Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Author:

Wang Haicui12,Salter Claire G34,Refai Osama5,Hardy Holly3,Barwick Katy E S3,Akpulat Ugur126,Kvarnung Malin78,Chioza Barry A3,Harlalka Gaurav3,Taylan Fulya79,Sejersen Thomas910,Wright Jane11,Zimmerman Holly H12,Karakaya Mert2,Stüve Burkhardt13,Weis Joachim14,Schara Ulrike15,Russell Mark A3,Abdul-Rahman Omar A16,Chilton John3,Blakely Randy D5,Baple Emma L3,Cirak Sebahattin12,Crosby Andrew H3

Affiliation:

1. University Hospital Cologne, Department of Pediatrics, Kerpener Str. 62, 50937 Cologne, Germany

2. Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany

3. RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK

4. Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK

5. Department of Biomedical Science, Charles E. Schmidt College of Medicine and Brain Institute, Florida Atlantic University, Jupiter, FL, USA

6. Kastamonu University, 37150 Kastamonu, Turkey

7. Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden

8. Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden

9. Science for Life Laboratory, Karolinska Institutet Science Park, 17121 Stockholm, Sweden

10. Department of Women’s and Children’s Health, Division of Pediatric Neurology, Karolinska Institutet, 17176 Stockholm, Sweden

11. Department of Pharmacology, Vanderbilt University, Nashville, TN, USA

12. Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA

13. Children's Hospital Social Pediatric Center, 50735 Cologne, Germany

14. Institute of Neuropathology and Jülich Aachen Research Alliance (JARA) Brain Translational Medicine, RWTH Aachen University, 52074 Aachen, Germany

15. University Children’s Hospital Essen, Essen, Germany

16. Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA

Funder

National Institutes of Health

Medical Research Council

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Reference32 articles.

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