A Pan‐European Study of theC9orf72Repeat Associated withFTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats-Reference-Cited by-同舟云学术

A Pan‐European Study of theC9orf72Repeat Associated withFTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

Published:2013-01-04 Issue:2 Volume:34 Page:363-373
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

van der Zee Julie¹²,Gijselinck Ilse¹²,Dillen Lubina¹²,Van Langenhove Tim¹²,Theuns Jessie¹²,Engelborghs Sebastiaan²³,Philtjens Stéphanie¹²,Vandenbulcke Mathieu⁴,Sleegers Kristel¹²,Sieben Anne¹²⁵,Bäumer Veerle¹²,Maes Githa¹²,Corsmit Ellen¹²,Borroni Barbara⁶,Padovani Alessandro⁶,Archetti Silvana⁶,Perneczky Robert⁷,Diehl‐Schmid Janine⁷,de Mendonça Alexandre⁸,Miltenberger‐Miltenyi Gabriel⁸,Pereira Sónia⁸,Pimentel José⁹,Nacmias Benedetta¹⁰,Bagnoli Silvia¹⁰,Sorbi Sandro¹⁰,Graff Caroline¹¹¹²,Chiang Huei‐Hsin¹¹,Westerlund Marie¹¹,Sanchez‐Valle Raquel¹³,Llado Albert¹³,Gelpi Ellen¹⁴,Santana Isabel¹⁵¹⁶,Almeida Maria Rosário¹⁷,Santiago Beatriz¹⁵,Frisoni Giovanni¹⁸,Zanetti Orazio¹⁸,Bonvicini Cristian¹⁸,Synofzik Matthis¹⁹²⁰,Maetzler Walter¹⁹²⁰,vom Hagen Jennifer Müller¹⁹²⁰,Schöls Ludger¹⁹²⁰,Heneka Michael T.²¹²²,Jessen Frank²¹²²²³,Matej Radoslav²⁴,Parobkova Eva²⁴,Kovacs Gabor G.²⁵,Ströbel Thomas²⁵,Sarafov Stayko²⁶,Tournev Ivailo²⁶²⁷,Jordanova Albena¹²⁸,Danek Adrian²⁹,Arzberger Thomas³⁰,Fabrizi Gian Maria³¹,Testi Silvia³¹,Salmon Eric³²,Santens Patrick⁵,Martin Jean‐Jacques²,Cras Patrick²³³,Vandenberghe Rik³⁴,De Deyn Peter Paul²³,Cruts Marc¹²,Van Broeckhoven Christine¹²,van der Zee Julie,Gijselinck Ilse,Dillen Lubina,Van Langenhove Tim,Theuns Jessie,Philtjens Stéphanie,Sleegers Kristel,Bäumer Veerle,Maes Githa,Corsmit Ellen,Cruts Marc,Van Broeckhoven Christine,van der Zee Julie,Gijselinck Ilse,Dillen Lubina,Van Langenhove Tim,Philtjens Stéphanie,Theuns Jessie,Sleegers Kristel,Bäumer Veerle,Maes Githa,Cruts Marc,Van Broeckhoven Christine,Engelborghs Sebastiaan,De Deyn Peter P.,Cras Patrick,Engelborghs Sebastiaan,De Deyn Peter P.,Vandenbulcke Mathieu,Vandenbulcke Mathieu,Borroni Barbara,Padovani Alessandro,Archetti Silvana,Perneczky Robert,Diehl‐Schmid Janine,Synofzik Matthis,Maetzler Walter,Müller vom Hagen Jennifer,Schöls Ludger,Synofzik Matthis,Maetzler Walter,Müller vom Hagen Jennifer,Schöls Ludger,Heneka Michael T.,Jessen Frank,Ramirez Alfredo,Kurzwelly Delia,Sachtleben Carmen,Mairer Wolfgang,de Mendonça Alexandre,Miltenberger‐Miltenyi Gabriel,Pereira Sónia,Firmo Clara,Pimentel José,Sanchez‐Valle Raquel,Llado Albert,Antonell Anna,Molinuevo Jose,Gelpi Ellen,Graff Caroline,Chiang Huei‐Hsin,Westerlund Marie,Graff Caroline,Kinhult Ståhlbom Anne,Thonberg Håkan,Nennesmo Inger,Börjesson‐Hanson Anne,Nacmias Benedetta,Bagnoli Silvia,Sorbi Sandro,Bessi Valentina,Piaceri Irene,Santana Isabel,Santiago Beatriz,Santana Isabel,Helena Ribeiro Maria,Rosário Almeida Maria,Oliveira Catarina,Massano João,Garret Carolina,Pires Paula,Frisoni Giovanni,Zanetti Orazio,Bonvicini Cristian,Sarafov Stayko,Tournev Ivailo,Jordanova Albena,Tournev Ivailo,Kovacs Gabor G.,Ströbel Thomas,Heneka Michael T.,Jessen Frank,Ramirez Alfredo,Kurzwelly Delia,Sachtleben Carmen,Mairer; Wolfgang,Jessen Frank,Matej Radoslav,Parobkova Eva,Danel Adrian,Arzberger Thomas,Maria Fabrizi Gian,Testi Silvia,Ferrari Sergio,Cavallaro Tiziana,Salmon Eric,Santens Patrick,Cras Patrick,

Affiliation:

1. Department of Molecular Genetics VIB Antwerp Belgium

2. Institute Born‐Bunge University of Antwerp Antwerp Belgium

3. Department of Neurology and Memory Clinic Hospital Network Antwerp Middelheim and Hoge Beuken Antwerp Belgium

4. Brain and Emotion Laboratory Leuven, Department of Psychiatry University of Leuven and University Hospitals Leuven Gasthuisberg Leuven Belgium

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

6. Centre for Ageing Brain and Neurodegenerative Disorders Neurology Unit University of Brescia Brescia Italy

7. Department of Psychiatry and Psychotherapy Technische Universität München Munich Germany

8. Institute of Molecular Medicine Faculty of Medicine, University of Lisbon Lisbon Portugal

9. Faculty of Medicine University of Lisbon Lisbon Portugal

10. Department of Neurological and Psychiatric Sciences University of Florence Florence Italy

11. Department of Neurobiology Care Sciences and Society KI‐Alzheimer Disease Research Center Karolinska Institutet Stockholm Sweden

12. Department of Geriatric Medicine Genetics unit, Karolinska University Hospital Stockholm Sweden

13. Alzheimer's disease and Other cognitive disorders unit Department of Neurology Hospital Clinic Barcelona Spain

14. Biobanc, Hospital Clinic Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) Barcelona Spain

15. Neurology Department Centro Hospitalar Universitário de Coimbra Coimbra Portugal

16. Faculty of Medicine University of Coimbra Coimbra Portugal

17. Center for Neuroscience and Cell Biology University of Coimbra Coimbra Portugal

18. Laboratory of Epidemiology Neuroimaging & Telemedicine & National Centre for Alzheimer's and Mental Diseases IRCCS Centro San Giovanni di Dio, FBF Brescia Italy

19. Department of Neurodegeneration Hertie Institute for Clinical Brain Research and Centre of Neurology Tuebingen Germany

20. German Research Center for Neurodegenerative Diseases (DZNE) University of Tuebingen Tuebingen Germany

21. Clinical Neuroscience Unit Department of Neurology University of Bonn Bonn Germany

22. German Center for Neurodegenerative Diseases (DZNE) University of Bonn Bonn Germany

23. Department of Psychiatry University of Bonn Bonn Germany

24. Department of Pathology and Molecular Medicine Thomayer Hospital Prague Czech Republic

25. Institute of Neurology Medical University Vienna Vienna Austria

26. Department of Neurology Medical University Sofia Sofia Bulgaria

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

28. Department of Biochemistry Molecular Medicine Center Medical University Sofia Bulgaria

29. Neurologische Klinik Ludwig Maximilians Universität Munich Germany

30. Zentrum für Neuropathologie und Prionforschung Ludwig‐Maximilians‐Universität Munich Munich Germany

31. Section of Neuropathology Department of Neurological Neuropsychological Morphological and Movement Sciences University of Verona Verona Italy

32. Cyclotron Research Centre and Department of Neurology University of Liège Liège Belgium

33. Department of Neurology Antwerp University Hospital Edegem Belgium

34. Laboratory for Cognitive Neurology Department of Neurology University of Leuven and University Hospitals Leuven Gasthuisberg Leuven Belgium

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22244

Reference47 articles.

1. p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

2. Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations;Arighi A;J Alzheimers Dis,2012

3. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease

4. The C9orf72 hexanucleotide repeat expansion in FTD and ALS

5. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

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