TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis-Reference-Cited by-同舟云学术

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Published:2017-01-19 Issue:3 Volume:38 Page:297-309
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

van der Zee Julie¹²,Gijselinck Ilse¹²,Van Mossevelde Sara¹²³,Perrone Federica¹²,Dillen Lubina¹²,Heeman Bavo¹²,Bäumer Veerle¹²,Engelborghs Sebastiaan²⁴,De Bleecker Jan⁵,Baets Jonathan¹²³,Gelpi Ellen⁶,Rojas-García Ricardo⁷,Clarimón Jordi⁷⁸,Lleó Alberto⁷⁸,Diehl-Schmid Janine⁹,Alexopoulos Panagiotis⁹,Perneczky Robert⁹¹⁰¹¹,Synofzik Matthis¹²¹³,Just Jennifer¹²¹³,Schöls Ludger¹²¹³,Graff Caroline¹⁴¹⁵,Thonberg Håkan¹⁴¹⁵,Borroni Barbara¹⁶,Padovani Alessandro¹⁶,Jordanova Albena¹²¹⁷,Sarafov Stayko¹⁸,Tournev Ivailo¹⁹,de Mendonça Alexandre²⁰²¹,Miltenberger-Miltényi Gabriel²⁰²¹,Simões do Couto Frederico²⁰²¹,Ramirez Alfredo²²²³²⁴,Jessen Frank²²²⁴²⁵,Heneka Michael T.²⁵²⁶,Gómez-Tortosa Estrella²⁷,Danek Adrian²⁸²⁹,Cras Patrick²³,Vandenberghe Rik³⁰³¹,De Jonghe Peter¹²³,De Deyn Peter P.²⁴,Sleegers Kristel¹²,Cruts Marc¹²,Van Broeckhoven Christine¹²,Goeman Johan¹³²,Nuytten Dirk¹³²,Smets Katrien¹³³,Robberecht Wim¹³⁴,Damme Philip Van¹³⁴,Bleecker Jan De¹³⁵,Santens Patrick¹³⁵,Dermaut Bart¹³⁵,Versijpt Jan¹³⁶,Michotte Alex¹³⁶,Ivanoiu Adrian¹³⁷,Deryck Olivier¹³⁸,Bergmans Bruno¹³⁸,Delbeck Jean¹³⁹,Bruyland Marc¹⁴⁰,Willems Christiana¹⁴¹,Salmon Eric¹⁴²,Pastor Pau¹⁴³⁴⁴,Ortega-Cubero Sara¹⁴⁴⁴⁵,Benussi Luisa¹⁴⁶,Ghidoni Roberta¹⁴⁶,Binetti Giuliano¹⁴⁷,Hernández Isabel¹⁴⁸,Boada Mercè¹⁴⁸,Ruiz Agustín¹⁴⁸,Sorbi Sandro¹⁴⁹,Nacmias Benedetta¹⁴⁹,Bagnoli Silvia¹⁴⁹,Sorbi Sandro¹⁵⁰,Sanchez-Valle Raquel¹⁵¹,Llado Albert¹⁵¹,Santana Isabel¹⁵²,Rosário Almeida Maria¹⁵²,Frisoni Giovanni B¹⁵³,Maetzler Walter¹⁵⁴,Matej Radoslav¹⁵⁵,Fraidakis Matthew J.¹⁵⁶,Kovacs Gabor G.¹⁵⁷,Fabrizi Gian Maria¹⁵⁸,Testi Silvia¹⁵⁸

Affiliation:

1. Center for Molecular Neurology; VIB; Antwerp Belgium

2. Institute Born-Bunge; University of Antwerp; Antwerp Belgium

3. Department of Neurology; Antwerp University Hospital; Edegem Belgium

4. Department of Neurology and Memory Clinic; Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken; Antwerp Belgium

5. Department of Neurology; University Hospital Ghent and University of Ghent; Ghent Belgium

6. Neurological Tissue Bank of the Biobanc - Hospital Clinic-Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS); Barcelona Spain

7. Department of Neurology; IIB Sant Pau; Hospital de la Santa Creu i Sant Pau; Universitat Autònoma de Barcelona; Barcelona Spain

8. Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED); Madrid Spain

9. Department of Psychiatry and Psychotherapy; Technische Universität München; München Germany

10. Neuroepidemiology and Ageing Research Unit; School of Public Health; The Imperial College of Science, Technology and Medicine; London UK

11. West London Cognitive Disorders Treatment and Research Unit; West London Mental Health Trust; London TW8 8DS UK

12. Department of Neurodegeneration; Hertie Institute for Clinical Brain Research and Centre of Neurology; Tübingen Germany

13. German Research Center for Neurodegenerative Diseases (DZNE); Tübingen Germany

14. Department of Neurobiology; Care Sciences and Society (NVS); KI-Alzheimer Disease Research Center; Karolinska Institutet; Stockholm Sweden

15. Department of Geriatric Medicine; Genetics unit; Karolinska University Hospital; Stockholm Sweden

16. Neurology Unit; University of Brescia; Brescia Italy

17. Department of Biochemistry; Molecular Medicine Center; Medical University-Sofia; Sofia Bulgaria

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

19. Department of Cognitive Science and Psychology; New Bulgarian University; Sofia Bulgaria

20. Hospital Santa Maria; Lisbon Portugal

21. Faculty of Medicine and Institute of Molecular Medicine; University of Lisbon; Lisbon Portugal

22. Department of Psychiatry and Psychotherapy; University of Bonn; Bonn Germany

23. Institute of Human Genetics; University of Bonn; Bonn Germany

24. Department of Psychiatry and Psychotherapy; University of Cologne; Cologne Germany

25. German Center for Neurodegenerative Diseases (DZNE); Bonn Germany

26. Clinical Neuroscience Unit; Department of Neurology; University of Bonn; Bonn Germany

27. Department of Neurology; Fundación Jiménez Díaz; Madrid Spain

28. Department of Neurology; Ludwig-Maximilians-Universität München; Munich Germany

29. German Center for Neurodegenerative Diseases (DZNE); Munich Germany

30. Department of Neurosciences; Faculty of Medicine; KU Leuven; Leuven Belgium

31. Department of Neurology; University Hospitals Leuven; Leuven Belgium

32. Hospital Network Antwerp, Antwerp

33. Antwerp University Hospital, Edegem

34. University Hospitals Leuven Gasthuisberg, Leuven

35. University Hospital Ghent, Ghent

36. University Hospital Brussels, Brussels

37. Saint-Luc University Hospital, Brussels

38. General Hospital Sint-Jan Brugge, Bruges

39. General Hospital Sint-Maria, Halle

40. General Hospital Glorieux Ronse

41. Jessa Hospital, Hasselt

42. University of Liège and Memory Clinic, CHU Liège, Liège

43. University Hospital Mútua de Terrassa and Fundació Docència i Recerca Mútua Terrassa, University of Barcelona School of Medicine, Terrassa, Barcelona, Spain

44. CIBERNED Instituto de Salud Carlos III, Madrid, Spain

45. Deparment of Neurology, Complejo Asistencial Universitario de Palencia, Palencia, Spain

46. Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy

47. MAC Memory Center and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy

48. Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain

49. Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy

50. IRCCS Don Carlo Gnocchi Scandicci, Florence, Italy

51. Hospital Clínic, IDIBAPS, Barcelona, Spain

52. University of Coimbra, Coimbra, Portugal

53. Hôpitaux Universitaires de Genève et Université de Genève, Genève, Switzerland and IRCCS Fatebenefratelli, Brescia, Italy

54. Hertie Institute for Clinical Brain Research, Tübingen, Germany

55. Thomayer Hospital, Prague and Charles University, Prague, Czech Republic