division of Translational Research; Research Center for Genomic Medicine; Saitama Medical University; Saitama 350-1241 Japan

14. Division of Functional Genomics & Systems Medicine; Research Center for Genomic Medicine; Saitama Medical University; Saitama 350-1241 Japan

15. Max-Planck-Institute for Molecular Genetics; Otto-Warburg Laboratory; 14195 Berlin Germany

16. Wellcome Trust Sanger Institute; Hinxton Cambridge CB10 1SA United Kingdom

17. Department of Neuropediatrics; Children's Hospital of Eastern Switzerland St.Gallen; 9006 St. Gallen Switzerland

18. Institute of Human Genetics; University of Bonn; 53127 Bonn Germany

19. Institut für Humangenetik; Universitätsklinikum Essen, Universität Duisburg-Essen; 45122 Essen Germany

20. Wellcome Trust Centre for Mitochondrial Research; Institute of Neuroscience; The Medical School; Newcastle University; Newcastle upon Tyne NE2 4HH United Kingdom

21. Department of Pediatrics; Friedrich-Alexander-University of Erlangen-Nürnberg; 91054 Erlangen Germany

22. Department of Pediatrics; Paracelsus Medical University Salzburg; 5020 Salzburg Austria

23. Munich Cluster for Systems Neurology (SyNergy); 80336 Munich Germany

24. DZNE - German Center for Neurodegenerative Diseases; 80336 Munich Germany

Funder

European Commission

German Bundesministerium für Bildung und Forschung

FWF

German Network for Mitochondrial Disorders

German Mental Retardation Network

Deutsche Forschungsgemeinschaft

Wellcome Trust Strategic Award