SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

Author:

Synofzik Matthis12,Smets Katrien345,Mallaret Martial67,Di Bella Daniela8,Gallenmüller Constanze91011,Baets Jonathan345,Schulze Martin12,Magri Stefania8,Sarto Elisa8,Mustafa Mona13,Deconinck Tine35,Haack Tobias1415,Züchner Stephan16,Gonzalez Michael16,Timmann Dagmar17,Stendel Claudia910,Klopstock Thomas91011,Durr Alexandra18,Tranchant Christine67,Sturm Marc12,Hamza Wahiba19,Nanetti Lorenzo8,Mariotti Caterina8,Koenig Michel720,Schöls Ludger12,Schüle Rebecca1216,de Jonghe Peter345,Anheim Mathieu6721,Taroni Franco8,Bauer Peter12

Affiliation:

1. Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany

2. German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany

3. Neurogenetics Group, Department of Molecular Genetics, University of Antwerp, VIB Belgium

4. Department of Neurology, Antwerp University Hospital, Belgium

5. Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium

6. Department of Neurology, Hôpital de Hautepierre, Strasbourg, France

7. Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Collège de France, 67404 Illkirch, France

8. Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

9. Department of Neurology with Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany

10. German Research Center for Neurodegenerative Diseases (DZNE), Munich, Germany

11. Munich Cluster for Systems Neurology (SyNergy), Munich, Germany

12. Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany

13. Department of Nuclear Medicine, Ludwig-Maximilians-University, Munich, Germany

14. Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany

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

16. Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA

17. Department of Neurology, University of Duisburg-Essen, Essen, Germany

18. APHP Genetic department and Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière (ICM), UPMC University Paris VI, UMR975; CNRS UMR 7225; INSERM U975; University Hospital Pitié-Salpêtrière, 75013 Paris, France

19. Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, USTHB, Algiers, Algeria

20. Laboratoire de Genetique de Maladies Rares, EA 7402, Institut Universitaire de Recherche Clinique, Université et CHU de Montpellier, 34093 Montpellier cedex 5, France

21. Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France

Funder

National Institute of Health (NIH)

Interdisciplinary Center for Clinical Research IZKF Tübingen

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Cited by 94 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3