Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
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| Title: | Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. |
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| Authors: | Salpietro V; Department of Molecular Neuroscience, Institute of Neurology, University College London Institute of Neurology, London, United Kingdom., Lin W; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX., Delle Vedove A; Institute of Human Genetics, Center for Molecular Medicine Cologne, Cologne, Germany.; Institute for Genetics, University of Cologne, Cologne, Germany., Storbeck M; Institute of Human Genetics, Center for Molecular Medicine Cologne, Cologne, Germany.; Institute for Genetics, University of Cologne, Cologne, Germany., Liu Y; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX., Efthymiou S; Department of Molecular Neuroscience, Institute of Neurology, University College London Institute of Neurology, London, United Kingdom., Manole A; Department of Molecular Neuroscience, Institute of Neurology, University College London Institute of Neurology, London, United Kingdom., Wiethoff S; Department of Molecular Neuroscience, Institute of Neurology, University College London Institute of Neurology, London, United Kingdom., Ye Q; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX., Saggar A; St George's Hospital, National Health Service Foundation Trust, London, United Kingdom., McElreavey K; Human Developmental Genetics, Pasteur Institute, Paris, France., Krishnakumar SS; Department of Cell Biology, Yale School of Medicine, New Haven, CT.; Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, London, United Kingdom., Pitt M; Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children, National Health Service Foundation Trust, London, United Kingdom., Bello OD; Department of Cell Biology, Yale School of Medicine, New Haven, CT.; Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, London, United Kingdom., Rothman JE; Department of Cell Biology, Yale School of Medicine, New Haven, CT.; Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, London, United Kingdom., Basel-Vanagaite L; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Hubshman MW; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Aharoni S; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Institute of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel., Manzur AY; Department of Pediatric Neurology, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom., Wirth B; Institute of Human Genetics, Center for Molecular Medicine Cologne, Cologne, Germany., Houlden H; Department of Molecular Neuroscience, Institute of Neurology, University College London Institute of Neurology, London, United Kingdom. |
| Corporate Authors: | SYNAPS Study Group |
| Source: | Annals of neurology [Ann Neurol] 2017 Apr; Vol. 81 (4), pp. 597-603. Date of Electronic Publication: 2017 Mar 29. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1531-8249 |
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| DOI: | 10.1002/ana.24905 |
