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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.
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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  Data: Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Salpietro+V%22">Salpietro V</searchLink>; Department of Molecular Neuroscience, Institute of Neurology, University College London Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Lin+W%22">Lin W</searchLink>; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX.<br /><searchLink fieldCode="AU" term="%22Delle+Vedove+A%22">Delle Vedove A</searchLink>; Institute of Human Genetics, Center for Molecular Medicine Cologne, Cologne, Germany.; Institute for Genetics, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Storbeck+M%22">Storbeck M</searchLink>; Institute of Human Genetics, Center for Molecular Medicine Cologne, Cologne, Germany.; Institute for Genetics, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Liu+Y%22">Liu Y</searchLink>; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Molecular Neuroscience, Institute of Neurology, University College London Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Manole+A%22">Manole A</searchLink>; Department of Molecular Neuroscience, Institute of Neurology, University College London Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Wiethoff+S%22">Wiethoff S</searchLink>; Department of Molecular Neuroscience, Institute of Neurology, University College London Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ye+Q%22">Ye Q</searchLink>; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX.<br /><searchLink fieldCode="AU" term="%22Saggar+A%22">Saggar A</searchLink>; St George's Hospital, National Health Service Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22McElreavey+K%22">McElreavey K</searchLink>; Human Developmental Genetics, Pasteur Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Krishnakumar+SS%22">Krishnakumar SS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Pitt+M%22">Pitt M</searchLink>; Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children, National Health Service Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bello+OD%22">Bello OD</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rothman+JE%22">Rothman JE</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Basel-Vanagaite+L%22">Basel-Vanagaite L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Hubshman+MW%22">Hubshman MW</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Aharoni+S%22">Aharoni S</searchLink>; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Institute of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.<br /><searchLink fieldCode="AU" term="%22Manzur+AY%22">Manzur AY</searchLink>; Department of Pediatric Neurology, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Wirth+B%22">Wirth B</searchLink>; Institute of Human Genetics, Center for Molecular Medicine Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Molecular Neuroscience, Institute of Neurology, University College London Institute of Neurology, London, United Kingdom.
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