Homozygous mutations inVAMP1cause a presynaptic congenital myasthenic syndrome-Reference-Cited by-同舟云学术

Homozygous mutations inVAMP1cause a presynaptic congenital myasthenic syndrome

Published:2017-03-29 Issue:4 Volume:81 Page:597-603
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Salpietro Vincenzo¹,Lin Weichun²,Delle Vedove Andrea³⁴,Storbeck Markus³⁴,Liu Yun²,Efthymiou Stephanie¹,Manole Andreea¹,Wiethoff Sarah¹,Ye Qiaohong²,Saggar Anand⁵,McElreavey Kenneth⁶,Krishnakumar Shyam S.⁷⁸,Pitt Matthew⁹,Bello Oscar D.⁷⁸,Rothman James E.⁷⁸,Basel-Vanagaite Lina¹⁰¹¹¹²,Hubshman Monika Weisz¹⁰¹¹¹²,Aharoni Sharon¹²¹³,Manzur Adnan Y.¹⁴,Wirth Brunhilde³,Houlden Henry¹,

Affiliation:

1. Department of Molecular Neuroscience, Institute of Neurology; University College London Institute of Neurology; London United Kingdom

2. Department of Neuroscience; University of Texas Southwestern Medical Center; Dallas TX

3. Institute of Human Genetics, Center for Molecular Medicine Cologne; Cologne Germany

4. Institute for Genetics; University of Cologne; Cologne Germany

5. St George's Hospital, National Health Service Foundation Trust; London United Kingdom

6. Human Developmental Genetics, Pasteur Institute; Paris France

7. Department of Cell Biology; Yale School of Medicine; New Haven CT

8. Department of Clinical and Experimental Epilepsy; University College London Institute of Neurology; London United Kingdom

9. Department of Clinical Neurophysiology; Great Ormond Street Hospital for Children, National Health Service Foundation Trust; London United Kingdom

10. Pediatric Genetics Unit, Schneider Children's Medical Center of Israel; Petach Tikva Israel

11. Raphael Recanati Genetic Institute, Rabin Medical Center; Petach Tikva Israel

12. Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel

13. Institute of Child Neurology, Schneider Children's Medical Center of Israel; Petach Tikva Israel

14. Department of Pediatric Neurology; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children National Health Service Foundation Trust; London United Kingdom

Funder

Wellcome Trust

Medical Research Council

European Community's Seventh Framework Programme

National Institute for Health Research University College London Hospitals Biomedical Research Centre

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.24905/fullpdf

Reference23 articles.